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
ATP2C1_chr3_130889084_131008150	130941254	G G	GTGTGTGT others(3): Show GTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp2 HG01884.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0014 a0001c0001t0001g0017	2	382	0.0052	10	c.423 others(25): Show c.423-328_423-327insCTGTGTGTGT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130970369	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00621.hp1 others(14): Show HG00408.hp2 HG00609.hp1 HG00621.hp1 HG01981.hp2 HG02056.hp2 HG02486.hp2 NA18943.hp2 NA18964.hp2 NA18966.hp2 NA18978.hp2 NA18980.hp2 NA19002.hp1 NA19054.hp2 NA19058.hp2 NA19068.hp2 NA19082.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0001 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0211 others(14): Show a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0010g0112 a0001c0001t0011g0283	17	382	0.0445	10	c.141 others(29): Show c.1413+1002_1413+1011dupACACACACAC	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130970406	A A	ACACACAC others(3): Show ACACACACACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02055.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0113 a0001c0001t0001g0136	2	382	0.0052	10	c.141 others(29): Show c.1413+1011_1413+1012insACACACACCC	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84383735	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	432	0.0023	10	c.100 others(29): Show c.100-14758_100-14749dupGTGTGTGTGT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0012 a0001c0018t0002g0012	1	432	0.0023	10	c.100 others(25): Show c.100-835_100-826dupAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84412356	G G	GTGCGTGT others(3): Show GTGCGTGTGCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	432	0.0023	10	c.515 others(27): Show c.515+1593_515+1594insCGTGTGCATG	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84412356	G G	GTGTGTGT others(3): Show GTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(168): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0021 a0023 a0026	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0029 a0001c0030 a0001c0044 a0001c0066 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0016 a0002c0021 a0002c0023 a0002c0031 a0002c0054 a0003c0012 a0004c0013 a0004c0027 a0005c0017 a0006c0037 a0006c0060 a0007c0058 a0008c0024 a0009c0020 a0010c0040 a0011c0026 a0012c0033 a0012c0034 a0013c0057 a0015c0078 a0021c0073 a0023c0079 a0026c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0011t0001 a0001c0011t0002 a0001c0011t0003 a0001c0011t0015 a0001c0015t0001 a0001c0015t0003 a0001c0018t0002 a0001c0029t0002 a0001c0030t0001 a0001c0044t0002 a0001c0066t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0006t0001 a0002c0006t0012 a0002c0007t0001 a0002c0007t0003 a0002c0008t0001 a0002c0008t0002 a0002c0008t0003 a0002c0016t0002 a0002c0016t0005 a0002c0021t0001 a0002c0023t0001 a0002c0031t0002 a0002c0031t0003 a0002c0054t0001 a0003c0012t0001 a0004c0013t0001 a0004c0027t0001 a0005c0017t0001 a0005c0017t0014 a0006c0037t0001 a0006c0060t0001 a0007c0058t0002 a0008c0024t0001 a0009c0020t0001 a0010c0040t0004 a0011c0026t0001 a0012c0033t0002 a0012c0034t0001 a0013c0057t0001 a0015c0078t0001 a0021c0073t0001 a0023c0079t0002 a0026c0053t0002	a0001c0001t0001g0078 a0001c0001t0001g0313 a0001c0001t0001g0391 others(168): Show a0001c0001t0001g0078 a0001c0001t0001g0313 a0001c0001t0001g0391 a0001c0001t0001g0411 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0295 a0001c0001t0002g0307 a0001c0001t0002g0312 a0001c0001t0002g0332 a0001c0001t0002g0355 a0001c0001t0002g0372 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0226 a0001c0001t0003g0348 a0001c0002t0001g0053 a0001c0002t0001g0122 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0002g0068 a0001c0002t0002g0097 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0140 a0001c0002t0002g0148 a0001c0002t0002g0247 a0001c0002t0002g0265 a0001c0003t0001g0005 a0001c0003t0001g0011 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0055 a0001c0003t0001g0118 