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
ATP6V0D2_chr8_86093910_86159225	86145195	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02027.hp2 HG02300.hp2 others(2): Show HG01975.hp1 HG02027.hp2 HG02300.hp2 HG02886.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0150 a0001c0001t0002g0177 a0001c0001t0002g0260 others(2): Show a0001c0001t0002g0150 a0001c0001t0002g0177 a0001c0001t0002g0260 a0001c0001t0002g0282 a0001c0001t0008g0283	5	360	0.0139	8	c.639 others(25): Show c.639+2275_639+2282dupAAGAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145368	A A	AAAGAAAA others(1): Show AAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG03139.hp1 others(4): Show HG02723.hp2 HG02922.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0116 a0001c0001t0001g0131 others(4): Show a0001c0001t0001g0085 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0286 a0001c0001t0001g0337	7	360	0.0194	8	c.639 others(25): Show c.639+2414_639+2415insAAGAAAAG	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7			chr8	TogoVar
ATP6V0E1_chr5_172978771_173040445	172981383	G G	GAGGAAGG others(1): Show GAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01109.hp2 others(17): Show HG00408.hp2 HG00609.hp1 HG01109.hp2 HG01934.hp2 HG02027.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03139.hp2 NA18994.hp2 NA19012.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0021 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0286 a0001c0001t0003g0245	20	292	0.0685	8	c.-24 others(19): Show c.-2478_-2477insAGGAAGGA	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding		2387		chr5	TogoVar
ATP6V0E1_chr5_172978771_173040445	173030921	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01123.hp2 others(16): Show HG00323.hp1 HG01069.hp1 HG01123.hp2 HG01884.hp1 HG01934.hp1 HG02027.hp1 HG02451.hp2 HG03471.hp1 HG03704.hp1 HG03710.hp1 NA18964.hp2 NA18979.hp1 NA19007.hp2 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19067.hp2 NA19075.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 others(16): Show a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0081 a0001c0001t0002g0225 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0002t0001g0102	19	292	0.0651	8	c.37 others(25): Show c.37-3444_*37-3437dupATTTATTT	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1A_chr3_113742035_113817056	113772933	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG02273.hp2 others(8): Show HG01934.hp2 HG01952.hp1 HG02273.hp2 HG02300.hp1 HG02698.hp2 HG04184.hp1 NA18967.hp2 NA18980.hp2 NA18998.hp1 NA19012.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0137 a0001c0001t0003g0120 a0001c0001t0003g0121 others(7): Show a0001c0001t0001g0137 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0006g0010 a0001c0001t0006g0138 a0001c0001t0006g0140	11	312	0.0353	8	c.-13 others(25): Show c.-13-5793_-13-5786dupTTTTTTTT	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01074.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01943.hp2 HG02132.hp1 HG03041.hp1 NA18941.hp2 NA18949.hp2 NA18959.hp2 NA18971.hp2 NA18983.hp2 NA19002.hp1 NA19012.hp2 NA19063.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0010 a0002c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0002c0003t0001 a0002c0010t0002 a0002c0011t0007	a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0078 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0115 a0001c0002t0001g0200 a0001c0005t0001g0090 a0001c0005t0001g0095 a0001c0007t0001g0192 a0002c0003t0001g0324 a0002c0010t0002g0360 a0002c0011t0007g0276	15	440	0.0341	8	c.174 others(25): Show c.174+1987_174+1988insTATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG02615.hp1 others(4): Show HG00639.hp1 HG01952.hp2 HG02615.hp1 HG02922.hp2 NA18948.hp2 NA19012.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0010 others(2): Show a0001c0001 a0002c0003 a0002c0010 a0003c0004 a0003c0009	a0001c0001t0006 a0002c0003t0001 a0002c0010t0002 others(2): Show a0001c0001t0006 a0002c0003t0001 a0002c0010t0002 a0003c0004t0001 a0003c0009t0001	a0001c0001t0006g0395 a0002c0003t0001g0285 a0002c0003t0001g0298 others(4): Show a0001c0001t0006g0395 a0002c0003t0001g0285 a0002c0003t0001g0298 a0002c0010t0002g0293 a0003c0004t0001g0248 a0003c0009t0001g0247 a0003c0009t0001g0258	7	440	0.0159	8	c.174 others(25): Show c.174+2022_174+2029dupTATATATA	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(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00733.hp1 others(59): Show HG00323.hp1 HG00438.hp1 HG00733.hp1 HG00741.