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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Select column to sort.

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Results per page.

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
ATP2A3_chr17_3918873_3969437	3966363	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03540.hp2 HG06807.hp1 HG02630.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0154 a0001c0003t0001g0042 a0001c0001t0001g0008 a0001c0001t0001g0154 a0001c0003t0001g0042	3	332	0.0090	-22	c.-20 others(33): Show c.-2094_-2073delAAAAAAAAAAAAAAAAAAAAAA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding		1927		chr17	TogoVar
ATP2B4_chr1_203621832_203749081	203674637	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0042 a0001c0003t0058g0042	1	318	0.0031	-22	c.-46 others(41): Show c.-464-8091_-464-8070delTTTTTTTTTTTTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130902284	GTTTTTTT others(15): Show GTTTTTTTTTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG06807.hp2 HG02970.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197	3	382	0.0079	-22	c.6+7 others(35): Show c.6+7522_6+7543delGTTTTTTTTTTTTTTTTTTTTT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP5MC2_chr12_53660170_53681083	53667950	CACACACA others(15): Show CACACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	418	0.0024	-22	c.311 others(39): Show c.311+1176_311+1197delATATATATATATATATGTGTGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784231	TATACGTA others(15): Show TATACGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03098.hp1 HG02109.hp2 HG02145.hp2 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0002 a0001c0013t0001 a0001c0010t0002 a0001c0013t0001	a0001c0010t0002g0035 a0001c0010t0002g0362 a0001c0013t0001g0206 a0001c0010t0002g0035 a0001c0010t0002g0362 a0001c0013t0001g0206	3	376	0.0080	-22	c.-18 others(39): Show c.-18+1905_-18+1926delGTATATATATATATATACGTAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01346.hp1 HG01993.hp1 others(21): Show HG00438.hp1 HG01346.hp1 HG01993.hp1 HG02015.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02976.hp1 HG03239.hp1 HG03942.hp2 HG04204.hp2 NA18940.hp2 NA18951.hp2 NA18959.hp2 NA18994.hp2 NA18995.hp2 NA19005.hp1 NA19062.hp2 NA19068.hp2 NA19082.hp1 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0009 a0001c0001 a0001c0004 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0005c0009t0001	a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0064 others(21): Show a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0126 a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0001g0277 a0001c0001t0001g0345 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0270 a0001c0001t0003g0273 a0001c0004t0001g0141 a0005c0009t0001g0200	24	360	0.0667	-22	c.639 others(39): Show c.639+2283_639+2304delGAGAGAGAGAGAGAGAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	GAGATATA others(15): Show GAGATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp1 HG03139.hp1 HG03516.hp1	a0002 a0002	a0002c0006 a0002c0011 a0002c0006 a0002c0011	a0002c0006t0001 a0002c0011t0002 a0002c0006t0001 a0002c0011t0002	a0002c0006t0001g0272 a0002c0011t0002g0392 a0002c0006t0001g0272 a0002c0011t0002g0392	2	440	0.0046	-22	c.174 others(39): Show c.174+1988_174+2009delGATATATATATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631698	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03453.hp1 HG02622.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0042 a0001c0002t0006g0044 a0001c0002t0006g0042 a0001c0002t0006g0044	2	370	0.0054	-22	c.-30 others(33): Show c.-3085_-3064delAAAAAAAAAAAAAATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2950		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631700	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA18974.hp2 HG03139.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0006 a0001c0001t0004 a0001c0002t0006	a0001c0001t0004g0194 a0001c0002t0006g0043 a0001c0001t0004g0194 a0001c0002t0006g0043	2	370	0.0054	-22	c.-30 others(33): Show c.-3087_-3066delAAAAAAAAAAAAAAAATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2952		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	410	0.0024	-22	c.-10 others(41): Show c.-101-5968_-101-5947delCACACACACACACACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546511	TGTATATA others(15): Show TGTATATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG02897.hp1 others(1): Show HG01884.hp1 HG02630.hp2 HG02897.