Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP5PF_chr21_25719500_25739904	25730736	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(30): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG01123.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01928.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02622.hp2 HG02818.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18978.hp1 NA18990.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19062.hp2 NA19072.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150	33	53	0.6226	-15	c.-7- others(28): Show c.-7-950_-7-936delTTTTTTTTTTTTTTT	ATP5PF	ENSG00000154723.13	transcript	ENST00000284971.8	protein_coding	1/3			chr21	TogoVar
ATP6V0C_chr16_2508952_2525218	2516352	TCCACCTG others(8): Show TCCACCTGCTTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	334	0.0030	-15	c.79+ others(30): Show c.79+2171_79+2185delCCACCTGCTTCTGCC	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding	1/2			chr16	TogoVar
ATP6V0C_chr16_2508952_2525218	2520549	CGGGCCGG others(8): Show CGGGCCGGGGACTGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	334	0.0030	-15	c.80 others(24): Show c.805_*819delGGGCCGGGGACTGCG	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding		332		chr16	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145374	GAAAGAAA others(8): Show GAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	82	0.0122	-15	c.639 others(32): Show c.639+2451_639+2465delAAAGAAAAGAAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10754542	ATTTTCTT others(8): Show ATTTTCTTTTCTTTTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(253): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0006 a0001c0015 others(11): Show a0001c0001 a0001c0006 a0001c0015 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0018 a0003c0008 a0003c0010 a0004c0011 a0005c0012 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0006t0005 a0001c0015t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0004t0005 a0002c0005t0001 a0002c0005t0003 a0002c0005t0008 a0002c0009t0022 a0002c0018t0013 a0003c0008t0003 a0003c0010t0002 a0004c0011t0017 a0005c0012t0003 a0006c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(251): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0279 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0322 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0331 a0001c0001t0002g0338 a0001c0001t0002g0343 a0001c0001t0002g0348 a0001c0001t0004g0097 a0001c0001t0004g0114 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0001t0006g0308 a0001c0001t0007g0237 a0001c0001t0008g0245 a0001c0001t0008g0259 a0001c0001t0011g0080 a0001c0001t0011g0342 a0001c0001t0013g0074 a0001c0001t0016g0220 a0001c0001t0020g0056 a0001c0001t0026g0100 a0001c0006t0005g0038 a0001c0006t0005g0321 a0001c0006t0005g0323 a0001c0015t0006g0247 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0072 a0002c0002t0001g0096 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0150 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0187 a0002c0002t0001g0225 a0002c0002t0001g0228 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0281 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0002t0001g0303 a0002c0002t0001g0317 a0002c0002t0001g0326 a0002c0002t0002g0018 a0002c0002t0002g0035 a0002c0002t0002g0098 a0002c0002t0002g0147 a0002c0002t0003g0214 a0002c0002t0003g0243 a0002c0002t0003g0246 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0258 a0002c0002t0004g0117 a0002c0002t0004g0123 a0002c0002t0004g0215 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0006g0229 a0002c0002t0006g0230 a0002c0002t0006g0240 a0002c0002t0006g0241 a0002c0002t0007g0134 a0002c0002t0007g0234 a0002c0002t0008g0236 a0002c0002t0008g0244 a0002c0002t0010g0108 a0002c0002t0014g0222 a0002c0002t0015g0221 a0002c0002t0018g0077 a0002c0002t0019g0050 a0002c0002t0023g0099 a0002c0002t0024g0226 a0002c0002t0025g0227 a0002c0003t0002g0063 a0002c0003t0002g0067 a0002c0003t0002g0086 a0002c0003t0002g0093 a0002c0003t0002g0119 a0002c0003t0002g0121 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0129 a0002c0003t0002g0142 a0002c0003t0002g0148 a0002c0003t0002g0273 a0002c0003t0002g0277 a0002c0003t0002g0327 a0002c0003t0004g0058 a0002c0003t0004g0073 a0002c0003t0004g0076 a0002c0003t0004g0125 a0002c0003t0004g0138 a0002c0003t0004g0152 a0002c0003t0012g0160 a0002c0003t0012g0232 a0002c0004t0005g0045 a0002c0004t0005g0046 a0002c0004t0005g0085 a0002c0004t0005g0095 a0002c0004t0005g0109 a0002c0004t0005g0137 a0002c0004t0005g0141 a0002c0004t0005g0143 a0002c0004t0005g0162 a0002c0004t0005g0177 a0002c0004t0005g0286 a0002c0004t0005g0311 a0002c0005t0001g0116 a0002c0005t0003g0154 a0002c0005t0003g0159 a0002c0005t0008g0158 a0002c0009t0022g0155 a0002c0018t0013g0217 a0003c0008t0003g0122 a0003c0008t0003g0146 a0003c0010t0002g0260 a0004c0011t0017g0149 a0005c0012t0003g0233 a0006c0017t0001g0216	256	263	0.9734	-15	c.283 others(30): Show c.283+506_283+520delCTTTTCTTTTCTTTT	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631692	ATATATAT others(8): Show ATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	340	0.0029	-15	c.