Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results 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
ATP6V1E1_chr22_17587136_17633749	17609110	AAAAC AAAAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02055.hp2 others(24): Show HG01192.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 a0001c0002t0009 a0001c0006t0012	a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0003g0020 others(22): Show a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0226 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0009g0204 a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0006t0012g0304	27	370	0.0730	-4	c.276 others(21): Show c.276+3698_276+3701delGTTT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17610250	ATAAC ATAAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02055.hp2 others(24): Show HG01192.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 a0001c0002t0009 a0001c0006t0012	a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0003g0020 others(22): Show a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0226 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0009g0204 a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0006t0012g0304	27	370	0.0730	-4	c.276 others(21): Show c.276+2558_276+2561delGTTA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17616034	AAAAC AAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(121): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0009 a0003c0007t0002 a0004c0008t0002	a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0122 others(115): Show a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0320 a0001c0001t0003g0238 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0004g0010 a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0305 a0001c0001t0005g0138 a0001c0001t0005g0149 a0001c0001t0014g0324 a0001c0002t0009g0285 a0003c0007t0002g0233 a0004c0008t0002g0193	124	370	0.3351	-4	c.100 others(21): Show c.100-2718_100-2715delGTTT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	2/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17629818	TACAC TACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG02300.hp2 others(16): Show HG00741.hp1 HG02258.hp2 HG02300.hp2 HG02622.hp2 HG03139.hp1 HG03453.hp1 HG03490.hp2 HG03540.hp1 NA18747.hp2 NA18943.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18995.hp2 NA18999.hp1 NA19012.hp2 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0040 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046	19	370	0.0514	-4	c.-11 others(15): Show c.-1187_-1184delGTGT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		1070		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631658	ATGTG ATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02895.hp2 HG02897.hp1 others(9): Show HG01978.hp2 HG02895.hp2 HG02897.hp1 HG04228.hp2 NA18962.hp2 NA18975.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA19077.hp1 NA19078.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0034 a0001c0001t0002g0237 a0001c0001t0002g0267 others(9): Show a0001c0001t0001g0034 a0001c0001t0002g0237 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0003g0268 a0001c0001t0011g0322 a0001c0001t0011g0323 a0001c0001t0014g0324	12	370	0.0324	-4	c.-30 others(15): Show c.-3027_-3024delCACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2910		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46509517	AAAAC AAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02129.hp2 HG03834.hp2 others(5): Show HG02056.hp1 HG02129.hp2 HG03834.hp2 NA18975.hp2 NA19005.hp2 NA19059.hp1 NA19080.hp2 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0004 a0004c0007t0002 a0001c0001t0002 a0001c0001t0004 a0004c0007t0002	a0001c0001t0002g0033 a0001c0001t0002g0206 a0001c0001t0002g0244 others(4): Show a0001c0001t0002g0033 a0001c0001t0002g0206 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0269 a0001c0001t0004g0109 a0004c0007t0002g0246	8	410	0.0195	-4	c.25 others(15): Show c.2510_*2513delGTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		2329		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	AACAC AACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(135): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0008t0002	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0265 others(92): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0190 a0001c0001t0002g0203 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0288 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0201 a0001c0001t0003g0297 a0001c0001t0003g0303 a0001c0001t0004g0101 a0001c0001t0004g0112 a0001c0001t0004g0123 a0001c0001t0004g0199 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0137 a0001c0001t0005g0140 a0001c0001t0005g0147 a0001c0001t0009g0044 a0001c0001t0010g0170 a0001c0008t0002g0292	138	410	0.3366	-4	c.-10 others(23): Show c.