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0150 a0001c0003t0001g0274 a0001c0003t0001g0289 a0001c0003t0001g0300 a0001c0005t0001g0081 a0001c0005t0001g0100 a0001c0005t0001g0190 a0001c0005t0001g0206 a0001c0005t0001g0207 a0001c0005t0001g0327 a0001c0005t0001g0357 a0001c0005t0001g0402 a0001c0005t0001g0404 a0001c0005t0001g0421 a0001c0005t0002g0075 a0001c0005t0002g0392 a0001c0005t0006g0236 a0001c0009t0001g0020 a0001c0009t0001g0021 a0001c0009t0001g0052 a0001c0009t0001g0056 a0001c0009t0001g0125 a0001c0009t0001g0130 a0001c0009t0001g0147 a0001c0009t0001g0158 a0001c0009t0001g0163 a0001c0009t0001g0173 a0001c0009t0001g0178 a0001c0009t0001g0286 a0001c0010t0001g0057 a0001c0010t0001g0058 a0001c0010t0001g0059 a0001c0010t0002g0132 a0001c0010t0002g0135 a0001c0010t0002g0272 a0001c0010t0002g0277 a0001c0010t0002g0280 a0001c0010t0003g0146 a0001c0010t0003g0246 a0001c0010t0003g0251 a0001c0011t0001g0201 a0001c0011t0001g0396 a0001c0011t0002g0193 a0001c0011t0002g0194 a0001c0011t0002g0341 a0001c0011t0002g0417 a0001c0011t0003g0319 a0001c0011t0003g0320 a0001c0011t0015g0429 a0001c0015t0001g0088 a0001c0015t0001g0373 a0001c0015t0003g0384 a0001c0018t0002g0006 a0001c0029t0002g0388 a0001c0029t0002g0389 a0001c0030t0001g0242 a0001c0030t0001g0270 a0001c0044t0002g0363 a0001c0066t0002g0175 a0002c0004t0001g0094 a0002c0004t0001g0182 a0002c0004t0001g0188 a0002c0004t0001g0217 a0002c0004t0001g0218 a0002c0004t0001g0224 a0002c0004t0001g0393 a0002c0004t0001g0405 a0002c0004t0002g0356 a0002c0004t0002g0376 a0002c0004t0003g0381 a0002c0006t0001g0047 a0002c0006t0001g0060 a0002c0006t0001g0062 a0002c0006t0001g0102 a0002c0006t0001g0120 a0002c0006t0001g0121 a0002c0006t0001g0136 a0002c0006t0001g0157 a0002c0006t0001g0298 a0002c0006t0001g0299 a0002c0006t0012g0166 a0002c0007t0001g0008 a0002c0007t0001g0219 a0002c0007t0001g0326 a0002c0007t0001g0349 a0002c0007t0001g0408 a0002c0007t0001g0415 a0002c0007t0003g0196 a0002c0007t0003g0339 a0002c0007t0003g0360 a0002c0007t0003g0375 a0002c0008t0001g0126 a0002c0008t0001g0254 a0002c0008t0001g0260 a0002c0008t0001g0263 a0002c0008t0002g0110 a0002c0008t0003g0149 a0002c0016t0002g0305 a0002c0016t0002g0354 a0002c0016t0005g0203 a0002c0021t0001g0234 a0002c0021t0001g0235 a0002c0023t0001g0308 a0002c0023t0001g0382 a0002c0031t0002g0168 a0002c0031t0003g0131 a0002c0054t0001g0076 a0003c0012t0001g0314 a0004c0013t0001g0074 a0004c0013t0001g0077 a0004c0013t0001g0084 a0004c0013t0001g0390 a0004c0027t0001g0104 a0004c0027t0001g0245 a0005c0017t0001g0010 a0005c0017t0014g0035 a0006c0037t0001g0183 a0006c0060t0001g0013 a0007c0058t0002g0266 a0008c0024t0001g0025 a0008c0024t0001g0116 a0009c0020t0001g0087 a0009c0020t0001g0095 a0010c0040t0004g0386 a0011c0026t0001g0028 a0012c0033t0002g0072 a0012c0034t0001g0073 a0013c0057t0001g0285 a0015c0078t0001g0001 a0021c0073t0001g0301 a0023c0079t0002g0278 a0026c0053t0002g0213	171	432	0.3958	10	c.515 others(27): Show c.515+1597_515+1598insTGCATGTGTG	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84444162	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0032 a0005c0017t0001g0032	1	432	0.0023	10	c.140 others(29): Show c.1401+1576_1401+1585dupAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84461211	A A	AGGGAGCT others(3): Show AGGGAGCTCTG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	432	0.0023	10	c.248 others(27): Show c.2481+419_2481+420insGGGGAGCTCT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5F1A_chr18_46075248_46103296	46092617	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0201 a0001c0001t0018g0201	1	390	0.0026	10	c.140 others(25): Show c.140-776_140-767dupTATATATATA	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11			chr18	TogoVar
ATP5F1A_chr18_46075248_46103296	46094186	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 NA18939.hp2 others(4): Show HG01891.hp1 HG02486.hp2 NA18939.hp2 NA18954.hp2 NA18966.hp2 NA19004.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0076 a0001c0001t0080	a0001c0001t0002g0033 a0001c0001t0002g0160 a0001c0001t0008g0151 others(3): Show a0001c0001t0002g0033 a0001c0001t0002g0160 a0001c0001t0008g0151 a0001c0001t0019g0261 a0001c0001t0076g0186 a0001c0001t0080g0226	7	390	0.0180	10	c.139 others(25): Show c.139+866_139+867insATGTGTGTGT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11			chr18	TogoVar
