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
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(4): Show AAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	360	0.0028	11	c.639 others(28): Show c.639+2282_639+2283insAAGAAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145370	G G	GAAAGAAA others(4): Show GAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01358.hp1 others(11): Show HG01081.hp1 HG01109.hp2 HG01358.hp1 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02300.hp1 HG03225.hp1 HG03834.hp1 HG03927.hp2 NA18951.hp1 NA18983.hp2 NA19072.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0030 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0175 a0001c0001t0001g0189 a0001c0001t0001g0253 a0001c0001t0001g0291 a0001c0001t0003g0220 a0001c0001t0003g0231	14	360	0.0389	11	c.639 others(28): Show c.639+2418_639+2419insAGAAAAGAAAA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0E1_chr5_172978771_173040445	172996574	A A	AAAAAAAC others(4): Show AAAAAAACATAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0203	1	292	0.0034	11	c.152 others(28): Show c.152+1753_152+1754insAAAAACATACA	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02280.hp1 others(8): Show HG01891.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp1 HG03130.hp1 HG03579.hp2 NA18522.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0007 a0002c0006 others(3): Show a0001c0001 a0001c0007 a0002c0006 a0002c0011 a0002c0013 a0009c0028	a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 a0002c0006t0001 a0002c0011t0002 a0002c0013t0002 a0009c0028t0001	a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0037 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0143 a0001c0001t0006g0394 a0001c0007t0001g0045 a0002c0006t0001g0269 a0002c0011t0002g0350 a0002c0013t0002g0388 a0009c0028t0001g0342	11	440	0.0250	11	c.114 others(28): Show c.1144-312_1144-302dupTTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C1_chr8_103016083_103078051	103047464	A A	ACACACAC others(4): Show ACACACACACAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp1 HG02615.hp1 HG00597.hp1 HG01496.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0027g0144 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0027g0144	3	412	0.0073	11	c.201 others(28): Show c.201-1406_201-1405insCACACACACAT	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	3/12			chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10729172	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02622.hp1 others(8): Show HG01496.hp2 HG01884.hp2 HG02622.hp1 HG02897.hp1 HG03041.hp2 HG03486.hp1 HG03516.hp1 NA18960.hp1 NA19009.hp2 NA19062.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 others(8): Show a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0104 a0002c0002t0004g0107 a0002c0002t0007g0106 a0002c0002t0010g0105 a0002c0002t0010g0108	11	354	0.0311	11	c.197 others(28): Show c.197+2613_197+2614insTTTTTTTTTTT	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10739973	G G	GCACCTGT others(4): Show GCACCTGTAATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(350): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0006 a0001c0015 others(15): Show a0001c0001 a0001c0006 a0001c0015 a0001c0016 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0013 a0002c0018 a0003c0008 a0003c0010 a0004c0011 a0005c0012 a0006c0014 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0006t0005 a0001c0015t0006 a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0004t0005 a0002c0005t0001 a0002c0005t0003 a0002c0005t0008 a0002c0007t0009 a0002c0009t0004 a0002c0009t0022 a0002c0013t0001 a0002c0018t0013 a0003c0008t0003 a0003c0010t0002 a0004c0011t0017 a0005c0012t0003 a0006c0014t0021 a0007c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(347): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0279 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0336 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0110 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0330 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0349 a0001c0001t0004g0097 a0001c0001t0004g0114 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0001t0006g0335 a0001c0001t0007g0088 