-101-5682_-101-5679delGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	TTGTG TTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG01106.hp2 others(24): Show HG00140.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG02602.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp1 NA18612.hp2 NA18906.hp2 NA18957.hp1 NA18967.hp1 NA18983.hp1 NA18992.hp1 NA18999.hp2 NA19002.hp2 NA19066.hp2 NA19082.hp1 NA19088.hp2 NA20129.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0003c0004t0005	a0001c0001t0001g0224 a0001c0001t0001g0265 a0001c0001t0001g0287 others(18): Show a0001c0001t0001g0224 a0001c0001t0001g0265 a0001c0001t0001g0287 a0001c0001t0002g0007 a0001c0001t0002g0040 a0001c0001t0002g0191 a0001c0001t0002g0205 a0001c0001t0002g0282 a0001c0001t0003g0097 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0004g0106 a0001c0001t0004g0114 a0001c0001t0004g0200 a0001c0001t0005g0128 a0001c0002t0002g0030 a0001c0002t0002g0212 a0001c0002t0002g0213 a0003c0004t0005g0133	27	410	0.0659	-4	c.-10 others(23): Show c.-101-5950_-101-5947delCACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46533203	GTAGA GTAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(241): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0004c0007 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001 a0004c0007t0002 a0006c0006t0007	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0090 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0041 a0001c0001t0003g0097 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0166 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0186 a0001c0001t0003g0201 a0001c0001t0003g0297 a0001c0001t0004g0024 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0001t0004g0109 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0124 a0001c0001t0004g0199 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0005g0147 a0001c0001t0005g0149 a0001c0001t0005g0163 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0006g0086 a0001c0001t0007g0108 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0008g0043 a0001c0001t0009g0044 a0001c0001t0010g0170 a0001c0001t0011g0279 a0001c0002t0002g0030 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0304 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0005t0001g0270 a0004c0007t0002g0246 a0006c0006t0007g0296	244	410	0.5951	-4	c.-10 others(23): Show c.-102+2606_-102+2609delTCTA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46537971	TAAAA TAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp2 HG03209.hp2 HG02886.hp1 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0289	3	410	0.0073	-4	c.-30 others(23): Show c.-309-1272_-309-1269delTTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546472	ATGTG ATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01884.hp1 HG02280.hp1 others(4): Show HG00621.hp1 HG01884.hp1 HG02280.hp1 HG02630.hp2 HG02897.hp1 HG02970.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0184 others(4): Show a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0201 a0001c0001t0005g0180 a0001c0001t0007g0111	7	410	0.0171	-4	c.-46 others(15): Show c.-4633_-4630delCACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3896		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546474	GTGTA GTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02132.hp1 HG02717.hp1 others(3): Show HG01433.hp2 HG02132.hp1 HG02717.hp1 HG03195.hp2 NA19058.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0286 a0001c0001t0002g0102 a0001c0001t0004g0009 others(3): Show a0001c0001t0001g0286 a0001c0001t0002g0102 a0001c0001t0004g0009 a0001c0001t0004g0114 a0001c0001t0004g0122 a0001c0001t0007g0014	6	410	0.0146	-4	c.-46 others(15): Show c.-4635_-4632delTACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3898		chr2	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128861823	ATTTT ATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG02145.hp1 others(20): Show HG00642.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp1 NA19067.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0034 a0001c0001t0038	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0004g0004 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0004g0004 a0001c0001t0009g0004 a0001c0001t0011g0004 a0001c0001t0017g0004 a0001c0001t0034g0024 a0001c0001t0038g0004	23	442	0.0520	-4	c.-45 others(15): Show c.-4586_-4583delTTTT	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		4506		chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128864862	TAGAG TAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02886.hp1 HG03225.hp2 others(1): Show HG01433.hp2 HG02886.hp1 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0024g0001 a0001c0001t0001g0001 a0001c0001t0024g0001	4	442	0.0091	-4	c.-15 others(15): Show c.-1547_-1544delAGAG	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		1467		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128858576	TACAC TACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02615.hp2 HG03688.hp2 others(4): Show HG00639.hp1 HG02615.hp2 HG03688.hp2 NA18977.hp1 NA18983.hp2 NA18986.