-30 others(26): Show c.-3072_-3058delATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2944		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631704	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	352	0.0028	-15	c.-30 others(26): Show c.-3084_-3070delAAAAAAAAAAAAATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2956		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18972.hp2 HG03041.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0200 a0001c0001t0004g0215 a0001c0001t0003g0200 a0001c0001t0004g0215	2	186	0.0108	-15	c.-30 others(26): Show c.-3086_-3072delAAAAAAAAAAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1F_chr7_128857856_128870847	128858990	AAAGGAAA others(8): Show AAAGGAAAGCACAATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	-15	c.-39 others(26): Show c.-3914_-3900delAAGGAAAGCACAATC	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		3865		chr7	TogoVar
ATP6V1G2_chr6_31539444_31551608	31540701	GAGCACAG others(8): Show GAGCACAGCCTTCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01074.hp2 HG01099.hp2 others(21): Show HG00423.hp2 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02886.hp2 HG03139.hp2 HG03225.hp2 HG03516.hp1 HG03834.hp2 HG06807.hp2 NA18948.hp1 NA19066.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0016	24	434	0.0553	-15	c.46 others(26): Show c.4692_*4706delGGTGAAGGCTGTGCT	ATP6V1G2	ENSG00000213760.11	transcript	ENST00000303892.10	protein_coding		3742		chr6	TogoVar
ATP6V1H_chr8_53710543_53848245	53737231	AGTGCACT others(8): Show AGTGCACTGAAATTGT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0133 a0001c0001t0002g0155 a0001c0001t0002g0164	3	284	0.0106	-15	c.139 others(34): Show c.1391+6331_1391+6345delACAATTTCAGTGCAC	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	13/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755723	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	281	0.0036	-15	c.127 others(32): Show c.1277+817_1277+831delTATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755727	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	282	0.0035	-15	c.127 others(32): Show c.1277+813_1277+827delTATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765451	AACAACAC others(8): Show AACAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0263 a0001c0001t0004g0264	2	210	0.0095	-15	c.117 others(34): Show c.1175+4152_1175+4166delGTGTGTGTGTGTTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765457	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02965.hp2 others(2): Show HG02559.hp1 HG02818.hp2 HG02965.hp2 HG03225.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(2): Show a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163	5	271	0.0185	-15	c.117 others(34): Show c.1175+4146_1175+4160delGTGTGTGTGTGTGTG	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77956726	CCTTTCTT others(8): Show CCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0021 a0001c0001t0010g0021	1	45	0.0222	-15	c.-21 others(34): Show c.-21-14894_-21-14880delCTTTCTTTCTTTCTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22			chrX	TogoVar
ATP8A1_chr4_42403373_42662105	42500365	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG03139.hp2 others(2): Show HG02145.hp2 HG02615.hp1 HG03139.hp2 HG03540.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0002t0016 others(1): Show a0001c0001t0006 a0001c0002t0005 a0001c0002t0016 a0001c0002t0023	a0001c0001t0006g0192 a0001c0002t0005g0191 a0001c0002t0016g0019 others(2): Show a0001c0001t0006g0192 a0001c0002t0005g0191 a0001c0002t0016g0019 a0001c0002t0016g0026 a0001c0002t0023g0006	5	149	0.0336	-15	c.215 others(34): Show c.2151+3070_2151+3084delGTTTTGTTTTGTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	24/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42507729	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01255.hp2 HG02559.hp1 others(5): Show HG01167.hp1 HG01255.hp2 HG02559.hp1 HG02723.