a0001c0001t0007g0237 a0001c0001t0008g0245 a0001c0001t0008g0259 a0001c0001t0011g0081 a0001c0001t0011g0348 a0001c0001t0013g0075 a0001c0001t0016g0220 a0001c0001t0020g0056 a0001c0001t0026g0100 a0001c0006t0005g0042 a0001c0006t0005g0308 a0001c0006t0005g0337 a0001c0015t0006g0247 a0001c0016t0001g0156 a0002c0002t0001g0005 a0002c0002t0001g0035 a0002c0002t0001g0051 a0002c0002t0001g0062 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0130 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0150 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0241 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0281 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0300 a0002c0002t0001g0302 a0002c0002t0001g0306 a0002c0002t0001g0313 a0002c0002t0001g0319 a0002c0002t0001g0328 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0031 a0002c0002t0002g0039 a0002c0002t0002g0098 a0002c0002t0002g0124 a0002c0002t0002g0133 a0002c0002t0002g0147 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0280 a0002c0002t0002g0304 a0002c0002t0002g0311 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0321 a0002c0002t0002g0329 a0002c0002t0002g0342 a0002c0002t0002g0351 a0002c0002t0003g0215 a0002c0002t0003g0224 a0002c0002t0003g0229 a0002c0002t0003g0243 a0002c0002t0003g0246 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0258 a0002c0002t0004g0103 a0002c0002t0004g0107 a0002c0002t0004g0117 a0002c0002t0004g0123 a0002c0002t0004g0214 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0006g0227 a0002c0002t0006g0228 a0002c0002t0006g0240 a0002c0002t0006g0244 a0002c0002t0007g0106 a0002c0002t0007g0134 a0002c0002t0007g0223 a0002c0002t0007g0232 a0002c0002t0008g0234 a0002c0002t0008g0242 a0002c0002t0010g0105 a0002c0002t0010g0108 a0002c0002t0014g0222 a0002c0002t0015g0221 a0002c0002t0018g0078 a0002c0002t0019g0049 a0002c0002t0023g0099 a0002c0002t0024g0235 a0002c0002t0025g0236 a0002c0003t0002g0009 a0002c0003t0002g0063 a0002c0003t0002g0068 a0002c0003t0002g0082 a0002c0003t0002g0084 a0002c0003t0002g0086 a0002c0003t0002g0093 a0002c0003t0002g0118 a0002c0003t0002g0121 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0129 a0002c0003t0002g0142 a0002c0003t0002g0148 a0002c0003t0002g0273 a0002c0003t0002g0277 a0002c0003t0002g0312 a0002c0003t0004g0058 a0002c0003t0004g0074 a0002c0003t0004g0077 a0002c0003t0004g0125 a0002c0003t0004g0135 a0002c0003t0004g0152 a0002c0003t0012g0160 a0002c0003t0012g0230 a0002c0004t0005g0045 a0002c0004t0005g0046 a0002c0004t0005g0085 a0002c0004t0005g0095 a0002c0004t0005g0109 a0002c0004t0005g0137 a0002c0004t0005g0140 a0002c0004t0005g0143 a0002c0004t0005g0162 a0002c0004t0005g0177 a0002c0004t0005g0285 a0002c0004t0005g0327 a0002c0005t0001g0116 a0002c0005t0003g0154 a0002c0005t0003g0159 a0002c0005t0008g0158 a0002c0007t0009g0028 a0002c0007t0009g0029 a0002c0007t0009g0151 a0002c0009t0004g0157 a0002c0009t0022g0155 a0002c0013t0001g0139 a0002c0018t0013g0217 a0003c0008t0003g0122 a0003c0008t0003g0146 a0003c0010t0002g0260 a0004c0011t0017g0149 a0005c0012t0003g0231 a0006c0014t0021g0179 a0007c0017t0001g0216	353	354	0.9972	11	c.197 others(30): Show c.197+13406_197+13407insCCTGTAATCCA	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	370	0.0027	11	c.-30 others(22): Show c.-3072_-3071insATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(4): Show ATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02818.hp2 NA18951.hp1 others(2): Show HG00673.hp2 HG02818.hp2 NA18951.hp1 NA19003.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0069 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0069 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0152	5	370	0.0135	11	c.-30 others(22): Show c.-3072_-3071insAAATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(4): Show ATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18999.hp1 NA18975.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0146 a0001c0001t0001g0164	2	370	0.0054	11	c.-30 others(22): Show c.-3072_-3071insAAAAATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATTT others(4): Show ATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	370	0.0027	11	c.-30 others(22): Show c.-3072_-3071insAAAAAAATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	370	0.0027	11	c.