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01358.hp2 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp2 HG02735.hp2 HG03041.hp2 HG03239.hp2 HG03453.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0008 a0002c0010 a0003c0009 a0006c0033 a0008c0032	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0002c0003t0001 a0002c0008t0002 a0002c0010t0002 a0003c0009t0001 a0006c0033t0001 a0008c0032t0001	a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0002t0001g0004 others(56): Show a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0052 a0001c0002t0001g0109 a0001c0002t0001g0114 a0001c0002t0001g0138 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0178 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0005t0001g0059 a0001c0005t0001g0065 a0001c0005t0001g0081 a0001c0005t0001g0083 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0107 a0001c0005t0001g0118 a0001c0005t0001g0196 a0001c0007t0001g0177 a0002c0003t0001g0287 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0308 a0002c0003t0001g0319 a0002c0003t0001g0325 a0002c0003t0001g0328 a0002c0003t0001g0334 a0002c0003t0001g0337 a0002c0008t0002g0278 a0002c0008t0002g0373 a0002c0008t0002g0378 a0002c0008t0002g0379 a0002c0008t0002g0380 a0002c0010t0002g0307 a0003c0009t0001g0022 a0003c0009t0001g0214 a0003c0009t0001g0215 a0003c0009t0001g0216 a0003c0009t0001g0217 a0003c0009t0001g0224 a0003c0009t0001g0227 a0003c0009t0001g0228 a0003c0009t0001g0229 a0003c0009t0001g0232 a0003c0009t0001g0239 a0003c0009t0001g0252 a0003c0009t0001g0256 a0003c0009t0001g0258 a0006c0033t0001g0147 a0008c0032t0001g0374	62	440	0.1409	8	c.114 others(25): Show c.1144-309_1144-302dupTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70965548	T T	TAAAAAAA others(1): Show TAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG01256.hp2 others(15): Show HG00642.hp2 HG01169.hp2 HG01256.hp2 HG02257.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03704.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0003 a0002c0006 others(6): Show a0001c0001 a0002c0003 a0002c0006 a0002c0010 a0002c0011 a0002c0013 a0002c0018 a0003c0004 a0010c0030	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0002c0006t0001 a0002c0010t0002 a0002c0011t0002 a0002c0013t0002 a0002c0018t0002 a0003c0004t0001 a0010c0030t0001	a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0006g0394 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0006g0394 a0002c0003t0001g0410 a0002c0006t0001g0017 a0002c0006t0001g0290 a0002c0010t0002g0363 a0002c0011t0002g0284 a0002c0011t0002g0392 a0002c0013t0002g0386 a0002c0013t0002g0388 a0002c0013t0002g0389 a0002c0013t0002g0391 a0002c0018t0002g0341 a0003c0004t0001g0204 a0003c0004t0001g0213 a0010c0030t0001g0372	18	440	0.0409	8	c.42 others(17): Show c.427_*428insAAAAAAAA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		118		chr2	TogoVar
ATP6V1C1_chr8_103016083_103078051	103047430	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02486.hp1 HG01884.hp1 HG02145.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0014 a0001c0001t0032 a0001c0001t0011 a0001c0001t0014 a0001c0001t0032	a0001c0001t0011g0082 a0001c0001t0014g0223 a0001c0001t0032g0083 a0001c0001t0011g0082 a0001c0001t0014g0223 a0001c0001t0032g0083	3	412	0.0073	8	c.201 others(25): Show c.201-1413_201-1406dupCACACACA	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10729172	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG02896.hp2 others(4): Show HG01109.hp2 HG01167.hp2 HG02896.hp2 HG03139.hp2 HG03579.hp2 NA18968.hp1 NA19002.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0008	a0001c0001t0002 a0002c0002t0002 a0002c0002t0023 others(4): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0003t0004 a0003c0008t0003	a0001c0001t0002g0212 a0002c0002t0002g0171 a0002c0002t0023g0099 others(4): Show a0001c0001t0002g0212 a0002c0002t0002g0171 a0002c0002t0023g0099 a0002c0002t0024g0235 a0002c0002t0025g0236 a0002c0003t0004g0074 a0003c0008t0003g0122	7	354	0.0198	8	c.197 others(25): Show c.197+2606_197+2613dupTTTTTTTT	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10741892	C C	CTCCTTCC others(1): Show CTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG02630.hp1 others(1): Show HG01069.hp1 HG01192.hp1 HG02630.