Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP6V0A2_chr12_123707353_123766755	123712076	C C	CACACACA others(11): Show CACACACACACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0144 a0001c0001t0040g0144	1	222	0.0045	18	c.-49 others(27): Show c.-490_-489insACACACACACACACACAT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		276		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123729322	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02970.hp1 HG01256.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0030 a0001c0001t0005 a0001c0001t0030	a0001c0001t0005g0124 a0001c0001t0030g0043 a0001c0001t0005g0124 a0001c0001t0030g0043	2	222	0.0090	18	c.648 others(35): Show c.648+1424_648+1425insTTTTTTTTTTTTTTTTTT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707068	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00673.hp2 others(51): Show HG00423.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18945.hp2 NA18967.hp2 NA18971.hp2 NA18986.hp2 NA18989.hp2 NA19030.hp1 NA19067.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0013	a0001c0001 a0001c0005 a0001c0007 others(12): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0023 a0001c0029 a0001c0035 a0002c0002 a0002c0003 a0002c0016 a0003c0036 a0004c0011 a0006c0009 a0013c0044	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0013t0001 a0001c0023t0001 a0001c0029t0001 a0001c0035t0001 a0002c0002t0001 a0002c0003t0001 a0002c0016t0001 a0003c0036t0001 a0004c0011t0001 a0006c0009t0001 a0013c0044t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 others(51): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0357 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0007g0374 a0001c0001t0007g0375 a0001c0001t0013g0372 a0001c0005t0001g0032 a0001c0007t0001g0153 a0001c0007t0001g0244 a0001c0007t0001g0318 a0001c0008t0001g0235 a0001c0013t0001g0103 a0001c0013t0001g0181 a0001c0013t0001g0366 a0001c0023t0001g0336 a0001c0023t0001g0350 a0001c0029t0001g0110 a0001c0035t0001g0025 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0208 a0002c0002t0001g0227 a0002c0002t0001g0247 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0291 a0002c0003t0001g0240 a0002c0016t0001g0016 a0002c0016t0001g0017 a0002c0016t0001g0284 a0003c0036t0001g0046 a0004c0011t0001g0063 a0004c0011t0001g0163 a0006c0009t0001g0202 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0258 a0006c0009t0001g0281 a0013c0044t0001g0149	54	376	0.1436	18	c.243 others(35): Show c.2430-369_2430-352dupCACACACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718201	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02630.hp1 HG03239.hp1 others(1): Show HG01074.hp2 HG02630.hp1 HG03239.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0002 a0002c0002t0001 a0001c0001t0001 a0001c0008t0002 a0002c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0008t0002g0100 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0008t0002g0100 a0002c0002t0001g0294	4	376	0.0106	18	c.214 others(37): Show c.2140-2338_2140-2321dupACACACACACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0043 a0001c0005t0002g0043	1	376	0.0027	18	c.157 others(37): Show c.1572+2424_1572+2425insATATATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19000.hp2 HG02055.hp1 NA19000.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0006 a0003c0004 a0005c0006	a0003c0004t0005 a0005c0006t0001 a0003c0004t0005 a0005c0006t0001	a0003c0004t0005g0038 a0005c0006t0001g0268 a0003c0004t0005g0038 a0005c0006t0001g0268	2	376	0.0053	18	c.132 others(35): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86104850	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02015.hp2 HG02080.hp1 others(11): Show HG00639.hp1 HG02015.hp2 HG02080.hp1 HG02602.hp2 HG03710.hp2 NA18950.hp2 NA18956.hp2 NA18959.hp1 NA18968.hp2 NA18979.hp1 NA18994.hp1 NA19003.hp2 NA19010.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0108 a0001c0001t0001g0355	14	360	0.0389	18	c.130 others(35): Show c.130+5754_130+5771dupCACACACACACACACACA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00673.hp1 others(32): Show HG00099.hp2 HG00597.hp2 HG00673.hp1 HG01358.hp1 HG01975.hp2 HG02109.hp1 HG02145.hp1 HG02300.