-30 others(22): Show c.-3082_-3072dupAAAAAAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631707	T T	TATATATA others(4): Show TATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	370	0.0027	11	c.-30 others(22): Show c.-3073_-3072insTATATATATAT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2959		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46539085	C C	CCATTTAA others(4): Show CCATTTAAACCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004 a0004c0007 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001 a0003c0004t0005 a0004c0007t0002 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(204): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0295 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0297 a0001c0001t0003g0303 a0001c0001t0005g0029 a0001c0001t0005g0095 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0140 a0001c0001t0005g0147 a0001c0001t0005g0149 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0008g0043 a0001c0001t0009g0044 a0001c0001t0010g0170 a0001c0001t0011g0279 a0001c0002t0002g0030 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0005t0001g0270 a0003c0004t0005g0133 a0003c0004t0005g0143 a0004c0007t0002g0246 a0005c0009t0001g0218	298	410	0.7268	11	c.-31 others(30): Show c.-310+2304_-310+2305insTGGTTTAAATG	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46540613	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18943.hp1 HG02809.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0131 a0001c0001t0005g0132 a0001c0001t0003g0131 a0001c0001t0005g0132	2	410	0.0049	11	c.-31 others(28): Show c.-310+766_-310+776dupAAAAAAAAAAA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588540	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	420	0.0024	11	c.82+ others(24): Show c.82+620_82+621insGTGTGTGTGTG	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2			chr9	TogoVar
ATP6V1G3_chr1_198518222_198545680	198538891	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18906.hp1 NA19077.hp2 HG02723.hp1 NA18906.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0128 a0001c0001t0001g0141 a0002c0002t0001g0088 a0001c0001t0001g0128 a0001c0001t0001g0141 a0002c0002t0001g0088	3	405	0.0074	11	c.82+ others(26): Show c.82+1667_82+1677dupTTTTTTTTTTT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53810406	G G	GATTATTT others(4): Show GATTATTTACGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	286	0.0070	11	c.579 others(26): Show c.579+757_579+758insACGTAAATAAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	7/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77956726	C C	CCTTCTTT others(4): Show CCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	233	0.0043	11	c.-21 others(30): Show c.-21-14892_-21-14891insCTTTCTTTCTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78037980	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01069.hp1 others(24): Show HG00438.hp1 HG00609.hp1 HG01069.hp1 HG01074.hp1 HG01255.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02040.hp1 HG02486.hp1 HG02698.hp1 HG03654.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18960.hp1 NA18975.hp2 NA18987.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19076.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0002c0002t0014 a0003c0003t0002	a0002c0002t0002g0042 a0002c0002t0002g0051 a0002c0002t0002g0053 others(23): Show a0002c0002t0002g0042 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0060 a0002c0002t0002g0067 a0002c0002t0002g0074 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0035 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0058 a0002c0002t0006g0001 a0002c0002t0006g0105 a0002c0002t0006g0106 a0002c0002t0006g0107 a0002c0002t0006g0111 a0002c0002t0006g0112 a0002c0002t0006g0113 a0002c0002t0012g0114 a0002c0002t0014g0073 a0003c0003t0002g0047 a0003c0003t0002g0057	27	233	0.1159	11	c.351 others(28): Show c.3512-840_3512-830dupTTTTTTTTTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02258.hp1 HG02572.hp2	a0003 a0003	a0003c0015 a0003c0034 a0003c0015 a0003c0034	a0003c0015t0005 a0003c0034t0005 a0003c0015t0005 a0003c0034t0005	a0003c0015t0005g0273 a0003c0034t0005g0279 a0003c0015t0005g0273 a0003c0034t0005g0279	2	302	0.0066	11	c.244 others(30): Show c.2448-3463_2448-3453dupTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18983.hp1 NA18962.