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0007 a0002c0002 a0002c0003 a0002c0007	a0002c0002t0001 a0002c0003t0004 a0002c0007t0009 a0002c0002t0001 a0002c0003t0004 a0002c0007t0009	a0002c0002t0001g0150 a0002c0002t0001g0225 a0002c0003t0004g0152 others(1): Show a0002c0002t0001g0150 a0002c0002t0001g0225 a0002c0003t0004g0152 a0002c0007t0009g0151	4	354	0.0113	8	c.198 others(27): Show c.198-12057_198-12050dupTTCCTTCC	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10774276	T T	TCAGAGAT others(1): Show TCAGAGATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp2 others(12): Show HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02717.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp2 NA19005.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0002c0007 a0002c0018 a0006c0014	a0001c0001t0007 a0001c0001t0013 a0002c0002t0004 others(6): Show a0001c0001t0007 a0001c0001t0013 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0005t0008 a0002c0007t0009 a0002c0018t0013 a0006c0014t0021	a0001c0001t0007g0237 a0001c0001t0013g0075 a0002c0002t0004g0123 others(12): Show a0001c0001t0007g0237 a0001c0001t0013g0075 a0002c0002t0004g0123 a0002c0002t0004g0214 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0007g0134 a0002c0002t0008g0234 a0002c0002t0008g0242 a0002c0005t0008g0158 a0002c0007t0009g0028 a0002c0007t0009g0029 a0002c0007t0009g0151 a0002c0018t0013g0217 a0006c0014t0021g0179	15	354	0.0424	8	c.639 others(23): Show c.639-510_639-503dupAGAGATGC	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10788065	C C	CAAAAAAA others(1): Show CAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01993.hp2 HG02135.hp2 others(4): Show HG01175.hp2 HG01993.hp2 HG02135.hp2 HG02155.hp1 HG03942.hp1 HG03942.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0005 a0001c0001t0002 a0002c0004t0005	a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0145 others(4): Show a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0145 a0001c0001t0002g0293 a0001c0001t0002g0325 a0001c0001t0002g0340 a0002c0004t0005g0177	7	354	0.0198	8	c.48 others(19): Show c.4802_*4803insAAAAAAAA	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding		2956		chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17629818	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01168.hp1 others(16): Show HG00140.hp2 HG00733.hp2 HG01168.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01981.hp2 HG02004.hp2 HG02109.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02970.hp1 HG03209.hp1 HG03654.hp2 HG03710.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0009 a0001c0006t0012	a0001c0001t0001g0006 a0001c0001t0002g0239 a0001c0001t0002g0254 others(16): Show a0001c0001t0001g0006 a0001c0001t0002g0239 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0293 a0001c0001t0003g0024 a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0259 a0001c0001t0003g0272 a0001c0002t0009g0285 a0001c0006t0012g0304	19	370	0.0514	8	c.-11 others(19): Show c.-1191_-1184dupGTGTGTGT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		1070		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTATATAT others(1): Show GTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03239.hp2 HG03516.hp2 others(1): Show HG01109.hp1 HG03239.hp2 HG03516.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0166 a0001c0001t0005g0138 a0001c0001t0010g0107 others(1): Show a0001c0001t0001g0166 a0001c0001t0005g0138 a0001c0001t0010g0107 a0001c0001t0010g0121	4	370	0.0108	8	c.-30 others(19): Show c.-3043_-3036dupTATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01074.hp2 others(12): Show HG00597.hp2 HG00735.hp1 HG01074.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01952.hp1 HG02040.hp1 HG02698.hp1 HG03239.hp2 HG03834.hp2 NA18943.hp2 NA18987.hp2 NA18998.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0072 others(12): Show a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0276 a0001c0001t0004g0109 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0007g0108 a0001c0001t0007g0110	15	410	0.0366	8	c.-10 others(27): Show c.-101-5686_-101-5679dupGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01981.hp1 HG01993.hp2 others(5): Show HG01169.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02572.hp1 HG02683.hp2 HG03239.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0074 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0003g0158 a0001c0001t0005g0149	8	410	0.0195	8	c.-10 others(27): Show c.