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0179 a0001c0001t0003g0183 others(1): Show a0001c0001t0003g0098 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0185	4	410	0.0098	-22	c.-46 others(33): Show c.-4690_-4669delGTATATATATATATGTATATAC	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3935		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp2 HG02630.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0258 a0001c0001t0003g0002 a0001c0001t0002g0258 a0001c0001t0003g0002	2	286	0.0070	-22	c.127 others(39): Show c.1277+848_1277+869delATATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	286	0.0035	-22	c.307 others(39): Show c.307-2039_307-2018delATATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP8A1_chr4_42403373_42662105	42635776	CACACACA others(15): Show CACACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03225.hp1 HG02922.hp2 HG02970.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183	3	310	0.0097	-22	c.50- others(37): Show c.50-8689_50-8668delATATATATATATATATGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG02015.hp2 others(1): Show HG01175.hp1 HG01358.hp2 HG02015.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0051 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0079 a0001c0001t0051g0053 a0001c0002t0001g0032 others(1): Show a0001c0001t0002g0079 a0001c0001t0051g0053 a0001c0002t0001g0032 a0001c0002t0002g0037	4	122	0.0328	-22	c.275 others(41): Show c.2754+1508_2754+1529delATATATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57672886	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0280 a0001c0001t0007g0280	1	314	0.0032	-22	c.182 others(41): Show c.1820-1328_1820-1307delTATATATATATATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680683	TCTCACCC others(15): Show TCTCACCCCCTTTAAATGATTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0012	a0001c0001 a0001c0005 a0001c0012 others(4): Show a0001c0001 a0001c0005 a0001c0012 a0004c0008 a0005c0007 a0008c0013 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0005t0016 a0001c0012t0035 a0004c0008t0004 a0005c0007t0030 a0008c0013t0017 a0012c0020t0012	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 others(151): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0303 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0087 a0001c0001t0004g0105 a0001c0001t0004g0113 a0001c0001t0004g0122 a0001c0001t0004g0138 a0001c0001t0005g0011 a0001c0001t0005g0017 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0036 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0072 a0001c0001t0005g0085 a0001c0001t0005g0118 a0001c0001t0005g0127 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0106 a0001c0001t0007g0226 a0001c0001t0009g0199 a0001c0001t0009g0205 a0001c0001t0009g0215 a0001c0001t0009g0225 a0001c0001t0009g0230 a0001c0001t0009g0232 a0001c0001t0009g0235 a0001c0001t0009g0243 a0001c0001t0009g0246 a0001c0001t0009g0249 a0001c0001t0009g0253 a0001c0001t0009g0259 a0001c0001t0009g0262 a0001c0001t0009g0286 a0001c0001t0009g0288 a0001c0001t0010g0186 a0001c0001t0010g0188 a0001c0001t0011g0145 a0001c0001t0011g0147 a0001c0001t0011g0154 a0001c0001t0011g0161 a0001c0001t0011g0174 a0001c0001t0011g0181 a0001c0001t0011g0184 a0001c0001t0011g0191 a0001c0001t0012g0160 a0001c0001t0012g0178 a0001c0001t0012g0180 a0001c0001t0012g0183 a0001c0001t0012g0189 a0001c0001t0013g0216 a0001c0001t0013g0223 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0015g0163 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0016g0021 a0001c0001t0016g0027 a0001c0001t0016g0040 a0001c0001t0017g0217 a0001c0001t0017g0222 a0001c0001t0017g0248 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0021g0001 a0001c0001t0021g0002 a0001c0001t0025g0313 a0001c0001t0026g0311 a0001c0001t0026g0314 a0001c0001t0029g0092 a0001c0001t0036g0179 a0001c0001t0038g0190 a0001c0001t0043g0299 a0001c0001t0044g0197 a0001c0001t0048g0312 a0001c0001t0050g0305 a0001c0005t0016g0056 a0001c0012t0035g0008 a0004c0008t0004g0004 a0005c0007t0030g0007 a0008c0013t0017g0260 a0012c0020t0012g0173	154	314	0.4905	-22	c.163 others(41): Show c.1630+3331_1630+3352delCAAATCATTTAAAGGGGGTGAG	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57717547	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0079 a0001c0001t0008g0079	1	314	0.0032	-22	c.182 others(41): Show c.182-10982_182-10961delTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57731308	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG00642.