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0165 a0001c0001t0001g0047 a0001c0001t0001g0165	2	310	0.0065	11	c.295 others(28): Show c.2958+492_2958+502dupTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42446098	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG03579.hp1 HG01099.hp2 HG02257.hp1 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0004 a0002c0005t0031 a0002c0007t0001 a0002c0005t0004 a0002c0005t0031 a0002c0007t0001	a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0133 a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0133	3	310	0.0097	11	c.295 others(28): Show c.2958+484_2958+485insCTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448401	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp1 others(65): Show HG00099.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG02015.hp1 HG02129.hp1 HG02155.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02970.hp2 HG03130.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0003t0001 a0001c0003t0005 a0003c0006t0001 a0003c0006t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(65): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0005g0196 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0226 a0001c0001t0005g0247 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0265 a0001c0001t0006g0253 a0001c0001t0008g0017 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0302 a0001c0001t0012g0303 a0001c0001t0027g0023 a0001c0001t0028g0056 a0001c0001t0030g0126 a0001c0003t0001g0173 a0001c0003t0005g0227 a0003c0006t0001g0159 a0003c0006t0001g0160 a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0229	68	310	0.2194	11	c.289 others(30): Show c.2897-1768_2897-1758dupAAAAAAAAAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42576475	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00735.hp2 others(9): Show HG00438.hp2 HG00558.hp1 HG00735.hp2 HG01081.hp1 HG01192.hp1 HG04184.hp2 NA18952.hp1 NA18968.hp2 NA18990.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0003c0006t0005	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0094 others(9): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0008g0084 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0217 a0003c0006t0005g0229	12	310	0.0387	11	c.112 others(28): Show c.1129-787_1129-777dupTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	12/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465663	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	122	0.0082	11	c.77- others(26): Show c.77-3312_77-3311insCTTTCTTTCTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTCCC others(4): Show TTCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0056 a0001c0010t0056	a0001c0010t0056g0006 a0001c0010t0056g0006	1	122	0.0082	11	c.77- others(26): Show c.77-3238_77-3237insTTCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531137	G G	GTATATAT others(4): Show GTATATATATGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00738.hp2 others(63): Show HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(59): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0066 a0001c0001t0072 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0002t0070 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0018 a0001c0003t0027 a0001c0003t0060 a0001c0003t0061 a0001c0003t0062 a0001c0003t0065 a0001c0003t0069 a0001c0003t0073 a0001c0005t0012 a0001c0005t0021 a0001c0005t0023 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057 a0001c0009t0037 a0001c0011t0017 a0001c0014t0034 a0001c0015t0008 a0001c0016t0045 a0001c0018t0024 a0001c0019t0007 a0001c0020t0019	a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 others(63): Show a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0005g0102 a0001c0001t0008g0073 a0001c0001t0009g0065 a0001c0001t0010g0100 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 a0001c0001t0015g0082 a0001c0001t0016g0104 a0001c0001t0017g0051 a0001c0001t0018g0041 a0001c0001t0025g0009 a0001c0001t0026g0090 a0001c0001t0030g0087 a0001c0001t0035g0043 a0001c0001t0040g0038 a0001c0001t0041g0044 a0001c0001t0042g0059 