-101-5954_-101-5947dupCACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46540613	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01168.hp1 others(28): Show HG00140.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02056.hp2 HG02698.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp2 NA18960.hp2 NA19010.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0003	a0001c0001t0003g0002 a0001c0001t0003g0028 a0001c0001t0003g0127 others(19): Show a0001c0001t0003g0002 a0001c0001t0003g0028 a0001c0001t0003g0127 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0303 a0001c0001t0005g0128 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0010g0170 a0001c0002t0003g0304	31	410	0.0756	8	c.-31 others(25): Show c.-310+769_-310+776dupAAAAAAAA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588510	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02896.hp2 others(1): Show HG02109.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0006g0074 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0006g0074 a0001c0001t0006g0075	4	420	0.0095	8	c.82+ others(21): Show c.82+613_82+620dupGTGTGTGT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1G1_chr9_114582769_114603879	114596982	G G	GATTCTTT others(1): Show GATTCTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG02132.hp2 others(7): Show HG00558.hp2 HG02027.hp2 HG02132.hp2 HG02155.hp1 HG02602.hp1 HG02698.hp2 HG03669.hp2 NA18948.hp2 NA18955.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0049 others(4): Show a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0011g0137 a0001c0001t0012g0017	10	420	0.0238	8	c.184 others(23): Show c.184-587_184-580dupATTCTTTT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1G3_chr1_198518222_198545680	198538891	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01257.hp2 HG01975.hp2 others(8): Show HG01070.hp2 HG01257.hp2 HG01975.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0132	11	405	0.0272	8	c.82+ others(23): Show c.82+1670_82+1677dupTTTTTTTT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53798610	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG03225.hp1 others(4): Show HG02818.hp2 HG02965.hp2 HG03225.hp1 NA18990.hp1 NA19003.hp1 NA19065.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 others(4): Show a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0148 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165	7	286	0.0245	8	c.678 others(25): Show c.678-2779_678-2772dupGTGTGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	8/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02257.hp2 NA20752.hp2 HG00438.hp1 HG02257.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0187 a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0001g0187	3	286	0.0105	8	c.307 others(25): Show c.307-2025_307-2018dupATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819585	T T	TATATATA others(1): Show TATATATAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18962.hp1 NA19000.hp1 others(1): Show HG03669.hp2 NA18962.hp1 NA19000.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 others(1): Show a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0124	4	286	0.0140	8	c.307 others(25): Show c.307-2056_307-2055insTTATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77944834	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03041.hp2 NA20129.hp1 HG00609.hp1 HG03041.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0015 a0001c0001t0003g0016 a0002c0002t0002g0042 a0001c0001t0003g0015 a0001c0001t0003g0016 a0002c0002t0002g0042	3	233	0.0129	8	c.-21 others(27): Show c.-21-26761_-21-26754dupATTTATTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77948059	A A	ATATTTAT others(1): Show ATATTTATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18961.hp1 NA18995.hp1 HG00280.hp1 NA18961.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0156 a0001c0001t0001g0202 a0001c0001t0001g0212	3	233	0.0129	8	c.-21 others(27): Show c.-21-23525_-21-23518dupTATTTATT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77948100	T T	TATTTATT others(1): Show TATTTATTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19043.hp1 HG02922.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0121 a0001c0001t0008g0123 a0001c0001t0008g0121 a0001c0001t0008g0123	2	233	0.0086	8	c.-21 others(27): Show c.-21-23518_-21-23517insTATTCATT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77956726	C C	CCTTTCTT others(1): Show CCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp1 HG01517.hp1 others(41): Show HG00642.