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03579.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18955.hp2 NA18959.hp1 NA18969.hp1 NA18982.hp1 NA18988.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(31): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0212 a0001c0001t0001g0237 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0002g0192 a0001c0001t0003g0168 a0001c0001t0004g0115 a0001c0001t0004g0117	35	360	0.0972	18	c.302 others(37): Show c.302+12366_302+12383dupATATATATATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18980.hp2 NA18970.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0271 a0001c0001t0002g0248 a0001c0001t0002g0271	2	360	0.0056	18	c.639 others(35): Show c.639+2282_639+2283insAAGAAAGAAAGAAAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	360	0.0028	18	c.639 others(35): Show c.639+2282_639+2283insAAGAAAGAAAGAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0E2_chr7_149868969_149885695	149877080	G G	GTGGTCTT others(11): Show GTGGTCTTGTCAAGACCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG02683.hp1 HG00639.hp2 HG01099.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0013 a0001c0001t0016g0013	3	438	0.0069	18	c.152 others(35): Show c.152+1435_152+1436insTGGTCTTGTCAAGACCCC	ATP6V0E2	ENSG00000171130.19	transcript	ENST00000425642.3	protein_coding	2/3			chr7	TogoVar
ATP6V0E2_chr7_149868969_149885695	149877081	G G	GGGTCTTG others(11): Show GGGTCTTGTCAAGACCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(226): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 others(41): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0051 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0005g0006 a0001c0001t0005g0053 a0001c0001t0007g0007 a0001c0001t0007g0024 a0001c0001t0008g0002 a0001c0001t0009g0003 a0001c0001t0010g0008 a0001c0001t0010g0050 a0001c0001t0011g0008 a0001c0001t0011g0016 a0001c0001t0012g0023 a0001c0001t0012g0047 a0001c0001t0013g0017 a0001c0001t0014g0002 a0001c0001t0015g0018 a0001c0001t0018g0032 a0001c0001t0018g0049 a0001c0001t0021g0004 a0001c0001t0023g0052 a0001c0001t0025g0033 a0001c0001t0026g0003 a0001c0001t0028g0003 a0001c0001t0031g0002 a0001c0001t0032g0003 a0002c0002t0002g0002	229	438	0.5228	18	c.152 others(35): Show c.152+1443_152+1444insTCAAGACCCCTGGTCTTG	ATP6V0E2	ENSG00000171130.19	transcript	ENST00000425642.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0270 a0002c0006t0001g0270	1	440	0.0023	18	c.174 others(35): Show c.174+1989_174+1990insGATATATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20300.hp1 HG03098.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0012 a0003c0022 a0002c0012 a0003c0022	a0002c0012t0005 a0003c0022t0004 a0002c0012t0005 a0003c0022t0004	a0002c0012t0005g0354 a0003c0022t0004g0241 a0002c0012t0005g0354 a0003c0022t0004g0241	2	440	0.0046	18	c.114 others(35): Show c.1144-319_1144-302dupTTTTTTTTTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 NA19078.hp1 HG00738.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0063 a0001c0001t0008g0100 a0001c0001t0001g0063 a0001c0001t0008g0100	2	370	0.0054	18	c.-30 others(29): Show c.-3053_-3036dupTATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17632044	A A	AATACATG others(11): Show AATACATGCTGCCATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	370	0.0027	18	c.-34 others(29): Show c.-3427_-3410dupAAAAATGGCAGCATGTAT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		3296		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01516.hp1 others(5): Show HG00639.hp2 HG01167.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG02818.hp1 HG02965.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0022 a0001c0001t0001g0077 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0294 a0001c0001t0002g0295 a0001c0001t0005g0149 a0001c0001t0005g0171	8	410	0.0195	18	c.-10 others(37): Show c.-101-5696_-101-5679dupGTGTGTGTGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02602.hp1 HG03834.hp2 others(3): Show HG00544.hp2 HG02602.hp1 HG03834.hp2 HG06807.hp1 NA19003.