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0026 a0001c0002t0004 a0001c0002t0026	a0001c0002t0004g0024 a0001c0002t0004g0030 a0001c0002t0004g0031 others(5): Show a0001c0002t0004g0024 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0026g0012	8	58	0.1379	-15	c.194 others(32): Show c.1948-590_1948-576delTTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	22/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25429371	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	62	0.0161	-15	c.77- others(32): Show c.77-39591_77-39577delAAAAAAAAAAAAAAA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531393	TATGATTA others(8): Show TATGATTATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0019 a0001c0020t0019	a0001c0020t0019g0067 a0001c0020t0019g0067	1	120	0.0083	-15	c.420 others(30): Show c.420+736_420+750delGATTATATATATGAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25623883	TATGCATA others(8): Show TATGCATATATCTATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0091 a0001c0001t0030g0091	1	120	0.0083	-15	c.221 others(36): Show c.2211+34191_2211+34205delATATCTATAATGCAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25637092	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02895.hp2 HG03579.hp1 others(1): Show HG02015.hp2 HG02895.hp2 HG03579.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0006t0020	a0001c0002t0001g0032 a0001c0002t0002g0037 a0001c0002t0006g0119 others(1): Show a0001c0002t0001g0032 a0001c0002t0002g0037 a0001c0002t0006g0119 a0001c0006t0020g0085	4	11	0.3636	-15	c.221 others(36): Show c.2211+47408_2211+47422delAAAAAAAAAAAAAAA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25793025	GGAGAAGA others(8): Show GGAGAAGAGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03486.hp2 HG00738.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0060 a0001c0003t0008 a0001c0003t0060	a0001c0003t0008g0010 a0001c0003t0060g0115 a0001c0003t0008g0010 a0001c0003t0060g0115	2	120	0.0167	-15	c.267 others(36): Show c.2679+18076_2679+18090delGGAGAAGAGAAGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25813382	TATATGAT others(8): Show TATATGATATGATATG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG03041.hp1 others(7): Show HG02615.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 others(4): Show a0001c0001 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0018	a0001c0001t0010 a0001c0001t0048 a0001c0001t0072 others(7): Show a0001c0001t0010 a0001c0001t0048 a0001c0001t0072 a0001c0007t0001 a0001c0008t0033 a0001c0009t0038 a0001c0010t0012 a0001c0010t0056 a0001c0015t0008 a0001c0018t0024	a0001c0001t0010g0100 a0001c0001t0048g0122 a0001c0001t0072g0027 others(7): Show a0001c0001t0010g0100 a0001c0001t0048g0122 a0001c0001t0072g0027 a0001c0007t0001g0081 a0001c0008t0033g0075 a0001c0009t0038g0112 a0001c0010t0012g0090 a0001c0010t0056g0002 a0001c0015t0008g0015 a0001c0018t0024g0066	10	46	0.2174	-15	c.268 others(36): Show c.2680-14711_2680-14697delGATATGATATGATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25882894	AGATGATG others(8): Show AGATGATGATGATGAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01243.hp1 others(11): Show HG00642.hp2 HG01175.hp1 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG02015.hp2 HG02273.hp1 HG02280.hp2 HG02630.hp2 HG03225.hp1 HG03486.hp1 NA18952.hp1 NA19004.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011	a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0003t0007 a0001c0003t0065 a0001c0003t0073 a0001c0004t0003 a0001c0004t0068 a0001c0005t0044 a0001c0011t0017	a0001c0001t0002g0079 a0001c0001t0005g0102 a0001c0001t0016g0104 others(11): Show a0001c0001t0002g0079 a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0051g0053 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0002g0037 a0001c0003t0007g0109 a0001c0003t0065g0033 a0001c0003t0073g0001 a0001c0004t0003g0007 a0001c0004t0068g0071 a0001c0005t0044g0018 a0001c0011t0017g0121	14	50	0.2800	-15	c.318 others(36): Show c.3183+20518_3183+20532delATGATGATGATGATG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25907363	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01081.hp1 others(36): Show HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18952.hp2 NA18977.hp1 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0018 a0001c0019 a0001c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(35): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0035 a0001c0001t0040 a0001c0001t0053 a0001c0001t0059 