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02738.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03516.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18969.hp1 NA18987.hp1 NA18987.hp2 NA19004.hp1 NA19011.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19083.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0001t0028 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0003c0003t0002 a0006c0007t0005	a0001c0001t0001g0005 a0001c0001t0001g0091 a0001c0001t0001g0151 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0091 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0004g0152 a0001c0001t0004g0165 a0001c0001t0004g0210 a0001c0001t0004g0215 a0001c0001t0004g0219 a0001c0001t0005g0003 a0001c0001t0005g0140 a0001c0001t0005g0217 a0001c0001t0005g0224 a0001c0001t0024g0213 a0001c0001t0028g0011 a0002c0002t0002g0023 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0195 a0002c0002t0002g0223 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0006g0001 a0002c0002t0006g0107 a0002c0002t0006g0108 a0002c0002t0006g0109 a0002c0002t0006g0110 a0002c0002t0006g0112 a0002c0002t0012g0114 a0003c0003t0002g0061 a0006c0007t0005g0138	44	233	0.1888	8	c.-21 others(27): Show c.-21-14840_-21-14833dupTTCTTTCT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77987444	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0129 a0002c0002t0003g0083 a0001c0001t0005g0129 a0002c0002t0003g0083	2	233	0.0086	8	c.121 others(23): Show c.121-762_121-755dupGTGTGTGT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78002799	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0124 a0001c0001t0008g0124	1	233	0.0043	8	c.154 others(25): Show c.1544-236_1544-229dupCACACACA	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78022487	A A	ATGTTTGT others(1): Show ATGTTTGTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 NA19063.hp1 others(1): Show HG00544.hp2 HG00609.hp1 NA19063.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0012 others(1): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0012 a0002c0002t0018	a0001c0001t0003g0015 a0002c0002t0002g0042 a0002c0002t0012g0114 others(1): Show a0001c0001t0003g0015 a0002c0002t0002g0042 a0002c0002t0012g0114 a0002c0002t0018g0076	4	233	0.0172	8	c.291 others(27): Show c.2916+1422_2916+1429dupGTTTGTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78022501	G G	GTTTATTT others(1): Show GTTTATTTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0082	1	233	0.0043	8	c.291 others(27): Show c.2916+1425_2916+1426insATTTATTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78022505	G G	GTTTATTT others(1): Show GTTTATTTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03688.hp1 NA19089.hp1 HG00673.hp1 HG03688.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0094 a0001c0001t0001g0172 a0001c0008t0001g0177 a0001c0001t0001g0094 a0001c0001t0001g0172 a0001c0008t0001g0177	3	233	0.0129	8	c.291 others(27): Show c.2916+1449_2916+1456dupTATTTATT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78022505	G G	GTTTGTTT others(1): Show GTTTGTTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(48): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01243.hp1 HG01496.hp2 HG01943.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG03239.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18987.hp1 NA18994.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0009c0010	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0003c0003t0002 a0009c0010t0026	a0001c0001t0001g0218 a0001c0001t0007g0017 a0002c0002t0002g0023 others(47): Show a0001c0001t0001g0218 a0001c0001t0007g0017 a0002c0002t0002g0023 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0116 a0002c0002t0002g0195 a0002c0002t0002g0223 a0002c0002t0003g0028 a0002c0002t0003g0035 a0002c0002t0003g0046 a0002c0002t0003g0058 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0006g0001 a0002c0002t0006g0105 a0002c0002t0006g0106 a0002c0002t0006g0107 a0002c0002t0006g0108 a0002c0002t0006g0109 a0002c0002t0006g0110 a0002c0002t0006g0111 a0002c0002t0006g0112 a0002c0002t0006g0113 a0002c0002t0013g0075 a0002c0002t0014g0073 a0002c0002t0015g0009 a0003c0003t0002g0043 a0009c0010t0026g0104	51	233	0.2189	8	c.291 others(27): Show c.2916+1429_2916+1430insGTTTATTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8A1_chr4_42403373_42662105	42468430	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp2 others(19): Show HG00099.hp2 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01943.hp1 HG01952.hp1 HG02074.hp1 HG02293.hp2 HG03239.