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	7	442	0.0158	-4	c.-43 others(15): Show c.-4328_-4325delACAC	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		4279		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128861823	ATTTT ATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG02145.hp1 others(20): Show HG00642.hp2 HG01099.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA19067.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0002g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0017	23	442	0.0520	-4	c.-10 others(15): Show c.-1081_-1078delTTTT	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		1032		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128864862	TAGAG TAGAG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02886.hp2 HG03225.hp2 others(1): Show HG01433.hp1 HG02886.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0018 a0001c0001t0001g0042	4	442	0.0091	-4	c.159 others(19): Show c.159-496_159-493delAGAG	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588510	AGTGT AGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(125): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp2 NA18984.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0002c0002t0004 a0003c0003t0002	a0001c0001t0001g0196 a0001c0001t0002g0001 a0001c0001t0002g0008 others(54): Show a0001c0001t0001g0196 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0003g0142 a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0043 a0001c0001t0004g0053 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0007g0029 a0001c0001t0013g0152 a0001c0001t0015g0022 a0001c0001t0017g0148 a0002c0002t0004g0015 a0002c0002t0004g0146 a0002c0002t0004g0153 a0002c0002t0004g0156 a0003c0003t0002g0001 a0003c0003t0002g0046	128	420	0.3048	-4	c.82+ others(17): Show c.82+617_82+620delGTGT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1G2_chr6_31539444_31551608	31546376	GCTGT GCTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0003g0005 a0001c0001t0004g0009 a0001c0001t0005g0010 a0001c0001t0006g0011 a0001c0001t0006g0019 a0001c0001t0007g0014 a0002c0002t0004g0015	389	435	0.8943	-4	c.82+ others(16): Show c.82+98_82+101delACAG	ATP6V1G2	ENSG00000213760.11	transcript	ENST00000303892.10	protein_coding	1/2			chr6	TogoVar
ATP6V1G3_chr1_198518222_198545680	198529195	AATAT AATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp2 HG02083.hp1 others(10): Show HG00558.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02523.hp2 NA18612.hp2 NA18992.hp1 NA18995.hp1 NA19009.hp2 NA19065.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0113	13	405	0.0321	-4	c.83- others(15): Show c.83-18_83-15delATAT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATAT CATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01243.hp2 others(3): Show HG01069.hp2 HG01071.hp2 HG01243.hp2 HG02074.hp1 NA19077.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0181 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0223	6	286	0.0210	-4	c.127 others(21): Show c.1277+866_1277+869delATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765454	AACAC AACAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02129.hp1 HG02572.hp1 others(15): Show HG02109.hp2 HG02129.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG03041.hp1 HG03540.hp1 HG03579.hp1 HG03942.hp1 HG06807.hp2 NA18978.hp2 NA18999.hp1 NA19006.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0041 others(15): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0282 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0006t0001g0281	18	286	0.0629	-4	c.117 others(23): Show c.1175+4160_1175+4163delGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	CATAT CATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01071.hp1 others(11): Show HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01358.hp2 HG02074.hp1 HG02257.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0059 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0183 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0006t0001g0281	14	286	0.0490	-4	c.307 others(21): Show c.307-2021_307-2018delATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53826619	CCTGT CCTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02572.hp2 HG03098.hp1 HG00280.hp2 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0077 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0001g0077 a0001c0001t0004g0265 a0001c0001t0004g0266	3	286	0.0105	-4	c.306 others(21): Show c.306+2821_306+2824delACAG	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77906980	TTTTG TTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0007 a0007c0016t0007	a0007c0016t0007g0231 a0007c0016t0007g0231	1	233	0.0043	-4	c.-38 others(15): Show c.-3876_-3873delTTTG	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding		3712		chrX	TogoVar