a0001c0001t0046g0045 a0001c0001t0048g0122 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0001t0066g0092 a0001c0001t0072g0027 a0001c0002t0001g0039 a0001c0002t0001g0069 a0001c0002t0005g0034 a0001c0002t0006g0119 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0002t0070g0068 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 a0001c0003t0007g0109 a0001c0003t0008g0010 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0003t0060g0115 a0001c0003t0061g0055 a0001c0003t0062g0024 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0003t0073g0001 a0001c0005t0012g0020 a0001c0005t0021g0030 a0001c0005t0023g0002 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0009t0037g0008 a0001c0011t0017g0121 a0001c0014t0034g0064 a0001c0015t0008g0015 a0001c0016t0045g0105 a0001c0018t0024g0066 a0001c0019t0007g0029 a0001c0020t0019g0067	66	122	0.5410	11	c.420 others(26): Show c.420+488_420+498dupTTATATATATG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531140	T T	TATATATG others(4): Show TATATATGTTAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0111 a0001c0003t0014g0111	1	122	0.0082	11	c.420 others(26): Show c.420+490_420+491insCATATATGTTA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531148	T T	TTATATAT others(4): Show TTATATATATGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA21309.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0052 a0001c0005t0044 a0001c0003t0052 a0001c0005t0044	a0001c0003t0052g0113 a0001c0005t0044g0018 a0001c0003t0052g0113 a0001c0005t0044g0018	2	122	0.0164	11	c.420 others(26): Show c.420+496_420+506dupATGATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25720167	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02015.hp1 HG02630.hp1 others(7): Show HG01081.hp1 HG02015.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02976.hp2 HG03540.hp2 NA18952.hp1 NA18977.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0014 a0001c0016 a0001c0017 a0001c0018	a0001c0001t0059 a0001c0003t0001 a0001c0003t0007 others(7): Show a0001c0001t0059 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0001c0003t0014 a0001c0004t0005 a0001c0014t0034 a0001c0016t0045 a0001c0017t0036 a0001c0018t0024	a0001c0001t0059g0022 a0001c0003t0001g0106 a0001c0003t0007g0109 others(7): Show a0001c0001t0059g0022 a0001c0003t0001g0106 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0014g0111 a0001c0004t0005g0089 a0001c0014t0034g0064 a0001c0016t0045g0105 a0001c0017t0036g0019 a0001c0018t0024g0066	10	122	0.0820	11	c.238 others(32): Show c.2384+20830_2384+20840dupTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25744325	A A	ACCCCCCC others(4): Show ACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp1 HG02647.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0073 a0001c0014t0034 a0001c0003t0073 a0001c0014t0034	a0001c0003t0073g0001 a0001c0014t0034g0064 a0001c0003t0073g0001 a0001c0014t0034g0064	2	122	0.0164	11	c.238 others(32): Show c.2385-24714_2385-24713insCCCCCCCCCCC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(4): Show CTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02055.hp2 HG02886.hp1 others(5): Show HG00642.hp2 HG02055.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0016	a0001c0001t0003 a0001c0001t0009 a0001c0001t0025 others(5): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0025 a0001c0003t0008 a0001c0004t0003 a0001c0007t0005 a0001c0010t0056 a0001c0016t0045	a0001c0001t0003g0093 a0001c0001t0009g0065 a0001c0001t0025g0009 others(5): Show a0001c0001t0003g0093 a0001c0001t0009g0065 a0001c0001t0025g0009 a0001c0003t0008g0010 a0001c0004t0003g0007 a0001c0007t0005g0021 a0001c0010t0056g0006 a0001c0016t0045g0105	8	122	0.0656	11	c.318 others(32): Show c.3184-24210_3184-24209insCTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02280.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0059 a0001c0009t0037 a0001c0001t0059 a0001c0009t0037	a0001c0001t0059g0022 a0001c0009t0037g0008 a0001c0001t0059g0022 a0001c0009t0037g0008	2	122	0.0164	11	c.318 others(32): Show c.3184-24206_3184-24196dupTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57782803	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp1 HG02257.