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0011 a0003c0005 a0002c0011 a0003c0005	a0002c0011t0010 a0003c0005t0004 a0003c0005t0012 a0002c0011t0010 a0003c0005t0004 a0003c0005t0012	a0002c0011t0010g0080 a0003c0005t0004g0025 a0003c0005t0004g0026 others(3): Show a0002c0011t0010g0080 a0003c0005t0004g0025 a0003c0005t0004g0026 a0003c0005t0004g0029 a0003c0005t0004g0074 a0003c0005t0012g0058	6	302	0.0199	18	c.244 others(37): Show c.2448-3453_2448-3452insTTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP7B_chr13_51927669_52016450	51953868	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0005 a0017c0033t0005	a0017c0033t0005g0240 a0017c0033t0005g0240	1	302	0.0033	18	c.244 others(37): Show c.2448-3470_2448-3469insGTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0229 a0003c0006t0005g0229	1	310	0.0032	18	c.295 others(35): Show c.2958+485_2958+502dupTTTTTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448396	C C	CTTTACTT others(11): Show CTTTACTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01943.hp1 HG01952.hp1 others(2): Show HG01358.hp1 HG01943.hp1 HG01952.hp1 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0036	a0001c0001t0008g0093 a0001c0001t0008g0095 a0001c0001t0009g0278 others(2): Show a0001c0001t0008g0093 a0001c0001t0008g0095 a0001c0001t0009g0278 a0001c0001t0011g0006 a0001c0001t0036g0195	5	310	0.0161	18	c.289 others(37): Show c.2897-1753_2897-1752insAAAAAAAAAAAAAGTAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42480008	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	310	0.0032	18	c.232 others(37): Show c.2324+5487_2324+5488insAACACACACACACACACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635778	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp2 HG01358.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0030 a0001c0001t0005 a0001c0001t0030	a0001c0001t0005g0199 a0001c0001t0030g0126 a0001c0001t0005g0199 a0001c0001t0030g0126	2	310	0.0065	18	c.50- others(33): Show c.50-8670_50-8669insATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG00099.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0129 a0001c0001t0003g0215 a0001c0001t0001g0129 a0001c0001t0003g0215	2	310	0.0065	18	c.50- others(33): Show c.50-8672_50-8671insATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACATATA others(11): Show CACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG04199.hp1 NA18943.hp2 HG02293.hp1 HG04199.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 a0001c0001t0002 a0001c0001t0005 a0001c0002t0004	a0001c0001t0002g0148 a0001c0001t0005g0256 a0001c0002t0004g0016 a0001c0001t0002g0148 a0001c0001t0005g0256 a0001c0002t0004g0016	3	310	0.0097	18	c.50- others(33): Show c.50-8674_50-8673insATATATATATATATATGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 HG01175.hp2 others(3): Show HG00639.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0013	a0001c0001t0001g0152 a0001c0001t0002g0132 a0001c0001t0003g0267 others(3): Show a0001c0001t0001g0152 a0001c0001t0002g0132 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0008g0064 a0001c0002t0013g0092	6	310	0.0194	18	c.50- others(33): Show c.50-8691_50-8674dupATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACACGCGC others(11): Show ACACGCGCGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01884.hp2 others(11): Show HG00099.hp1 HG01106.hp1 HG01884.hp2 HG02155.hp1 HG02300.hp1 HG02647.hp2 HG02735.hp1 HG03471.hp1 HG03704.hp1 NA18940.hp1 NA18960.hp1 NA18980.hp1 NA19060.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0071 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0128 a0001c0001t0003g0266 a0001c0001t0004g0025 a0001c0001t0005g0199 a0001c0001t0005g0282 a0001c0001t0008g0137 a0001c0002t0002g0029	14	310	0.0452	18	c.50- others(33): Show c.50-9048_50-9047insCGCGCGCGCACGCGCGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25435937	G G	GTGTGTGT others(11): Show GTGTGTGTGAGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0019 a0001c0020t0019	a0001c0020t0019g0067 a0001c0020t0019g0067	1	122	0.0082	18	c.77- others(35): Show c.77-33032_77-33031insAGTGTGTGTATGTGTGTG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25506940	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0062 a0001c0001t0011g0063	2	122	0.0164	18	c.222 others(37): Show c.222-23054_222-23037dupATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	G G	GTATGTAT others(11): Show GTATGTATGTATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	122	0.0082	18	c.275 others(37): Show c.2754+1479_2754+1480insGTATGTATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25853394	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03195.hp2 HG03486.