ATP5F1A_chr18_46075248_46103296	46096500	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0256 a0001c0001t0112g0256	1	390	0.0026	10	c.61- others(25): Show c.61-1379_61-1370dupTTTTTTTTTT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	1/11			chr18	TogoVar
ATP5F1A_chr18_46075248_46103296	46096982	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0227 a0001c0001t0039g0227	1	390	0.0026	10	c.60+ others(25): Show c.60+1180_60+1189dupTTTTTTTTTT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	1/11			chr18	TogoVar
ATP5F1B_chr12_56633175_56650984	56648441	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 NA21309.hp2 HG02818.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0006 a0001c0001t0001g0012	2	390	0.0051	10	c.-24 others(21): Show c.-2479_-2478insTTTTTTTTTT	ATP5F1B	ENSG00000110955.9	transcript	ENST00000262030.8	protein_coding		2458		chr12	TogoVar
ATP5F1B_chr12_56633175_56650984	56648449	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 NA18962.hp2 HG01074.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	390	0.0051	10	c.-24 others(21): Show c.-2487_-2486insCTTTTTTTTT	ATP5F1B	ENSG00000110955.9	transcript	ENST00000262030.8	protein_coding		2466		chr12	TogoVar
ATP5F1D_chr19_1236751_1249825	1246820	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	10	c.23 others(21): Show c.2383_*2384insTTTTTTTTTT	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		1996		chr19	TogoVar
ATP5MC1_chr17_48887787_48900871	48890144	A A	AAAAAGAA others(3): Show AAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01167.hp1 HG01169.hp2 others(14): Show HG00558.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG02451.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18977.hp1 NA18984.hp1 NA19011.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003	17	334	0.0509	10	c.-27 others(21): Show c.-2776_-2775insAAAAGAAAAG	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		2642		chr17	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	334	0.0030	10	c.32 others(21): Show c.3298_*3299insAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53667954	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp2 HG03831.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	418	0.0048	10	c.311 others(27): Show c.311+1193_311+1194insATATATATAT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACACATA others(3): Show CACACATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	418	0.0024	10	c.311 others(27): Show c.311+1191_311+1192insATATATGTGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACATATA others(3): Show CACATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02040.hp1 HG02145.hp1 others(5): Show HG01358.hp1 HG02040.hp1 HG02145.hp1 HG03579.hp1 NA18944.hp2 NA18959.hp2 NA18998.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0139 a0001c0001t0001g0155 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0197 a0001c0001t0001g0222	8	418	0.0191	10	c.311 others(27): Show c.311+1191_311+1192insATATATATGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp1 HG04115.hp1 HG00639.hp1 HG02615.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0229 a0001c0001t0001g0063 a0001c0001t0001g0229	3	418	0.0072	10	c.311 others(27): Show c.311+1182_311+1191dupATATATATAT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667998	T T	TATATATA others(3): Show TATATATATAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	418	0.0024	10	c.311 others(27): Show c.311+1149_311+1150insTTATATATAT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 HG02717.hp2 others(4): Show HG01175.hp1 HG01361.hp1 HG02717.hp2 NA18954.hp2 NA18970.hp1 NA18987.