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0113 a0001c0001t0011g0159 a0001c0001t0004g0113 a0001c0001t0011g0159	2	314	0.0064	-22	c.181 others(37): Show c.181+297_181+318delATATATATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57761097	AAAAATAA others(15): Show AAAAATAAAATAAAATATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	314	0.0032	-22	c.-25 others(41): Show c.-25-29287_-25-29266delATTTTATATTTTATTTTATTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57784654	ATGCAGGA others(15): Show ATGCAGGAGAGTATTATGAAACG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03130.hp1 others(3): Show HG01891.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03704.hp2 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0008 others(1): Show a0001c0001 a0003c0003 a0004c0008 a0006c0009	a0001c0001t0001 a0001c0001t0041 a0003c0003t0022 others(2): Show a0001c0001t0001 a0001c0001t0041 a0003c0003t0022 a0004c0008t0004 a0006c0009t0033	a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0001t0041g0192 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0121 a0001c0001t0041g0192 a0003c0003t0022g0135 a0004c0008t0004g0004 a0006c0009t0033g0080	6	314	0.0191	-22	c.-26 others(41): Show c.-26+18322_-26+18343delCGTTTCATAATACTCTCCTGCA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1795784	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02717.hp1 others(6): Show HG02145.hp2 HG02486.hp1 HG02717.hp1 HG02886.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 NA18522.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0065 a0001c0006 a0002c0003 others(2): Show a0000c0065 a0001c0006 a0002c0003 a0002c0007 a0002c0009	a0000c0065t0007 a0001c0006t0004 a0001c0006t0005 others(3): Show a0000c0065t0007 a0001c0006t0004 a0001c0006t0005 a0002c0003t0005 a0002c0007t0004 a0002c0009t0006	a0000c0065t0007g0136 a0001c0006t0004g0377 a0001c0006t0005g0373 others(6): Show a0000c0065t0007g0136 a0001c0006t0004g0377 a0001c0006t0005g0373 a0002c0003t0005g0275 a0002c0003t0005g0276 a0002c0003t0005g0281 a0002c0007t0004g0278 a0002c0007t0004g0279 a0002c0009t0006g0280	9	390	0.0231	-22	c.205 others(37): Show c.2055+69_2055+90delGTGTGTGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50072921	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02145.hp2 HG02074.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0088 a0001c0001t0002g0055 a0001c0001t0001g0088 a0001c0001t0002g0055	2	254	0.0079	-22	c.87+ others(37): Show c.87+1184_87+1205delAGAGAGAGAGAGAGAGAGAGAG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072960	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0140 a0003c0003t0003g0141	2	254	0.0079	-22	c.87+ others(37): Show c.87+1145_87+1166delTAGAGAGAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073009	TATATATA others(15): Show TATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	254	0.0039	-22	c.87+ others(37): Show c.87+1096_87+1117delGTGTGTGTGTGTATATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073011	TATATATA others(15): Show TATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0024 a0009c0009t0001 a0009c0009t0024	a0009c0009t0001g0187 a0009c0009t0024g0186 a0009c0009t0001g0187 a0009c0009t0024g0186	2	254	0.0079	-22	c.87+ others(37): Show c.87+1094_87+1115delGTGTGTGTGTGTGTATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073013	TATATATA others(15): Show TATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	254	0.0039	-22	c.87+ others(37): Show c.87+1092_87+1113delGTGTGTGTGTGTGTGTATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(15): Show TTTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01257.hp1 HG02683.hp2 others(5): Show HG00408.hp1 HG01257.hp1 HG02683.hp2 HG03490.hp1 HG03688.hp1 NA18952.hp1 NA18969.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0035 a0001c0001t0044	a0001c0001t0001g0094 a0001c0001t0001g0238 a0001c0001t0001g0252 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0002g0305 a0001c0001t0011g0139 a0001c0001t0018g0239 a0001c0001t0035g0194 a0001c0001t0044g0251	8	312	0.0256	-22	c.166 others(41): Show c.1668+1252_1668+1273delTATATATATATATATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0107 a0001c0003t0032g0107	1	312	0.0032	-22	c.166 others(41): Show c.1668+1250_1668+1271delTATATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51642726	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp1 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0020 a0001c0019 a0001c0020	a0001c0019t0010 a0001c0020t0009 a0001c0019t0010 a0001c0020t0009	a0001c0019t0010g0129 a0001c0020t0009g0127 a0001c0019t0010g0129 a0001c0020t0009g0127	2	312	0.0064	-22	c.150 others(41): Show c.1507-3244_1507-3223delTTTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51772045	GTAGAGAA others(15): Show GTAGAGAAGAGGTTTCACCATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0044 a0001c0002t0032g0044	1	312	0.0032	-22	c.-36 others(33): Show c.-3698_-3677delACATGGTGAAACCTCTTCTCTA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding		3656		chr20	TogoVar