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0015 a0001c0003t0008 a0001c0005t0023 a0001c0001t0015 a0001c0003t0008 a0001c0005t0023	a0001c0001t0015g0082 a0001c0003t0008g0010 a0001c0005t0023g0002 a0001c0001t0015g0082 a0001c0003t0008g0010 a0001c0005t0023g0002	3	122	0.0246	18	c.295 others(37): Show c.2957-6800_2957-6799insTATATATATATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	30/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25881578	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp2 NA18906.hp2 HG02723.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0030 a0001c0002t0028 a0001c0007t0007 a0001c0001t0030 a0001c0002t0028 a0001c0007t0007	a0001c0001t0030g0087 a0001c0002t0028g0014 a0001c0007t0007g0094 a0001c0001t0030g0087 a0001c0002t0028g0014 a0001c0007t0007g0094	3	122	0.0246	18	c.318 others(39): Show c.3183+19201_3183+19218dupGAGAAAGAGAGAGAGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25889245	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02055.hp2 others(10): Show HG01243.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0020 a0001c0021	a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 others(10): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0002t0020 a0001c0002t0023 a0001c0003t0008 a0001c0003t0062 a0001c0005t0044 a0001c0008t0013 a0001c0009t0038 a0001c0010t0056 a0001c0020t0019 a0001c0021t0055	a0001c0001t0003g0093 a0001c0001t0010g0100 a0001c0001t0013g0005 others(10): Show a0001c0001t0003g0093 a0001c0001t0010g0100 a0001c0001t0013g0005 a0001c0002t0020g0097 a0001c0002t0023g0013 a0001c0003t0008g0010 a0001c0003t0062g0024 a0001c0005t0044g0018 a0001c0008t0013g0074 a0001c0009t0038g0112 a0001c0010t0056g0006 a0001c0020t0019g0067 a0001c0021t0055g0077	13	122	0.1066	18	c.318 others(39): Show c.3183+26849_3183+26866dupTATATATATATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02622.hp1 HG02895.hp2 others(1): Show HG02015.hp2 HG02622.hp1 HG02895.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0006t0020	a0001c0002t0001g0035 a0001c0002t0002g0037 a0001c0002t0016g0011 others(1): Show a0001c0002t0001g0035 a0001c0002t0002g0037 a0001c0002t0016g0011 a0001c0006t0020g0085	4	122	0.0328	18	c.318 others(39): Show c.3183+30079_3183+30096dupTCTCTCTCTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25902939	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02622.hp2 HG02630.hp2 others(1): Show HG01261.hp1 HG02622.hp2 HG02630.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0016 a0001c0001t0042 others(1): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0042 a0001c0002t0032	a0001c0001t0010g0100 a0001c0001t0016g0104 a0001c0001t0042g0059 others(1): Show a0001c0001t0010g0100 a0001c0001t0016g0104 a0001c0001t0042g0059 a0001c0002t0032g0023	4	122	0.0328	18	c.318 others(39): Show c.3183+40547_3183+40564dupACACACACACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25977026	T T	TCCACCCC others(11): Show TCCACCCCCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp2 others(29): Show HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG02015.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 NA18522.hp2 NA18906.hp1 NA18952.hp1 NA18952.hp2 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19043.