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0087 a0001c0001t0007g0280 a0001c0001t0004g0087 a0001c0001t0007g0280	2	314	0.0064	11	c.-26 others(30): Show c.-26+20184_-26+20194dupAAAAAAAAAAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154322489	C C	CTTCTTCT others(4): Show CTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00738.hp2 others(48): Show HG00099.hp1 HG00597.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01358.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02004.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02622.hp1 HG02683.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18970.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18999.hp2 NA19080.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0017 a0001c0003 a0001c0004 a0001c0017	a0001c0003t0009 a0001c0004t0004 a0001c0004t0005 others(8): Show a0001c0003t0009 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0017 a0001c0004t0018 a0001c0004t0021 a0001c0004t0022 a0001c0004t0028 a0001c0004t0029 a0001c0017t0005	a0001c0003t0009g0024 a0001c0004t0004g0012 a0001c0004t0004g0137 others(23): Show a0001c0003t0009g0024 a0001c0004t0004g0012 a0001c0004t0004g0137 a0001c0004t0004g0146 a0001c0004t0005g0003 a0001c0004t0005g0136 a0001c0004t0005g0138 a0001c0004t0005g0139 a0001c0004t0005g0140 a0001c0004t0005g0141 a0001c0004t0005g0142 a0001c0004t0005g0143 a0001c0004t0005g0145 a0001c0004t0005g0149 a0001c0004t0005g0150 a0001c0004t0005g0151 a0001c0004t0005g0152 a0001c0004t0005g0158 a0001c0004t0006g0148 a0001c0004t0017g0003 a0001c0004t0018g0003 a0001c0004t0021g0144 a0001c0004t0022g0032 a0001c0004t0028g0147 a0001c0004t0029g0046 a0001c0017t0005g0032	51	382	0.1335	11	c.-32 others(22): Show c.-3251_-3250insTTCTTCTTCTT	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding		3035		chr1	TogoVar
ATP8B3_chr19_1777075_1817276	1781597	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0361 a0003c0002t0004g0361	1	390	0.0026	11	c.14 others(22): Show c.1430_*1431insTTTTTTTTTTT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		477		chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1817141	T T	TGGGGCCA others(4): Show TGGGGCCAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0249 a0002c0003t0005g0249	1	390	0.0026	11	c.-51 others(22): Show c.-5115_-5105dupCATCTGGCCCC	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		4866		chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50029238	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp1 HG02056.hp1 others(10): Show HG00438.hp1 HG01099.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02145.hp1 HG02486.hp2 HG02965.hp2 HG03225.hp2 HG03654.hp1 NA18953.hp2 NA19000.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0004c0004t0005	a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0001g0139 others(10): Show a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0002g0026 a0001c0001t0002g0055 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0004g0074 a0001c0001t0013g0102 a0001c0001t0016g0031 a0004c0004t0005g0248	13	254	0.0512	11	c.362 others(28): Show c.362+9519_362+9529dupTTTTTTTTTTT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085919	G G	GATATATA others(4): Show GATATATATCAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02717.hp1 HG02451.hp1 HG02451.hp2 HG02717.hp1	a0009 a0012 a0009 a0012	a0009c0009 a0012c0013 a0009c0009 a0012c0013	a0009c0009t0001 a0009c0009t0024 a0012c0013t0010 a0009c0009t0001 a0009c0009t0024 a0012c0013t0010	a0009c0009t0001g0187 a0009c0009t0024g0186 a0012c0013t0010g0223 a0009c0009t0001g0187 a0009c0009t0024g0186 a0012c0013t0010g0223	3	254	0.0118	11	c.29- others(28): Show c.29-11745_29-11735dupATGATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085945	G G	GATATATA others(4): Show GATATATATCAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02717.hp1 HG02451.hp1 HG02451.hp2 HG02717.hp1	a0009 a0012 a0009 a0012	a0009c0009 a0012c0013 a0009c0009 a0012c0013	a0009c0009t0001 a0009c0009t0024 a0012c0013t0010 a0009c0009t0001 a0009c0009t0024 a0012c0013t0010	a0009c0009t0001g0187 a0009c0009t0024g0186 a0012c0013t0010g0223 a0009c0009t0001g0187 a0009c0009t0024g0186 a0012c0013t0010g0223	3	254	0.0118	11	c.29- others(28): Show c.29-11771_29-11761dupATGATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50119752	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	254	0.0039	11	c.-68 others(20): Show c.-683_-673dupAAAAAAAAAAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding		520		chr15	TogoVar