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0119 a0001c0001t0001g0203 a0001c0001t0001g0010 a0001c0001t0001g0119 a0001c0001t0001g0203	7	418	0.0168	10	c.39+ others(23): Show c.39+483_39+492dupTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679235	A A	AACAGAGA others(3): Show AACAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	418	0.0024	10	c.-32 others(21): Show c.-3215_-3214insCTCTCTCTGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		3153		chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679238	C C	CGAGAGAG others(3): Show CGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03654.hp1 NA18906.hp2 others(4): Show HG02602.hp1 HG03654.hp1 NA18906.hp2 NA18939.hp2 NA18969.hp1 NA18979.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0153 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0153 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0235 a0001c0001t0001g0242	7	418	0.0168	10	c.-32 others(21): Show c.-3218_-3217insTCTCTCTCTC	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		3156		chr12	TogoVar
ATP5MJ_chr14_103907288_103926529	103908165	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01069.hp2 others(18): Show HG00558.hp2 HG00621.hp1 HG01069.hp2 HG01074.hp2 HG01167.hp1 HG01261.hp2 HG02280.hp2 HG02293.hp1 HG02970.hp1 HG03927.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18984.hp1 NA18991.hp2 NA19009.hp2 NA19070.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0002g0016 others(12): Show a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0065 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0043 a0002c0002t0001g0082 a0002c0002t0001g0102 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182	21	440	0.0477	10	c.45 others(21): Show c.4500_*4501insTTTTTTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		4122		chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914837	C C	CAAAAAGA others(3): Show CAAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp2 NA20300.hp2 HG02486.hp1 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0006g0050 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0006g0050	3	440	0.0068	10	c.124 others(25): Show c.124+228_124+229insTTTTCTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103916329	G G	GATGCCCT others(3): Show GATGCCCTCAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	440	0.0023	10	c.1-1 others(23): Show c.1-1150_1-1141dupATGAGGGCAT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	1/3			chr14	TogoVar
ATP5PF_chr21_25719500_25739904	25730736	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01175.hp2 others(5): Show HG00741.hp2 HG01081.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG02145.hp2 NA19064.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0096 a0001c0001t0001g0129	8	416	0.0192	10	c.-7- others(23): Show c.-7-945_-7-936dupTTTTTTTTTT	ATP5PF	ENSG00000154723.13	transcript	ENST00000284971.8	protein_coding	1/3			chr21	TogoVar
ATP5PO_chr21_33898453_33920804	33905918	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(41): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00609.hp1 HG00741.hp1 HG01192.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp1 HG02015.hp2 HG02055.hp2 HG02074.hp2 HG02129.hp1 HG02258.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG03098.hp1 HG03453.hp1 HG03490.hp2 HG03688.hp2 HG03704.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18978.hp2 NA18986.hp2 NA18988.hp1 NA19004.hp2 NA19060.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0031 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0006t0001g0134	44	436	0.1009	10	c.441 others(27): Show c.441+1413_441+1422dupTTTTTTTTTT	ATP5PO	ENSG00000241837.7	transcript	ENST00000290299.7	protein_coding	5/6			chr21	TogoVar