ATP7A_chrX_77905693_78055395	77937885	TCTCA TCTCA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0008 a0005c0006t0008	a0005c0006t0008g0120 a0005c0006t0008g0120	1	233	0.0043	-4	c.-22 others(23): Show c.-22+27052_-22+27055delTCAC	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77937887	TCACA TCACA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04184.hp1 HG02602.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0139 a0001c0001t0005g0140 a0001c0001t0001g0139 a0001c0001t0005g0140	2	233	0.0086	-4	c.-22 others(23): Show c.-22+27073_-22+27076delCACA	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77944834	GTATT GTATT	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	233	0.0043	-4	c.-21 others(23): Show c.-21-26757_-21-26754delATTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77948059	ATATT ATATT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp1 HG01261.hp1 others(26): Show HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01952.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03831.hp1 NA18955.hp1 NA18975.hp1 NA18990.hp1 NA19000.hp1 NA19058.hp1 NA19060.hp1 NA19089.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0002c0002 a0006c0007 others(1): Show a0001c0001 a0002c0002 a0006c0007 a0013c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0028 a0002c0002t0003 a0006c0007t0005 a0013c0011t0007	a0001c0001t0001g0005 a0001c0001t0001g0170 a0001c0001t0001g0172 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0003g0016 a0001c0001t0004g0153 a0001c0001t0004g0161 a0001c0001t0004g0200 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0219 a0001c0001t0004g0230 a0001c0001t0005g0013 a0001c0001t0005g0147 a0001c0001t0005g0217 a0001c0001t0005g0224 a0001c0001t0007g0008 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0010g0012 a0001c0001t0020g0014 a0001c0001t0028g0011 a0002c0002t0003g0083 a0006c0007t0005g0138 a0013c0011t0007g0175	29	233	0.1245	-4	c.-21 others(23): Show c.-21-23521_-21-23518delTATT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77948100	TATTC TATTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(71): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01255.hp1 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0001c0014 a0002c0002 others(3): Show a0001c0001 a0001c0014 a0002c0002 a0003c0003 a0008c0009 a0009c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0014t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0018 a0003c0003t0002 a0008c0009t0003 a0009c0010t0026	a0001c0001t0001g0096 a0001c0001t0001g0151 a0001c0001t0001g0194 others(70): Show a0001c0001t0001g0096 a0001c0001t0001g0151 a0001c0001t0001g0194 a0001c0001t0004g0143 a0001c0001t0005g0142 a0001c0001t0005g0145 a0001c0001t0005g0148 a0001c0001t0005g0227 a0001c0014t0005g0146 a0002c0002t0002g0037 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0103 a0002c0002t0002g0116 a0002c0002t0002g0195 a0002c0002t0003g0024 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0046 a0002c0002t0003g0063 a0002c0002t0003g0066 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0006g0001 a0002c0002t0006g0105 a0002c0002t0006g0106 a0002c0002t0006g0107 a0002c0002t0006g0108 a0002c0002t0006g0109 a0002c0002t0006g0110 a0002c0002t0006g0111 a0002c0002t0006g0112 a0002c0002t0006g0113 a0002c0002t0012g0114 a0002c0002t0013g0075 a0002c0002t0014g0073 a0002c0002t0015g0009 a0002c0002t0016g0084 a0002c0002t0018g0076 a0003c0003t0002g0047 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0061 a0008c0009t0003g0078 a0009c0010t0026g0104	74	233	0.3176	-4	c.-21 others(23): Show c.-21-23500_-21-23497delATTC	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77956726	CCTTT CCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01243.hp1 others(16): Show HG01081.hp2 HG01169.hp1 HG01243.hp1 HG02040.hp1 HG02074.hp1 HG02273.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03209.hp1 HG03492.hp1 HG04115.hp1 NA18612.hp1 NA18951.hp1 NA18977.hp1 NA18988.hp1 NA19000.hp1 NA19005.hp1 NA19055.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0011 a0001c0001 a0002c0002 a0013c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0002c0002t0002 a0002c0002t0003 a0002c0002t0013 a0013c0011t0007	a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0090 others(16): Show a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0004g0169 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0206 a0001c0001t0007g0006 a0001c0001t0007g0008 a0001c0001t0007g0017 a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0003g0065 a0002c0002t0003g0079 a0002c0002t0013g0075 a0013c0011t0007g0175	19	233	0.0816	-4	c.-21 others(23): Show c.-21-14836_-21-14833delTTCT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77989108	TAAGA TAAGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	233	0.0043	-4	c.611 others(19): Show c.611-122_611-119delGAAA	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	3/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78002799	TACAC TACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01081.hp2 others(14): Show HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01884.