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 NA18956.hp2 NA18978.hp2 NA18988.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037	a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0215 others(19): Show a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0215 a0001c0001t0008g0064 a0001c0001t0008g0084 a0001c0001t0008g0093 a0001c0001t0008g0095 a0001c0001t0008g0100 a0001c0001t0009g0205 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0009g0221 a0001c0001t0009g0224 a0001c0001t0009g0278 a0001c0001t0033g0304 a0001c0001t0035g0244 a0001c0001t0036g0195 a0001c0001t0037g0203	22	310	0.0710	8	c.232 others(27): Show c.2325-3362_2325-3355dupGTGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42472767	G G	GAGAGAAA others(1): Show GAGAGAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(47): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02451.hp2 HG02602.hp2 HG02647.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp2 NA18968.hp1 NA18975.hp2 NA18990.hp1 NA18994.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp2 NA19079.hp1 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0006c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0022 a0001c0004t0020 a0001c0008t0006 a0006c0009t0008	a0001c0001t0001g0152 a0001c0001t0005g0301 a0001c0001t0006g0192 others(47): Show a0001c0001t0001g0152 a0001c0001t0005g0301 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0006g0264 a0001c0001t0006g0300 a0001c0001t0007g0045 a0001c0001t0007g0052 a0001c0001t0007g0070 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0125 a0001c0001t0007g0130 a0001c0001t0007g0142 a0001c0001t0007g0151 a0001c0001t0007g0154 a0001c0001t0025g0010 a0001c0002t0002g0029 a0001c0002t0003g0188 a0001c0002t0013g0108 a0001c0002t0022g0001 a0001c0004t0020g0028 a0001c0008t0006g0198 a0006c0009t0008g0114	50	310	0.1613	8	c.232 others(27): Show c.2325-7692_2325-7691insTTTTCTCT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42479996	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01069.hp1 others(19): Show HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01515.hp2 HG02258.hp1 HG02622.hp1 HG02698.hp1 HG02970.hp2 HG03041.hp1 HG03239.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 NA18522.hp1 NA18940.hp1 NA18956.hp1 NA19057.hp1 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0038 a0001c0002t0023 a0001c0003t0005 a0002c0005t0031 a0003c0006t0005	a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0057 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0005g0282 a0001c0001t0005g0309 a0001c0001t0008g0017 a0001c0001t0010g0291 a0001c0001t0011g0004 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0302 a0001c0001t0038g0310 a0001c0002t0023g0008 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0284 a0002c0005t0031g0307 a0003c0006t0005g0219	22	310	0.0710	8	c.232 others(27): Show c.2324+5492_2324+5499dupCACACACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42507798	A A	AAACAAAA others(1): Show AAACAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(42): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02129.hp2 HG02602.hp2 HG03491.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18941.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18968.hp1 NA18975.hp2 NA18978.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0006c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0025 a0001c0001t0035 a0001c0002t0013 a0001c0003t0001 a0001c0008t0006 a0006c0009t0008	a0001c0001t0001g0152 a0001c0001t0005g0298 a0001c0001t0005g0301 others(42): Show a0001c0001t0001g0152 a0001c0001t0005g0298 a0001c0001t0005g0301 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0222 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0006g0264 a0001c0001t0006g0300 a0001c0001t0007g0045 a0001c0001t0007g0052 a0001c0001t0007g0070 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0123 a0001c0001t0007g0130 a0001c0001t0007g0154 a0001c0001t0008g0100 a0001c0001t0009g0221 a0001c0001t0025g0010 a0001c0001t0035g0244 a0001c0002t0013g0108 a0001c0003t0001g0173 a0001c0008t0006g0198 a0006c0009t0008g0114	45	310	0.1452	8	c.194 others(25): Show c.1948-645_1948-644insGTTTTGTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	22/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555085	G G	GTATCTAT others(1): Show GTATCTATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02129.hp2 HG02602.hp1 others(5): Show HG00438.hp1 HG02129.hp2 HG02602.hp1 HG03098.hp2 HG04115.hp2 HG04228.hp2 NA18956.