a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0002t0032 a0001c0002t0063 a0001c0002t0070 a0001c0002t0071 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0018 a0001c0003t0027 a0001c0003t0062 a0001c0004t0005 a0001c0006t0006 a0001c0006t0020 a0001c0007t0005 a0001c0008t0013 a0001c0014t0034 a0001c0018t0024 a0001c0019t0007 a0001c0020t0019	a0001c0001t0003g0093 a0001c0001t0004g0046 a0001c0001t0008g0073 others(36): Show a0001c0001t0003g0093 a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0009g0065 a0001c0001t0013g0006 a0001c0001t0016g0104 a0001c0001t0025g0009 a0001c0001t0026g0089 a0001c0001t0035g0043 a0001c0001t0040g0038 a0001c0001t0053g0114 a0001c0001t0059g0022 a0001c0002t0003g0087 a0001c0002t0003g0120 a0001c0002t0006g0119 a0001c0002t0016g0011 a0001c0002t0032g0023 a0001c0002t0063g0050 a0001c0002t0070g0068 a0001c0002t0071g0096 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 a0001c0003t0008g0010 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0003t0062g0024 a0001c0004t0005g0088 a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0007t0005g0021 a0001c0008t0013g0074 a0001c0014t0034g0064 a0001c0018t0024g0066 a0001c0019t0007g0028 a0001c0020t0019g0067	39	120	0.3250	-15	c.318 others(36): Show c.3183+44970_3183+44984delTAAAATAAAATAAAA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57672884	AAGTATAT others(8): Show AAGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03041.hp1 HG01515.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0302 a0001c0001t0008g0051 a0001c0001t0007g0302 a0001c0001t0008g0051	2	261	0.0077	-15	c.182 others(34): Show c.1820-1319_1820-1305delATATATATATATACT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57687773	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18939.hp1 NA18939.hp2 others(7): Show HG02080.hp1 NA18939.hp1 NA18939.hp2 NA18974.hp2 NA18980.hp1 NA18991.hp2 NA19012.hp1 NA19054.hp1 NA19062.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037	a0002c0002t0014g0207 a0002c0002t0014g0229 a0002c0002t0014g0236 others(7): Show a0002c0002t0014g0207 a0002c0002t0014g0229 a0002c0002t0014g0236 a0002c0002t0014g0266 a0002c0002t0014g0274 a0002c0002t0014g0293 a0002c0002t0019g0038 a0002c0002t0019g0048 a0002c0002t0019g0137 a0002c0002t0037g0175	10	86	0.1163	-15	c.142 others(32): Show c.1429+511_1429+525delAAAAAAAAAAAAAAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	13/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57690021	AAAACAAA others(8): Show AAAACAAACAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02280.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0290 a0001c0001t0028g0308 a0001c0001t0002g0290 a0001c0001t0028g0308	2	312	0.0064	-15	c.122 others(34): Show c.1221-1529_1221-1515delGTTGTTTGTTTGTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	12/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57746467	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0312 a0001c0001t0048g0312	1	215	0.0047	-15	c.-25 others(34): Show c.-25-14650_-25-14636delAAAAAAAAAAAAAAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1787728	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0014 a0014	a0014c0071 a0014c0071	a0014c0071t0007 a0014c0071t0007	a0014c0071t0007g0170 a0014c0071t0007g0170	1	20	0.0500	-15	c.307 others(32): Show c.3070-557_3070-543delTTTTTTTTTTTTTTT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	24/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50098266	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00642.hp2 others(25): Show HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02602.hp1 HG02738.hp1 HG02738.hp2 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0003c0003t0001 a0003c0003t0003 a0003c0003t0013	a0001c0001t0001g0143 a0001c0001t0001g0206 a0001c0001t0001g0231 others(25): Show a0001c0001t0001g0143 a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0003g0218 a0001c0001t0028g0174 a0002c0002t0001g0121 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0207 a0002c0002t0001g0233 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0129 a0002c0002t0003g0205 a0002c0002t0003g0216 a0002c0002t0008g0132 a0002c0002t0008g0227 a0003c0003t0001g0125 a0003c0003t0001g0184 a0003c0003t0001g0248 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0247 a0003c0003t0013g0146	28	35	0.8000	-15	c.28+ others(30): Show c.28+8658_28+8672delAAAAAAAAAAAAAAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51641652	TAAAAAAA others(8): Show TAAAAAAATAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03942.hp2 HG04199.hp2 HG01175.hp2 HG03942.