ATP6AP2_chrX_40575970_40611848	40602913	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	299	0.0033	10	c.858 others(27): Show c.858+2051_858+2060dupTTTTTTTTTT	ATP6AP2	ENSG00000182220.15	transcript	ENST00000636580.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP6V0A1_chr17_42453878_42527579	42485539	G G	GTTTGTTT others(3): Show GTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0147	1	320	0.0031	10	c.811 others(27): Show c.811-1592_811-1583dupGTTTTGTTTT	ATP6V0A1	ENSG00000033627.18	transcript	ENST00000343619.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(3): Show TCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0035 a0007c0014t0035	a0007c0014t0035g0146 a0007c0014t0035g0146	1	222	0.0045	10	c.-51 others(19): Show c.-511_-510insCACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712059	T T	TCACACAC others(3): Show TCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG03209.hp2 HG01884.hp1 HG02630.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0037 a0001c0003t0010 a0001c0001t0037 a0001c0003t0010	a0001c0001t0037g0128 a0001c0003t0010g0018 a0001c0003t0010g0131 a0001c0001t0037g0128 a0001c0003t0010g0018 a0001c0003t0010g0131	3	222	0.0135	10	c.-50 others(19): Show c.-507_-506insCACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		293		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712061	T T	TCACACAC others(3): Show TCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01346.hp1 HG01978.hp2 others(11): Show HG01099.hp2 HG01346.hp1 HG01978.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG03098.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0009 a0001c0003t0001 a0001c0005t0012 others(1): Show a0001c0001t0009 a0001c0003t0001 a0001c0005t0012 a0002c0004t0006	a0001c0001t0009g0121 a0001c0003t0001g0187 a0001c0003t0001g0188 others(8): Show a0001c0001t0009g0121 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0005t0012g0118 a0001c0005t0012g0119 a0001c0005t0012g0120 a0002c0004t0006g0005 a0002c0004t0006g0017 a0002c0004t0006g0186	14	222	0.0631	10	c.-50 others(19): Show c.-505_-504insCACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		291		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123721190	G G	GTGTTTTG others(3): Show GTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp1 HG01978.hp2 others(13): Show HG01175.hp1 HG01346.hp1 HG01978.hp2 HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA19086.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0011 a0002c0004 others(1): Show a0001c0001 a0001c0011 a0002c0004 a0009c0009	a0001c0001t0001 a0001c0011t0008 a0002c0004t0006 others(2): Show a0001c0001t0001 a0001c0011t0008 a0002c0004t0006 a0002c0004t0007 a0009c0009t0008	a0001c0001t0001g0030 a0001c0001t0001g0099 a0001c0001t0001g0100 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0011t0008g0101 a0002c0004t0006g0005 a0002c0004t0006g0017 a0002c0004t0006g0186 a0002c0004t0007g0178 a0002c0004t0007g0179 a0002c0004t0007g0180 a0002c0004t0007g0181 a0002c0004t0007g0182 a0009c0009t0008g0105	16	222	0.0721	10	c.197 others(27): Show c.197-1139_197-1130dupGTTTTGTTTT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123732532	G G	GCTGGCCT others(3): Show GCTGGCCTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG03942.hp2 others(1): Show HG01109.hp2 HG01256.hp2 HG03942.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 others(1): Show a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125	4	222	0.0180	10	c.649 others(27): Show c.649-1392_649-1383dupTGGCCTCCTC	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123765562	C C	CTATCTAT others(3): Show CTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0088 a0001c0001t0001g0094	2	222	0.0090	10	c.75 others(21): Show c.7530_*7531insTATCTATCTA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		3808		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138706889	A A	AATTTTTT others(3): Show AATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0006 a0002c0049t0006	a0002c0049t0006g0044 a0002c0049t0006g0044	1	376	0.0027	10	c.243 others(27): Show c.2430-173_2430-172insAAAAAAAAAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707068	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02258.hp2 HG02922.hp1 others(4): Show HG01261.hp1 HG02258.hp2 HG02922.hp1 HG03041.hp1 NA18906.