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0014 a0001c0015	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(28): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0028 a0001c0002t0031 a0001c0002t0047 a0001c0002t0063 a0001c0002t0070 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0027 a0001c0003t0065 a0001c0003t0069 a0001c0004t0002 a0001c0007t0007 a0001c0012t0002 a0001c0014t0034 a0001c0015t0008	a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0015g0082 others(29): Show a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0015g0082 a0001c0001t0025g0009 a0001c0001t0026g0090 a0001c0001t0035g0043 a0001c0001t0042g0059 a0001c0001t0046g0045 a0001c0001t0048g0122 a0001c0001t0054g0103 a0001c0002t0001g0060 a0001c0002t0002g0037 a0001c0002t0010g0118 a0001c0002t0028g0014 a0001c0002t0031g0058 a0001c0002t0047g0076 a0001c0002t0063g0050 a0001c0002t0070g0068 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0027g0047 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0007t0007g0094 a0001c0012t0002g0110 a0001c0014t0034g0064 a0001c0015t0008g0015	32	122	0.2623	18	c.337 others(37): Show c.3377+8350_3377+8367dupACCCCCACCCCCACCCCC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	35/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01891.hp1 others(7): Show HG01175.hp1 HG01175.hp2 HG01891.hp1 HG02293.hp2 HG02630.hp2 HG02738.hp2 HG03098.hp1 HG03688.hp2 HG03704.hp1 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0003 a0001c0001 a0001c0012 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0012t0035 a0003c0003t0018 a0003c0003t0022	a0001c0001t0001g0096 a0001c0001t0004g0022 a0001c0001t0004g0087 others(7): Show a0001c0001t0001g0096 a0001c0001t0004g0022 a0001c0001t0004g0087 a0001c0001t0007g0226 a0001c0001t0008g0079 a0001c0001t0010g0169 a0001c0001t0020g0171 a0001c0012t0035g0008 a0003c0003t0018g0267 a0003c0003t0022g0111	10	314	0.0319	18	c.353 others(35): Show c.3532-171_3532-170insTACACACACACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18968.hp2 NA19009.hp1 HG00738.hp2 NA18968.hp2 NA19009.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0020 a0001c0001 a0012c0020	a0001c0001t0003 a0001c0001t0005 a0012c0020t0012 a0001c0001t0003 a0001c0001t0005 a0012c0020t0012	a0001c0001t0003g0211 a0001c0001t0005g0064 a0012c0020t0012g0173 a0001c0001t0003g0211 a0001c0001t0005g0064 a0012c0020t0012g0173	3	314	0.0096	18	c.163 others(37): Show c.1630+3741_1630+3758dupTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57726226	C C	CAAACAAA others(11): Show CAAACAAAAACAAAAACAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03139.hp1 others(2): Show HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0048	a0001c0001t0002g0301 a0001c0001t0004g0103 a0001c0001t0010g0152 others(2): Show a0001c0001t0002g0301 a0001c0001t0004g0103 a0001c0001t0010g0152 a0001c0001t0010g0164 a0001c0001t0048g0312	5	314	0.0159	18	c.181 others(35): Show c.181+5400_181+5401insTTGTTTTTGTTTTTGTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57752207	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp2 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0279 a0001c0001t0001g0003 a0001c0001t0002g0279	2	314	0.0064	18	c.-25 others(37): Show c.-25-20393_-25-20376dupATTATTATTATTATTATT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG01106.hp1 others(6): Show HG00408.hp2 HG00733.hp2 HG01106.hp1 HG01516.hp2 HG01517.hp1 HG02622.hp1 HG03491.hp2 HG03688.hp2 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0003c0003t0022 a0003c0003t0024	a0001c0001t0001g0049 a0001c0001t0004g0044 a0001c0001t0005g0118 others(6): Show a0001c0001t0001g0049 a0001c0001t0004g0044 a0001c0001t0005g0118 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0015g0177 a0003c0003t0022g0111 a0003c0003t0024g0144 a0003c0003t0024g0185	9	314	0.0287	18	c.-25 others(37): Show c.-25-24474_-25-24473insCATATATATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154355219	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	382	0.0026	18	c.61 others(29): Show c.6101_*6102insACACACACACACACACAC	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding		3916		chr1	TogoVar