ATP9A_chr20_51591514_51773390	51634855	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG01070.hp1 others(4): Show HG00544.hp1 HG00642.hp2 HG01070.hp1 HG01358.hp1 HG03831.hp2 NA19010.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0062	a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0208 others(4): Show a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0002g0259 a0001c0001t0006g0104 a0001c0001t0013g0051 a0001c0001t0062g0292	7	312	0.0224	11	c.166 others(30): Show c.1668+4477_1668+4487dupTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51641831	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19077.hp1 NA18957.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0280 a0001c0001t0002g0271 a0001c0001t0002g0280	2	312	0.0064	11	c.150 others(30): Show c.1507-2338_1507-2328dupTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02723.hp1 HG02818.hp2 others(2): Show HG01175.hp2 HG02723.hp1 HG02818.hp2 NA18968.hp1 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0015 a0001c0003 a0001c0004 a0001c0015	a0001c0003t0007 a0001c0004t0002 a0001c0004t0017 others(2): Show a0001c0003t0007 a0001c0004t0002 a0001c0004t0017 a0001c0004t0025 a0001c0015t0015	a0001c0003t0007g0224 a0001c0004t0002g0203 a0001c0004t0017g0170 others(2): Show a0001c0003t0007g0224 a0001c0004t0002g0203 a0001c0004t0017g0170 a0001c0004t0025g0175 a0001c0015t0015g0017	5	312	0.0160	11	c.129 others(30): Show c.1294-1749_1294-1739dupCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGTGGGG others(4): Show CGGTGGGGCGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18966.hp1 HG00642.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0055 a0001c0001t0001 a0001c0001t0055	a0001c0001t0001g0186 a0001c0001t0055g0260 a0001c0001t0001g0186 a0001c0001t0055g0260	2	312	0.0064	11	c.129 others(30): Show c.1294-1739_1294-1738insCCCGCCCCACC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51682577	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG04228.hp2 NA19005.hp2 others(2): Show HG01168.hp1 HG04228.hp2 NA19005.hp2 NA19056.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0022 a0001c0001t0036 others(1): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0036 a0001c0002t0005	a0001c0001t0003g0012 a0001c0001t0003g0069 a0001c0001t0022g0103 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0069 a0001c0001t0022g0103 a0001c0001t0036g0096 a0001c0002t0005g0054	5	312	0.0160	11	c.800 others(28): Show c.800-6380_800-6370dupAAAAAAAAAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51765642	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0088 a0001c0003t0060g0088	1	312	0.0032	11	c.68+ others(26): Show c.68+2649_68+2659dupTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51766646	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0204 a0001c0003t0010g0204	1	312	0.0032	11	c.68+ others(26): Show c.68+1655_68+1656insCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071049	C C	CTTTTTTC others(4): Show CTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02257.hp2 others(16): Show HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02723.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA21309.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0006 a0001c0010 a0003c0007 others(2): Show a0001c0006 a0001c0010 a0003c0007 a0003c0021 a0014c0022	a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 others(5): Show a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0001 a0001c0010t0004 a0003c0007t0004 a0003c0021t0004 a0014c0022t0004	a0001c0006t0003g0281 a0001c0006t0004g0291 a0001c0006t0004g0292 others(16): Show a0001c0006t0003g0281 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0010t0001g0296 a0001c0010t0004g0277 a0001c0010t0004g0295 a0001c0010t0004g0297 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0021t0004g0284 a0014c0022t0004g0276	19	298	0.0638	11	c.119 others(28): Show c.119+1526_119+1527insCTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)