ATP9B_chr18_79064394_79383283	79297359	GAGACACA others(15): Show GAGACACAGACGACCCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0179 a0002c0005t0001g0179	1	298	0.0034	-22	c.141 others(41): Show c.1412-6239_1412-6218delCAGACGACCCAGAGAGAAGACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79372175	CTCCCCTG others(15): Show CTCCCCTGCCTCCTGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(162): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0007 a0009 a0011 a0012 a0014 a0015 a0016 a0017	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0017 a0001c0024 a0001c0037 a0002c0002 a0002c0005 a0002c0033 a0003c0007 a0003c0020 a0006c0012 a0007c0031 a0009c0034 a0011c0035 a0012c0018 a0014c0022 a0015c0027 a0016c0028 a0017c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0010t0004 a0001c0013t0004 a0001c0015t0001 a0001c0017t0004 a0001c0024t0004 a0001c0037t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0002 a0002c0033t0002 a0003c0007t0004 a0003c0020t0004 a0006c0012t0003 a0007c0031t0002 a0009c0034t0002 a0011c0035t0002 a0012c0018t0002 a0014c0022t0004 a0015c0027t0003 a0016c0028t0012 a0017c0019t0002	a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0088 others(162): Show a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0002g0079 a0001c0001t0003g0072 a0001c0003t0002g0135 a0001c0003t0002g0149 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 a0001c0004t0001g0154 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0002g0109 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0015t0001g0132 a0001c0017t0004g0099 a0001c0024t0004g0058 a0001c0037t0003g0104 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0033t0002g0214 a0003c0007t0004g0278 a0003c0020t0004g0289 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0007c0031t0002g0251 a0009c0034t0002g0186 a0011c0035t0002g0201 a0012c0018t0002g0114 a0014c0022t0004g0276 a0015c0027t0003g0139 a0016c0028t0012g0144 a0017c0019t0002g0076	165	298	0.5537	-22	c.301 others(39): Show c.3013-581_3013-560delCCCTGCCTCCTGCCCCCTCGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115230870	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0071 a0001c0012t0001g0071	1	128	0.0078	-22	c.153 others(43): Show c.1533-10670_1533-10649delGAGAGAGAGAGAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389540	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0044 a0002c0008t0044	a0002c0008t0044g0063 a0002c0008t0044g0063	1	128	0.0078	-22	c.317 others(41): Show c.3176-5089_3176-5068delATATATATATATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115630827	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0119 a0001c0001t0011g0119	1	128	0.0078	-22	c.379 others(43): Show c.3795+81317_3795+81338delCACACACACACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115837466	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	128	0.0078	-22	c.390 others(43): Show c.3904-10371_3904-10350delACACACACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(14): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01169.hp1 HG01517.hp2 HG02015.hp1 HG02258.hp1 HG02602.hp1 HG02698.hp1 HG04228.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0008 others(1): Show a0001c0001 a0001c0003 a0003c0008 a0006c0010	a0001c0001t0005 a0001c0001t0013 a0001c0003t0005 others(3): Show a0001c0001t0005 a0001c0001t0013 a0001c0003t0005 a0003c0008t0005 a0006c0010t0005 a0006c0010t0018	a0001c0001t0005g0015 a0001c0001t0005g0036 a0001c0001t0005g0061 others(14): Show a0001c0001t0005g0015 a0001c0001t0005g0036 a0001c0001t0005g0061 a0001c0001t0005g0064 a0001c0001t0005g0080 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0138 a0001c0001t0005g0175 a0001c0001t0013g0107 a0001c0003t0005g0178 a0001c0003t0005g0190 a0003c0008t0005g0197 a0003c0008t0005g0198 a0006c0010t0005g0127 a0006c0010t0018g0126 a0006c0010t0018g0128	17	220	0.0773	-22	c.386 others(41): Show c.3864-3368_3864-3347delTTTTTTTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77556295	AAGAGGGA others(15): Show AAGAGGGAGAGAGGGGAAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG03471.hp1 HG02895.