ATP8B4_chr15_49853238_50124233	50072980	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0052 a0003c0003t0002g0052	1	254	0.0039	18	c.87+ others(33): Show c.87+1146_87+1147insTATATATATATAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072980	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	254	0.0039	18	c.87+ others(33): Show c.87+1146_87+1147insTATATATAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	T T	TTATATAT others(11): Show TTATATATGATATATATCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01168.hp1 others(8): Show HG00642.hp2 HG00733.hp2 HG01168.hp1 HG01255.hp2 HG01978.hp2 HG02738.hp1 HG02738.hp2 HG03225.hp1 HG03710.hp1 HG04199.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0028 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008	a0001c0001t0028g0175 a0002c0002t0001g0124 a0002c0002t0001g0130 others(8): Show a0001c0001t0028g0175 a0002c0002t0001g0124 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0147 a0002c0002t0001g0232 a0002c0002t0003g0119 a0002c0002t0003g0129 a0002c0002t0003g0229 a0002c0002t0008g0226	11	254	0.0433	18	c.29- others(35): Show c.29-11693_29-11692insTGATATATATCATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TTTATATA others(11): Show TTTATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01192.hp2 others(6): Show HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01934.hp1 HG02148.hp2 HG02647.hp1 HG02735.hp1 HG03942.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0011c0011	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0003c0003t0013 a0011c0011t0001	a0001c0001t0001g0144 a0002c0002t0001g0128 a0002c0002t0001g0142 others(6): Show a0001c0001t0001g0144 a0002c0002t0001g0128 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0003g0120 a0002c0002t0006g0146 a0002c0002t0008g0133 a0003c0003t0013g0145 a0011c0011t0001g0127	9	254	0.0354	18	c.29- others(35): Show c.29-11774_29-11773insGATATATATCATATATAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50104866	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01069.hp2 others(22): Show HG00140.hp2 HG00323.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG02165.hp1 HG02293.hp1 HG02809.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2 NA18949.hp2 NA18969.hp1 NA18973.hp1 NA19003.hp2 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0007 a0008c0008	a0001c0001t0003 a0001c0001t0007 a0001c0001t0028 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0028 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0003 a0004c0004t0005 a0007c0007t0001 a0008c0008t0017	a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0203 others(21): Show a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0244 a0001c0001t0007g0007 a0001c0001t0028g0175 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0202 a0002c0002t0002g0009 a0003c0003t0001g0001 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0193 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0246 a0004c0004t0005g0248 a0007c0007t0001g0242 a0008c0008t0017g0025	25	254	0.0984	18	c.28+ others(33): Show c.28+2055_28+2072dupGTGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51608922	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG04199.hp1 HG02572.hp1 HG02647.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0063 a0001c0002t0015 a0001c0002t0020 a0001c0001t0063 a0001c0002t0015 a0001c0002t0020	a0001c0001t0063g0115 a0001c0002t0015g0047 a0001c0002t0020g0140 a0001c0001t0063g0115 a0001c0002t0015g0047 a0001c0002t0020g0140	3	312	0.0096	18	c.263 others(35): Show c.2637-314_2637-297dupACACACACACACACACAC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	24/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51623801	A A	AAAAAAGA others(11): Show AAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0116 a0001c0005t0046g0116	1	312	0.0032	18	c.201 others(37): Show c.2016+1390_2016+1391insCTTTCTTTCTTTCTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	18/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	T T	TTATTTAT others(11): Show TTATTTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0171 a0001c0004t0004g0171	1	312	0.0032	18	c.166 others(37): Show c.1668+1271_1668+1272insTATATATATATATAAATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar

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