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03492.hp1 HG03516.hp1 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0002c0002 a0006c0007 others(2): Show a0001c0001 a0002c0002 a0006c0007 a0007c0016 a0008c0009	a0001c0001t0001 a0001c0001t0005 a0002c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0003 a0002c0002t0013 a0002c0002t0016 a0006c0007t0005 a0007c0016t0007 a0008c0009t0003	a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0005g0144 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0005g0144 a0001c0001t0005g0224 a0002c0002t0003g0024 a0002c0002t0003g0036 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0082 a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0117 a0002c0002t0013g0075 a0002c0002t0016g0084 a0006c0007t0005g0138 a0007c0016t0007g0231 a0008c0009t0003g0078	17	233	0.0730	-4	c.154 others(21): Show c.1544-232_1544-229delCACA	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78010526	CTGCA CTGCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	233	0.0043	-4	c.187 others(21): Show c.1870-648_1870-645delGCAT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	7/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78014405	AAAAT AAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0013 a0001c0001t0010g0141 a0001c0001t0005g0013 a0001c0001t0010g0141	2	233	0.0086	-4	c.240 others(21): Show c.2407-234_2407-231delATAA	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78017765	CTTTT CTTTT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	233	0.0043	-4	c.262 others(23): Show c.2626+1910_2626+1913delTTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	12/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78027993	GTATT GTATT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(46): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00735.hp1 HG01081.hp2 HG01109.hp1 HG01169.hp1 HG01261.hp1 HG01358.hp1 HG01952.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp1 HG02698.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG04184.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18959.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19074.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0015 a0006c0007t0005	a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0179 others(46): Show a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0212 a0001c0001t0003g0015 a0001c0001t0004g0027 a0001c0001t0004g0143 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0161 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0186 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0229 a0001c0001t0005g0130 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0140 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0217 a0001c0001t0005g0224 a0001c0001t0007g0007 a0001c0001t0020g0014 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0003g0039 a0002c0002t0006g0106 a0002c0002t0013g0075 a0002c0002t0015g0009 a0006c0007t0005g0138	49	233	0.2103	-4	c.291 others(23): Show c.2917-1215_2917-1212delATTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51928273	TTTTG TTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG03516.hp2 HG02055.hp1 HG02559.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0181 a0003c0003t0006g0183 a0003c0003t0006g0184 a0003c0003t0006g0181 a0003c0003t0006g0183 a0003c0003t0006g0184	3	302	0.0099	-4	c.64 others(15): Show c.6479_*6482delCAAA	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding		4395		chr13	TogoVar
ATP7B_chr13_51927669_52016450	51940000	CTTTT CTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(94): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18945.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18984.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19060.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0011 others(2): Show a0002 a0003 a0011 a0012 a0014	a0002c0002 a0002c0011 a0002c0014 others(8): Show a0002c0002 a0002c0011 a0002c0014 a0002c0020 a0002c0023 a0003c0003 a0003c0005 a0003c0032 a0011c0021 a0012c0018 a0014c0024	a0002c0002t0002 a0002c0002t0008 a0002c0002t0020 others(18): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0020 a0002c0002t0023 a0002c0011t0010 a0002c0014t0002 a0002c0020t0002 a0002c0023t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0013 a0003c0003t0016 a0003c0003t0021 a0003c0005t0004 a0003c0005t0012 a0003c0032t0005 a0011c0021t0002 a0012c0018t0002 a0014c0024t0005	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 others(88): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0041 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0135 a0002c0002t0008g0267 a0002c0002t0008g0276 a0002c0002t0020g0054 a0002c0002t0023g0086 a0002c0011t0010g0082 a0002c0014t0002g0052 