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0070	3	218	0.0138	-22	c.669 others(41): Show c.6699+1134_6699+1155delCCCTCTTCCCCTCTCTCCCTCT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp1 HG02559.hp1 others(5): Show HG01081.hp2 HG02257.hp1 HG02559.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0019 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0003t0001 a0001c0003t0003	a0001c0001t0003g0088 a0001c0001t0019g0134 a0001c0003t0001g0080 others(5): Show a0001c0001t0003g0088 a0001c0001t0019g0134 a0001c0003t0001g0080 a0001c0003t0001g0094 a0001c0003t0001g0136 a0001c0003t0001g0151 a0001c0003t0001g0176 a0001c0003t0003g0171	8	218	0.0367	-22	c.513 others(41): Show c.5135-5518_5135-5497delATATATATATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19068.hp2 HG04115.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0261 a0002c0005t0001g0287 a0002c0002t0001g0261 a0002c0005t0001g0287	2	322	0.0062	-22	c.589 others(37): Show c.5898+61_5898+82delTATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45749110	CTAGGCTC others(15): Show CTAGGCTCCAGGCCCTTGACCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(149): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0001t0017 a0002c0003t0001	a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 others(149): Show a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0153 a0001c0001t0002g0248 a0001c0001t0003g0308 a0001c0001t0004g0140 a0001c0001t0004g0225 a0001c0001t0004g0244 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0015g0239 a0001c0001t0017g0246 a0002c0003t0001g0184	152	316	0.4810	-22	c.117 others(41): Show c.1173+8574_1173+8595delAGGCTCCAGGCCCTTGACCTGT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753376	GCTTTTTT others(15): Show GCTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	316	0.0032	-22	c.117 others(43): Show c.1173+12839_1173+12860delCTTTTTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11			chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01106.hp2 others(17): Show HG00642.hp1 HG00735.hp2 HG01106.hp2 HG01891.hp1 HG01891.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 NA18906.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0003c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0062 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0011g0135 a0003c0002t0001g0063	20	316	0.0633	-22	c.117 others(43): Show c.1173+12866_1173+12887delTTTTTTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1L_chr16_71840976_71862328	71845028	CAGTTAAT others(15): Show CAGTTAATTTGTAATGAATAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0037 a0001c0001t0015g0037	1	418	0.0024	-22	c.-12 others(33): Show c.-1255_-1234delAGTTAATTTGTAATGAATAATT	ATXN1L	ENSG00000224470.9	transcript	ENST00000427980.7	protein_coding		947		chr16	TogoVar
ATXN1_chr6_16294112_16766460	16402242	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0009 a0009	a0009c0042 a0009c0042	a0009c0042t0011 a0009c0042t0011	a0009c0042t0011g0047 a0009c0042t0011g0047	1	182	0.0055	-22	c.-16 others(43): Show c.-160-73794_-160-73773delAAAAAAAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16466317	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG03130.hp1 HG01884.hp2 HG02615.hp1 HG03130.hp1	a0005 a0007 a0005 a0007	a0005c0006 a0007c0009 a0005c0006 a0007c0009	a0005c0006t0003 a0007c0009t0049 a0005c0006t0003 a0007c0009t0049	a0005c0006t0003g0006 a0005c0006t0003g0114 a0007c0009t0049g0005 a0005c0006t0003g0006 a0005c0006t0003g0114 a0007c0009t0049g0005	3	182	0.0165	-22	c.-16 others(43): Show c.-161+19633_-161+19654delTTTTTTTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111483188	AACACATA others(15): Show AACACATACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	298	0.0034	-22	c.252 others(41): Show c.2524+2055_2524+2076delGTGTGTGTGTGTGTGTATGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105619522	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	252	0.0040	-22	c.151 others(39): Show c.1517+656_1517+677delAAAAAAAAAAAAAATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619524	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0038 a0001c0007t0038	a0001c0007t0038g0158 a0001c0007t0038g0158	1	252	0.0040	-22	c.151 others(39): Show c.1517+654_1517+675delAAAAAAAAAAAAAAAATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar

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