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0220 a0001c0003t0007g0223 a0001c0003t0007g0307 a0001c0003t0007g0220 a0001c0003t0007g0223 a0001c0003t0007g0307	3	310	0.0097	-15	c.150 others(34): Show c.1507-2163_1507-2149delTATTTTTATTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51704781	AAAACAAA others(8): Show AAAACAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0002 a0001c0001t0077g0002	1	310	0.0032	-15	c.437 others(32): Show c.437-7314_437-7300delGTTTGTTTTTTGTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	4/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79234589	GTGCTTGC others(8): Show GTGCTTGCTGTGGGCC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG03225.hp1 others(1): Show HG02717.hp2 HG03041.hp1 HG03225.hp1 HG03516.hp2	a0001 a0013 a0001 a0013	a0001c0004 a0001c0014 a0001c0017 others(1): Show a0001c0004 a0001c0014 a0001c0017 a0013c0022	a0001c0004t0003 a0001c0014t0006 a0001c0017t0004 others(1): Show a0001c0004t0003 a0001c0014t0006 a0001c0017t0004 a0013c0022t0004	a0001c0004t0003g0113 a0001c0014t0006g0017 a0001c0017t0004g0099 others(1): Show a0001c0004t0003g0113 a0001c0014t0006g0017 a0001c0017t0004g0099 a0013c0022t0004g0277	4	286	0.0140	-15	c.110 others(36): Show c.1108-18763_1108-18749delCCTGCTTGCTGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPSCKMT_chr5_10220507_10254888	10249896	TTAAAAAA others(8): Show TTAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0104 a0001c0002t0004g0104	1	351	0.0028	-15	c.-38 others(22): Show c.-38_-24delTTTTTTTTTTTTTTA	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding		9		chr5	TogoVar
ATPSCKMT_chr5_10220507_10254888	10249897	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0216 a0002c0001t0001g0216	1	231	0.0043	-15	c.-39 others(22): Show c.-39_-25delTTTTTTTTTTTTTTT	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding		10		chr5	TogoVar
ATRNL1_chr10_115088365_115953999	115515763	CTGTTGGA others(8): Show CTGTTGGAAGTTCATT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp2 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0003 a0001c0011t0002 a0001c0003t0003 a0001c0011t0002	a0001c0003t0003g0058 a0001c0011t0002g0118 a0001c0003t0003g0058 a0001c0011t0002g0118	2	126	0.0159	-15	c.365 others(34): Show c.3655-3495_3655-3481delGGAAGTTCATTTGTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115940683	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01071.hp2 others(26): Show HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG02015.hp2 HG02300.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03239.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19070.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0013 a0002c0004 a0002c0008 a0002c0014	a0001c0001t0011 a0001c0001t0016 a0001c0002t0004 others(13): Show a0001c0001t0011 a0001c0001t0016 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0004 a0001c0003t0015 a0001c0003t0038 a0001c0006t0009 a0001c0006t0033 a0001c0009t0005 a0001c0013t0009 a0002c0004t0012 a0002c0008t0011 a0002c0014t0009	a0001c0001t0011g0114 a0001c0001t0011g0121 a0001c0001t0016g0031 others(26): Show a0001c0001t0011g0114 a0001c0001t0011g0121 a0001c0001t0016g0031 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0052 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0065 a0001c0002t0004g0127 a0001c0002t0005g0036 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0044 a0001c0002t0005g0051 a0001c0002t0005g0055 a0001c0002t0006g0089 a0001c0002t0028g0077 a0001c0003t0004g0040 a0001c0003t0015g0124 a0001c0003t0038g0122 a0001c0006t0009g0085 a0001c0006t0033g0035 a0001c0009t0005g0057 a0001c0013t0009g0079 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0008t0011g0072 a0002c0014t0009g0071	29	126	0.2302	-15	c.401 others(34): Show c.4019-3958_4019-3944delCTCTCTCTCTCTCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3484909	AATTATTA others(8): Show AATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG03486.hp2 HG01496.hp1 HG02280.hp1 HG03486.hp2	a0006 a0006	a0006c0015 a0006c0027 a0006c0015 a0006c0027	a0006c0015t0004 a0006c0015t0024 a0006c0027t0014 a0006c0015t0004 a0006c0015t0024 a0006c0027t0014	a0006c0015t0004g0026 a0006c0015t0024g0137 a0006c0027t0014g0028 a0006c0015t0004g0026 a0006c0015t0024g0137 a0006c0027t0014g0028	3	105	0.0286	-15	c.410 others(34): Show c.410+13417_410+13431delATTATTATTATTATT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3504688	GATAATAA others(8): Show GATAATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02145.hp2 