a0002c0020t0002g0051 a0002c0023t0002g0089 a0003c0003t0004g0037 a0003c0003t0004g0130 a0003c0003t0004g0131 a0003c0003t0004g0132 a0003c0003t0004g0133 a0003c0003t0004g0134 a0003c0003t0004g0138 a0003c0003t0004g0139 a0003c0003t0004g0140 a0003c0003t0004g0141 a0003c0003t0005g0157 a0003c0003t0005g0274 a0003c0003t0006g0164 a0003c0003t0006g0165 a0003c0003t0006g0166 a0003c0003t0006g0167 a0003c0003t0006g0182 a0003c0003t0006g0183 a0003c0003t0006g0184 a0003c0003t0006g0261 a0003c0003t0006g0271 a0003c0003t0006g0278 a0003c0003t0008g0228 a0003c0003t0008g0236 a0003c0003t0008g0238 a0003c0003t0013g0155 a0003c0003t0013g0156 a0003c0003t0016g0127 a0003c0003t0021g0146 a0003c0005t0004g0024 a0003c0005t0004g0029 a0003c0005t0012g0058 a0003c0032t0005g0272 a0011c0021t0002g0107 a0012c0018t0002g0084 a0014c0024t0005g0169	97	302	0.3212	-4	c.355 others(21): Show c.3557-811_3557-808delAAAA	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	16/20			chr13	TogoVar
ATP7B_chr13_51927669_52016450	51975372	GCTAA GCTAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02970.hp2 HG01891.hp1 HG02615.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0164 a0003c0003t0006g0165 a0003c0003t0006g0166 a0003c0003t0006g0164 a0003c0003t0006g0165 a0003c0003t0006g0166	3	302	0.0099	-4	c.52- others(17): Show c.52-208_52-205delTTAG	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	1/20			chr13	TogoVar
ATP7B_chr13_51927669_52016450	51978613	CTAGT CTAGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 HG03139.hp2 others(3): Show HG02258.hp1 HG03130.hp2 HG03139.hp2 HG03579.hp1 HG06807.hp2 NA19000.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0034	a0001c0001t0001 a0002c0002t0002 a0003c0003t0006 others(2): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0006 a0003c0003t0009 a0003c0034t0005	a0001c0001t0001g0277 a0002c0002t0002g0055 a0003c0003t0006g0278 others(3): Show a0001c0001t0001g0277 a0002c0002t0002g0055 a0003c0003t0006g0278 a0003c0003t0009g0248 a0003c0003t0009g0251 a0003c0034t0005g0279	6	302	0.0199	-4	c.52- others(19): Show c.52-3449_52-3446delACTA	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	1/20			chr13	TogoVar
ATP7B_chr13_51927669_52016450	51993582	AAAAC AAAAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02280.hp1 others(5): Show HG01106.hp2 HG01884.hp1 HG02280.hp1 HG02647.hp1 HG02896.hp2 HG03041.hp2 HG03130.hp1 NA18906.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0022 a0002c0002 a0013c0022	a0002c0002t0007 a0013c0022t0017 a0002c0002t0007 a0013c0022t0017	a0002c0002t0007g0039 a0002c0002t0007g0094 a0002c0002t0007g0095 others(5): Show a0002c0002t0007g0039 a0002c0002t0007g0094 a0002c0002t0007g0095 a0002c0002t0007g0096 a0002c0002t0007g0097 a0002c0002t0007g0098 a0002c0002t0007g0099 a0013c0022t0017g0034	8	302	0.0265	-4	c.51+ others(21): Show c.51+17701_51+17704delGTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	1/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42416782	CACTT CACTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01081.hp1 others(27): Show HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp1 HG01943.hp1 HG01952.hp1 HG02074.hp1 HG02280.hp1 HG02293.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18956.hp2 NA18978.hp2 NA18988.hp2 NA19030.hp1 NA19043.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(8): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0002t0008 a0001c0002t0009 a0001c0003t0008 a0001c0003t0009 a0006c0009t0008	a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0064 others(27): Show a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0064 a0001c0001t0008g0084 a0001c0001t0008g0093 a0001c0001t0008g0095 a0001c0001t0008g0100 a0001c0001t0008g0137 a0001c0001t0009g0205 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0009g0221 a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0278 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0033g0304 a0001c0001t0035g0244 a0001c0001t0036g0195 a0001c0002t0008g0166 a0001c0002t0008g0167 a0001c0002t0009g0185 a0001c0003t0008g0145 a0001c0003t0009g0287 a0006c0009t0008g0114	30	310	0.0968	-4	c.330 others(23): Show c.3306-2068_3306-2065delAAGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	35/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42433632	CCAAA CCAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG02559.hp1 others(12): Show HG01167.hp1 HG02145.hp2 HG02559.hp1 HG02615.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp2 NA18960.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0004 a0001c0002t0016 a0001c0002t0023 a0002c0005t0031	a0001c0001t0001g0073 a0001c0001t0004g0076 a0001c0001t0006g0248 others(12): Show a0001c0001t0001g0073 a0001c0001t0004g0076 a0001c0001t0006g0248 a0001c0001t0009g0205 a0001c0001t0009g0223 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0004g0035 a0001c0002t0016g0026 a0001c0002t0016g0032 a0001c0002t0023g0008 a0002c0005t0031g0307	15	310	0.0484	-4	c.312 others(23): Show c.3123+9929_3124-9928delTTTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	33/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448828	GTTTT GTTTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02897.hp2 others(8): Show HG02559.hp1 HG02647.hp2 HG02897.hp2 HG03098.hp2 HG03654.hp1 HG03927.hp1 HG04184.hp1 NA18943.hp1 NA18968.hp1 NA18994.