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0009	a0001c0001t0002g0141 a0001c0001t0003g0259 a0001c0001t0006g0222 others(5): Show a0001c0001t0002g0141 a0001c0001t0003g0259 a0001c0001t0006g0222 a0001c0001t0006g0246 a0001c0001t0006g0300 a0001c0001t0007g0079 a0001c0001t0009g0221 a0001c0002t0009g0185	8	310	0.0258	8	c.141 others(25): Show c.1413+875_1413+882dupGATAGATA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	A A	AATCTATC others(1): Show AATCTATCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01358.hp2 HG02129.hp1 others(5): Show HG00558.hp2 HG01358.hp2 HG02129.hp1 HG04115.hp2 NA18747.hp2 NA18953.hp1 NA18962.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0030 a0001c0008t0006	a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0005g0247 others(5): Show a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0005g0247 a0001c0001t0006g0237 a0001c0001t0006g0253 a0001c0001t0007g0079 a0001c0001t0030g0126 a0001c0008t0006g0198	8	310	0.0258	8	c.141 others(25): Show c.1413+821_1413+828dupAGATAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	A A	ATCTAATC others(1): Show ATCTAATCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp2 NA19077.hp2 others(1): Show HG02622.hp1 NA19030.hp2 NA19077.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0004	a0001c0001t0002g0124 a0001c0001t0003g0231 a0001c0001t0012g0302 others(1): Show a0001c0001t0002g0124 a0001c0001t0003g0231 a0001c0001t0012g0302 a0001c0002t0004g0131	4	310	0.0129	8	c.141 others(25): Show c.1413+828_1413+829insAGATTAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	A A	ATCTATCT others(1): Show ATCTATCTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02615.hp1 HG03225.hp1 others(1): Show HG02273.hp1 HG02615.hp1 HG03225.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0014 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0014 a0001c0002t0016	a0001c0001t0002g0183 a0001c0001t0007g0101 a0001c0002t0014g0276 others(1): Show a0001c0001t0002g0183 a0001c0001t0007g0101 a0001c0002t0014g0276 a0001c0002t0016g0032	4	310	0.0129	8	c.141 others(25): Show c.1413+828_1413+829insAAGATAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	A A	ATCTTATC others(1): Show ATCTTATCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02155.hp1 HG02922.hp2 others(1): Show HG01433.hp2 HG02155.hp1 HG02922.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0002g0181	4	310	0.0129	8	c.141 others(25): Show c.1413+828_1413+829insAGATAAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42604430	T T	TGACATAA others(1): Show TGACATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(217): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0007 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0022 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0021 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0020 a0001c0008t0006 a0002c0007t0001 a0005c0010t0014 a0006c0009t0008	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0047 others(217): Show a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0075 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0161 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0004g0025 a0001c0001t0004g0031 a0001c0001t0004g0076 a0001c0001t0005g0186 a0001c0001t0005g0196 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0226 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0256 a0001c0001t0005g0265 a0001c0001t0005g0282 a0001c0001t0005g0298 a0001c0001t0005g0301 a0001c0001t0005g0309 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0258 a0001c0001t0006g0264 a0001c0001t0006g0300 a0001c0001t0007g0045 a0001c0001t0007g0052 a0001c0001t0007g0070 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0125 a0001c0001t0007g0130 a0001c0001t0007g0142 a0001c0001t0008g0017 a0001c0001t0008g0064 a0001c0001t0008g0077 a0001c0001t0008g0084 a0001c0001t0008g0100 a0001c0001t0008g0120 a0001c0001t0008g0137 a0001c0001t0009g0205 a0001c0001t0009g0221 a0001c0001t0011g0002 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0015g0003 a0001c0001t0017g0080 a0001c0001t0017g0081 a0001c0001t0021g0187 a0001c0001t0024g0009 a0001c0001t0028g0056 a0001c0001t0029g0036 a0001c0001t0032g0279 