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0014 a0002c0002 others(2): Show a0001c0001 a0001c0014 a0002c0002 a0002c0038 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0002t0001 a0002c0038t0001 a0005c0006t0005	a0001c0001t0001g0010 a0001c0001t0002g0182 a0001c0014t0001g0094 others(4): Show a0001c0001t0001g0010 a0001c0001t0002g0182 a0001c0014t0001g0094 a0002c0002t0001g0108 a0002c0002t0001g0312 a0002c0038t0001g0045 a0005c0006t0005g0069	7	376	0.0186	10	c.243 others(27): Show c.2430-361_2430-352dupCACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718201	G G	GGGGTGTG others(3): Show GGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	376	0.0027	10	c.214 others(29): Show c.2140-2321_2140-2320insACACACACCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718201	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01261.hp1 others(16): Show HG01081.hp2 HG01106.hp2 HG01261.hp1 HG01515.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp2 HG03516.hp2 NA18950.hp1 NA18957.hp1 NA18991.hp2 NA19006.hp1 NA19043.hp1 NA19077.hp2 NA19079.hp2 NA19090.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0010 others(3): Show a0001c0001 a0001c0008 a0001c0010 a0002c0002 a0002c0003 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0008t0001 a0001c0010t0002 a0002c0002t0001 a0002c0002t0004 a0002c0003t0001 a0002c0016t0001	a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0134 others(16): Show a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0002g0030 a0001c0001t0002g0182 a0001c0001t0014g0376 a0001c0008t0001g0234 a0001c0008t0001g0235 a0001c0010t0002g0362 a0002c0002t0001g0073 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0133 a0002c0002t0001g0189 a0002c0002t0004g0116 a0002c0003t0001g0190 a0002c0016t0001g0017	19	376	0.0505	10	c.214 others(29): Show c.2140-2330_2140-2321dupACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718282	G G	GCAGTCAC others(3): Show GCAGTCACGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02818.hp1 others(5): Show HG02280.hp2 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG03453.hp1 HG03579.hp2 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0001c0014 others(3): Show a0001c0001 a0001c0005 a0001c0014 a0003c0036 a0004c0018 a0004c0041	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0014t0004 a0003c0036t0001 a0004c0018t0002 a0004c0041t0004	a0001c0001t0001g0027 a0001c0005t0001g0032 a0001c0005t0004g0356 others(5): Show a0001c0001t0001g0027 a0001c0005t0001g0032 a0001c0005t0004g0356 a0001c0005t0005g0067 a0001c0014t0004g0095 a0003c0036t0001g0046 a0004c0018t0002g0096 a0004c0041t0004g0006	8	376	0.0213	10	c.214 others(29): Show c.2140-2402_2140-2401insTCCGTGACTG	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718572	A A	AGAGGCAT others(3): Show AGAGGCATGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01167.hp1 others(6): Show HG00738.hp2 HG00741.hp2 HG01167.hp1 HG01346.hp1 HG01496.hp1 HG02451.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0098 a0001c0001t0001g0151 a0001c0001t0001g0219 others(6): Show a0001c0001t0001g0098 a0001c0001t0001g0151 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0249 a0001c0001t0001g0337 a0001c0001t0002g0241 a0002c0003t0001g0150 a0002c0003t0003g0148	9	376	0.0239	10	c.214 others(29): Show c.2140-2701_2140-2692dupCCCATGCCTC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718577	C C	CATGGGGA others(3): Show CATGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(155): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0012 a0014	a0001c0001 a0001c0005 a0001c0007 others(27): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0023 a0001c0030 a0002c0002 a0002c0003 a0002c0012 a0002c0016 a0002c0019 a0002c0027 a0002c0049 a0003c0004 a0003c0031 a0003c0033 a0003c0036 a0003c0037 a0004c0011 a0004c0015 a0004c0041 a0005c0006 a0005c0034 a0006c0009 a0007c0026 a0011c0028 a0012c0039 a0014c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0007t0001 a0001c0008t0001 a0001c0008t0002 a0001c0010t0002 a0001c0010t0004 a0001c0013t0001 a0001c0023t0001 a0001c0030t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0003t0001 a0002c0003t0002 a0002c0012t0001 a0002c0012t0004 a0002c0016t0001 a0002c0019t0004 a0002c0027t0001 a0002c0049t0006 a0003c0004t0001 a0003c0004t0008 