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0025 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009	a0001c0001t0004g0031 a0001c0001t0005g0298 a0001c0001t0006g0210 others(8): Show a0001c0001t0004g0031 a0001c0001t0005g0298 a0001c0001t0006g0210 a0001c0001t0006g0235 a0001c0001t0006g0240 a0001c0001t0007g0070 a0001c0001t0007g0101 a0001c0001t0025g0010 a0001c0002t0002g0029 a0001c0002t0004g0024 a0001c0002t0009g0185	11	310	0.0355	-4	c.289 others(23): Show c.2897-2188_2897-2185delAAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42458865	TACAA TACAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01070.hp2 others(7): Show HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01496.hp1 HG01943.hp2 HG02293.hp1 HG03490.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0002g0098 a0001c0001t0002g0147 a0001c0001t0002g0148 others(7): Show a0001c0001t0002g0098 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0176 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0017g0080 a0001c0001t0017g0081	10	310	0.0323	-4	c.262 others(23): Show c.2620-3270_2620-3267delTTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	27/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42468430	TACAC TACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp1 others(96): Show HG00099.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0002c0007 a0003c0006 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0002t0004 a0001c0002t0005 a0001c0003t0005 a0001c0004t0003 a0001c0004t0004 a0001c0004t0010 a0002c0005t0004 a0002c0005t0031 a0002c0007t0001 a0003c0006t0001 a0003c0006t0005 a0004c0011t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(96): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0004g0031 a0001c0001t0004g0076 a0001c0001t0005g0186 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0265 a0001c0001t0005g0282 a0001c0001t0005g0309 a0001c0001t0006g0253 a0001c0001t0008g0017 a0001c0001t0010g0291 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0302 a0001c0001t0012g0303 a0001c0001t0012g0308 a0001c0001t0027g0023 a0001c0001t0028g0056 a0001c0001t0030g0126 a0001c0002t0004g0013 a0001c0002t0004g0018 a0001c0002t0004g0030 a0001c0002t0004g0109 a0001c0002t0004g0131 a0001c0002t0005g0189 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0227 a0001c0003t0005g0284 a0001c0004t0003g0297 a0001c0004t0004g0110 a0001c0004t0004g0134 a0001c0004t0004g0140 a0001c0004t0010g0285 a0001c0004t0010g0286 a0001c0004t0010g0295 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0133 a0003c0006t0001g0159 a0003c0006t0001g0160 a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0229 a0004c0011t0005g0228	99	310	0.3194	-4	c.232 others(23): Show c.2325-3358_2325-3355delGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42471631	TATAG TATAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02818.hp2 others(3): Show HG01099.hp2 HG02257.hp1 HG02818.hp2 HG02897.hp2 HG03041.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 a0001c0001 a0002c0005 a0002c0007	a0001c0001t0004 a0002c0005t0004 a0002c0005t0031 others(1): Show a0001c0001t0004 a0002c0005t0004 a0002c0005t0031 a0002c0007t0001	a0001c0001t0004g0031 a0002c0005t0004g0037 a0002c0005t0004g0041 others(3): Show a0001c0001t0004g0031 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0133	6	310	0.0194	-4	c.232 others(23): Show c.2325-6559_2325-6556delCTAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42472771	AAAAG AAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02818.hp2 others(3): Show HG01099.hp2 HG02257.hp1 HG02818.hp2 HG02897.hp2 HG03041.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 a0001c0001 a0002c0005 a0002c0007	a0001c0001t0004 a0002c0005t0004 a0002c0005t0031 others(1): Show a0001c0001t0004 a0002c0005t0004 a0002c0005t0031 a0002c0007t0001	a0001c0001t0004g0031 a0002c0005t0004g0037 a0002c0005t0004g0041 others(3): Show a0001c0001t0004g0031 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0133	6	310	0.0194	-4	c.232 others(23): Show c.2325-7699_2325-7696delCTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42511658	TGTAA TGTAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG02976.hp1 others(3): Show HG01167.hp1 HG02559.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 others(3): Show a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0004g0035	6	310	0.0194	-4	c.194 others(23): Show c.1948-4508_1948-4505delTTAC	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	22/36			chr4	TogoVar

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