others(8): Show HG01243.hp2 HG01891.hp1 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0001c0005 a0001c0006 others(3): Show a0001c0003 a0001c0005 a0001c0006 a0001c0014 a0008c0019 a0008c0020	a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 others(4): Show a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 a0001c0006t0003 a0001c0014t0002 a0008c0019t0004 a0008c0020t0014	a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(8): Show a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0031g0218 a0001c0005t0007g0213 a0001c0006t0003g0211 a0001c0006t0003g0212 a0001c0014t0002g0174 a0008c0019t0004g0210 a0008c0020t0014g0209	11	67	0.1642	-15	c.411 others(34): Show c.411-30528_411-30514delATAATAATAATAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3620219	AGTTTTGT others(8): Show AGTTTTGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03704.hp1 HG02886.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0135 a0001c0002t0003g0176 a0001c0002t0003g0135 a0001c0002t0003g0176	2	62	0.0323	-15	c.380 others(34): Show c.3802-4260_3802-4246delTTTTGTTTTGTTTTG	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp1 HG03225.hp2 others(1): Show HG02717.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0012	a0001c0001t0019 a0001c0002t0020 a0001c0006t0020 others(1): Show a0001c0001t0019 a0001c0002t0020 a0001c0006t0020 a0002c0012t0019	a0001c0001t0019g0129 a0001c0002t0020g0098 a0001c0006t0020g0180 others(1): Show a0001c0001t0019g0129 a0001c0002t0020g0098 a0001c0006t0020g0180 a0002c0012t0019g0158	4	9	0.4444	-15	c.386 others(34): Show c.3864-3361_3864-3347delTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0075 a0001c0005t0005g0075	1	11	0.0909	-15	c.621 others(34): Show c.6217+4236_6217+4250delTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	17	0.0588	-15	c.455 others(32): Show c.4557+882_4557+896delTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(8): Show CTATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01891.hp1 others(5): Show HG01256.hp1 HG01258.hp2 HG01891.hp1 HG02895.hp1 HG02897.hp1 HG03579.hp2 NA18947.hp1 NA19007.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0314 a0001c0004t0001g0315 a0001c0004t0001g0316 others(5): Show a0001c0004t0001g0314 a0001c0004t0001g0315 a0001c0004t0001g0316 a0001c0004t0001g0317 a0003c0003t0001g0167 a0003c0003t0001g0169 a0003c0003t0001g0185 a0003c0003t0001g0186	8	29	0.2759	-15	c.589 others(30): Show c.5898+68_5898+82delATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45735812	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19066.hp1 NA18970.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0058 a0001c0001t0001g0060	2	70	0.0286	-15	c.895 others(32): Show c.895-2910_895-2896delTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02895.hp2 others(4): Show HG02109.hp2 HG02723.hp2 HG02895.hp2 HG03540.hp2 NA18522.hp1 NA18949.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0092 others(4): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0002g0098 a0001c0001t0008g0301 a0001c0001t0012g0081 a0001c0001t0016g0300	7	11	0.6364	-15	c.117 others(36): Show c.1173+12873_1173+12887delTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795354	GATTCTAT others(8): Show GATTCTATTCTATTCT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02630.hp2 HG02809.hp2 others(4): Show HG01099.hp2 HG02630.hp2 HG02809.hp2 HG02922.hp1 NA18906.hp2 NA18964.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0001 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0001g0296 a0001c0001t0006g0087 a0001c0001t0014g0077	7	127	0.0551	-15	c.117 others(36): Show c.1174-11549_1174-11535delATTCTATTCTATTCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	AAATAGAA others(8): Show AAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG00639.hp1 others(58): Show HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01255.hp2 HG01361.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18953.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18988.hp1 NA18989.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0002c0003t0001	a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0089 others(58): Show a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0046 a0001c0001t0006g0120 a0001c0001t0007g0206 a0001c0001t0011g0136 a0002c0003t0001g0185	61	104	0.5865	-15	c.123 others(36): Show c.1237+12216_1237+12230delAATAGAATAGAATAG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar

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