a0001c0001t0035g0244 a0001c0001t0036g0195 a0001c0001t0037g0203 a0001c0002t0002g0029 a0001c0002t0003g0188 a0001c0002t0004g0016 a0001c0002t0004g0018 a0001c0002t0004g0030 a0001c0002t0004g0033 a0001c0002t0004g0068 a0001c0002t0004g0109 a0001c0002t0005g0189 a0001c0002t0005g0191 a0001c0002t0010g0225 a0001c0002t0010g0260 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0013g0108 a0001c0002t0014g0194 a0001c0002t0014g0276 a0001c0002t0016g0026 a0001c0002t0016g0032 a0001c0002t0022g0001 a0001c0003t0001g0173 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0180 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0227 a0001c0003t0005g0284 a0001c0003t0009g0287 a0001c0003t0021g0190 a0001c0004t0003g0297 a0001c0004t0004g0099 a0001c0004t0004g0110 a0001c0004t0004g0134 a0001c0004t0004g0140 a0001c0004t0005g0306 a0001c0004t0010g0184 a0001c0004t0010g0283 a0001c0004t0010g0285 a0001c0004t0010g0286 a0001c0004t0010g0292 a0001c0004t0010g0295 a0001c0004t0010g0299 a0001c0004t0020g0028 a0001c0008t0006g0198 a0002c0007t0001g0133 a0005c0010t0014g0277 a0006c0009t0008g0114	220	310	0.7097	8	c.410 others(25): Show c.410-3913_410-3912insTTTATGTC	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	5/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42623009	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(39): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18906.hp2 NA19012.hp1 NA19070.hp2 NA20129.hp1 NA20752.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0010 others(1): Show a0001c0001 a0001c0002 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0037 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0014 a0005c0010t0014 a0006c0009t0008	a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0015 others(39): Show a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0003g0197 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0005g0202 a0001c0001t0009g0205 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0021g0187 a0001c0001t0024g0009 a0001c0001t0029g0036 a0001c0001t0037g0203 a0001c0002t0004g0016 a0001c0002t0005g0191 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0014g0276 a0005c0010t0014g0277 a0006c0009t0008g0114	42	310	0.1355	8	c.363 others(25): Show c.363+1519_363+1526dupTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	4/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635778	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp1 NA19079.hp2 HG02976.hp2 HG03471.hp1 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0001c0001t0004 a0004c0011t0005 a0001c0001t0002 a0001c0001t0004 a0004c0011t0005	a0001c0001t0002g0014 a0001c0001t0004g0025 a0004c0011t0005g0228 a0001c0001t0002g0014 a0001c0001t0004g0025 a0004c0011t0005g0228	3	310	0.0097	8	c.50- others(23): Show c.50-8670_50-8669insATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18962.hp1 NA18989.hp1 others(2): Show HG03704.hp2 NA18962.hp1 NA18989.hp1 NA19030.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0003t0008	a0001c0001t0001g0165 a0001c0001t0002g0058 a0001c0001t0005g0255 others(2): Show a0001c0001t0001g0165 a0001c0001t0002g0058 a0001c0001t0005g0255 a0001c0001t0009g0213 a0001c0003t0008g0145	5	310	0.0161	8	c.50- others(23): Show c.50-8672_50-8671insATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01515.hp2 HG02015.hp1 others(8): Show HG00733.hp2 HG01515.hp2 HG02015.hp1 HG02293.hp2 HG02486.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03540.hp1 NA19077.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0004 a0001c0004t0010 a0003c0006t0001	a0001c0001t0001g0057 a0001c0001t0008g0093 a0001c0001t0012g0290 others(8): Show a0001c0001t0001g0057 a0001c0001t0008g0093 a0001c0001t0012g0290 a0001c0003t0001g0173 a0001c0003t0002g0180 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0004t0004g0110 a0001c0004t0010g0285 a0001c0004t0010g0295 a0003c0006t0001g0159	11	310	0.0355	8	c.50- others(23): Show c.50-8681_50-8674dupATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCC others(1): Show TTCTTTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp1 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0048 a0001c0015t0008 a0001c0001t0048 a0001c0015t0008	a0001c0001t0048g0122 a0001c0015t0008g0015 a0001c0001t0048g0122 a0001c0015t0008g0015	2	122	0.0164	8	c.77- others(23): Show c.77-3238_77-3237insTTTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar

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