a0003c0004t0011 a0003c0031t0006 a0003c0033t0004 a0003c0036t0001 a0003c0037t0009 a0004c0011t0001 a0004c0015t0001 a0004c0041t0004 a0005c0006t0001 a0005c0006t0005 a0005c0034t0001 a0006c0009t0001 a0007c0026t0001 a0011c0028t0001 a0012c0039t0001 a0014c0047t0001	a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0040 others(155): Show a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0330 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0002g0030 a0001c0001t0002g0154 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0297 a0001c0001t0003g0138 a0001c0001t0004g0352 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0008g0061 a0001c0001t0013g0372 a0001c0005t0001g0348 a0001c0005t0002g0043 a0001c0005t0004g0177 a0001c0007t0001g0144 a0001c0007t0001g0318 a0001c0007t0001g0333 a0001c0008t0001g0118 a0001c0008t0001g0129 a0001c0008t0001g0155 a0001c0008t0001g0234 a0001c0008t0001g0235 a0001c0008t0002g0100 a0001c0010t0002g0035 a0001c0010t0002g0362 a0001c0010t0004g0171 a0001c0013t0001g0103 a0001c0013t0001g0206 a0001c0013t0001g0366 a0001c0023t0001g0336 a0001c0023t0001g0350 a0001c0030t0001g0204 a0002c0002t0001g0001 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0073 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0133 a0002c0002t0001g0141 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0208 a0002c0002t0001g0238 a0002c0002t0001g0247 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0307 a0002c0002t0002g0082 a0002c0002t0003g0239 a0002c0002t0004g0116 a0002c0003t0001g0066 a0002c0003t0001g0166 a0002c0003t0001g0190 a0002c0003t0001g0287 a0002c0003t0001g0316 a0002c0003t0002g0065 a0002c0012t0001g0081 a0002c0012t0001g0089 a0002c0012t0004g0346 a0002c0016t0001g0016 a0002c0016t0001g0017 a0002c0019t0004g0107 a0002c0027t0001g0005 a0002c0027t0001g0049 a0002c0049t0006g0044 a0003c0004t0001g0105 a0003c0004t0001g0207 a0003c0004t0001g0212 a0003c0004t0001g0341 a0003c0004t0008g0068 a0003c0004t0011g0371 a0003c0031t0006g0344 a0003c0033t0004g0364 a0003c0036t0001g0046 a0003c0037t0009g0345 a0004c0011t0001g0060 a0004c0015t0001g0183 a0004c0015t0001g0358 a0004c0041t0004g0006 a0005c0006t0001g0015 a0005c0006t0001g0031 a0005c0006t0001g0053 a0005c0006t0001g0268 a0005c0006t0001g0276 a0005c0006t0005g0069 a0005c0034t0001g0008 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0224 a0006c0009t0001g0258 a0006c0009t0001g0281 a0007c0026t0001g0003 a0007c0026t0001g0013 a0011c0028t0001g0059 a0012c0039t0001g0117 a0014c0047t0001g0257	158	376	0.4202	10	c.214 others(29): Show c.2140-2697_2140-2696insTCCTCCCCAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718584	C C	CGGAATGG others(3): Show CGGAATGGGGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	376	0.0027	10	c.214 others(29): Show c.2140-2713_2140-2704dupTCCCCATTCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138726680	C C	CGGTCTTG others(3): Show CGGTCTTGAAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	376	0.0027	10	c.201 others(29): Show c.2010+2080_2010+2081insATTCAAGACC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	18/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138730341	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03490.hp1 HG04199.hp2 others(1): Show HG02132.hp1 HG03490.hp1 HG04199.hp2 NA18969.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0011 a0004c0015 a0003c0004 a0004c0011 a0004c0015	a0003c0004t0001 a0004c0011t0001 a0004c0015t0001 a0003c0004t0001 a0004c0011t0001 a0004c0015t0001	a0003c0004t0001g0207 a0003c0004t0001g0212 a0004c0011t0001g0163 others(1): Show a0003c0004t0001g0207 a0003c0004t0001g0212 a0004c0011t0001g0163 a0004c0015t0001g0002	4	376	0.0106	10	c.190 others(29): Show c.1909-1489_1909-1480dupACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	17/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745960	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0350 a0001c0023t0001g0350	1	376	0.0027	10	c.132 others(27): Show c.1321-681_1321-680insATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar

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