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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATG14_chr14_55361391_55416830	55402912	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0035 a0001c0013t0035	a0001c0013t0035g0170 a0001c0013t0035g0170	1	364	0.0027	-30	c.222 others(47): Show c.222-5508_222-5479delATATATATATATATATTTTTTTTTTTTT TT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG16L1_chr2_233246673_233300669	233296639	GTGTGTGT others(23): Show GTGTGTGTGTATGTATGTATGTATGTATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG03098.hp2 HG02630.hp2 HG02723.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0202 a0002c0002t0006g0237 a0002c0002t0006g0259 a0002c0002t0006g0202 a0002c0002t0006g0237 a0002c0002t0006g0259	3	351	0.0085	-30	c.22 others(41): Show c.2290_*2319delTGTGTGTGTATGTATGTATGTATGTATGTA		ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding					971		chr2	TogoVar
ATG2B_chr14_96274195_96368341	96308227	TATACATA others(23): Show TATACATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0009 a0005c0010t0009	a0005c0010t0009g0109 a0005c0010t0009g0109	1	354	0.0028	-30	c.430 others(49): Show c.4303+1196_4303+1225delGTGTGTATATATATATATATATATAT GTAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308231	CATATATA others(23): Show CATATATATATATATATATATACACACATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19064.hp2 NA19043.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0019 a0001c0002t0001g0021	2	280	0.0071	-30	c.430 others(49): Show c.4303+1192_4303+1221delATATGTGTGTATATATATATATATAT ATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340120	AATATATA others(23): Show AATATATATATCATATATGATATATATGAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0241 a0001c0003t0035g0241	1	354	0.0028	-30	c.924 others(47): Show c.924+1372_924+1401delATTCATATATATCATATATGATATATAT AT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41						chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340131	CATATATG others(23): Show CATATATGATATATATGAATATATATATCAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	2	354	0.0056	-30	c.924 others(47): Show c.924+1361_924+1390delATGATATATATATTCATATATATCATAT AT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41						chr14	TogoVar
ATG5_chr6_106179476_106330760	106196809	TTCCCACT others(23): Show TTCCCACTCTAGGCACTCCTTAACCACACCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00735.hp1 others(17): Show HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01169.hp1 HG01433.hp2 HG01978.hp1 HG02056.hp1 HG02258.hp2 HG02273.hp1 HG02602.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04228.hp1 NA19003.hp1 NA19078.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 others(17): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0115 a0001c0001t0001g0219 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0345	20	356	0.0562	-30	c.691 others(47): Show c.691+5133_691+5162delGGGTGTGGTTAAGGAGTGCCTAGAGTGG GA		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	7/7						chr6	TogoVar
ATL2_chr2_38288954_38382273	38325631	CACACACA others(23): Show CACACACACACACACACACACACACACCAGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	234	0.0043	-30	c.364 others(47): Show c.364-6642_364-6613delACTGGTGTGTGTGTGTGTGTGTGTGTGT GT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38325669	CACACACA others(23): Show CACACACACACACACACACACACACACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01074.hp2 others(6): Show HG00140.hp1 HG00738.hp1 HG01074.hp2 HG02559.hp1 NA18953.hp2 NA18978.hp1 NA18981.hp2 NA18995.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0094 a0001c0001t0002g0051 a0001c0001t0002g0080 others(6): Show a0001c0001t0001g0094 a0001c0001t0002g0051 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0092 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0004g0140 a0001c0001t0004g0143	9	234	0.0385	-30	c.364 others(47): Show c.364-6680_364-6651delACTGGTGTGTGTGTGTGTGTGTGTGTGT GT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATP11C_chrX_139721348_139938053	139922223	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03516.hp1 HG02717.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0169 a0001c0001t0001g0173	2	12	0.1667	-30	c.27+ others(45): Show c.27+9763_27+9792delATATATATATATATATATATATATATATAT		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29						chrX	TogoVar
ATP2A3_chr17_3918873_3969437	3944887	GGGGCTCC others(23): Show GGGGCTCCGCCTCTTGGCCCCGCCCCCAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	330	0.0030	-30	c.118 others(46): Show c.1185-111_1185-82delTTCTGGGGGCGGGGCCAAGAGGCGGAGCC C		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	9/20						chr17	TogoVar
ATP2C1_chr3_130889084_131008150	130986903	GTTTAGTT others(23): Show GTTTAGTTTAGTTTAGTTTAGTTAGTTTAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(177): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0008 a0001c0006t0001 a0002c0004t0001 a0003c0005t0003 a0005c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(174): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0344 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0001g0372 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0007g0185 a0001c0001t0010g0122 a0001c0001t0011g0290 a0001c0002t0001g0010 a0001c0002t0001g0219 a0001c0002t0001g0238 a0001c0002t0001g0245 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0348 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0008g0334 a0001c0006t0001g0120 a0002c0004t0001g0107 a0003c0005t0003g0109 a0003c0005t0003g0110 a0005c0007t0001g0227	180	380	0.4737	-30	c.184 others(49): Show c.1840-6045_1840-6016delTAGTTTAGTTTAGTTTAGTTAGTTTA GTTT		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	20/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP6V0A1_chr17_42453878_42527579	42463151	CACCGCCG others(23): Show CACCGCCGAGCCCGGCTAATTTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp1 others(57): Show HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00642.hp1 HG01074.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18964.hp1 NA18966.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 others(52): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0005g0098 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0186 a0001c0001t0010g0164 a0001c0001t0015g0097 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143	60	318	0.1887	-30	c.117 others(47): Show c.117+2142_117+2171delCCGCCGAGCCCGGCTAATTTTTTTTTTC TA		ATP6V0A1	ENSG00000033627.18	transcript	ENST00000343619.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP6V0A1_chr17_42453878_42527579	42522858	TTACTCAT others(23): Show TTACTCATTGCACATCCAGACAGCATGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	318	0.0031	-30	c.17 others(41): Show c.1739_*1768delTACTCATTGCACATCCAGACAGCATGGGGG		ATP6V0A1	ENSG00000033627.18	transcript	ENST00000343619.9	protein_coding					280		chr17	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784223	TATATATA others(23): Show TATATATATATACGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02622.hp1 others(3): Show HG01891.hp1 HG01891.hp2 HG02622.hp1 HG02922.hp1 HG03225.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0020 a0002c0002 others(2): Show a0001c0001 a0001c0020 a0002c0002 a0003c0037 a0007c0017	a0001c0001t0007 a0001c0020t0001 a0001c0020t0007 others(3): Show a0001c0001t0007 a0001c0020t0001 a0001c0020t0007 a0002c0002t0001 a0003c0037t0009 a0007c0017t0001	a0001c0001t0007g0374 a0001c0020t0001g0036 a0001c0020t0007g0373 others(3): Show a0001c0001t0007g0374 a0001c0020t0001g0036 a0001c0020t0007g0373 a0002c0002t0001g0312 a0003c0037t0009g0345 a0007c0017t0001g0311	6	373	0.0161	-30	c.-18 others(47): Show c.-18+1905_-18+1934delGTATATATATATATATACGTATATATAT AT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21						chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145225	AAGAAAGA others(23): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01255.hp2 others(21): Show HG01074.hp1 HG01099.hp1 HG01255.hp2 HG02896.hp1 HG03130.hp2 HG03834.hp2 HG04228.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp2 NA18955.hp1 NA18961.hp2 NA18979.hp2 NA18980.hp1 NA18988.hp2 NA19001.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0144 a0001c0001t0001g0164 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0002g0313 a0001c0001t0003g0199 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0217 a0001c0001t0007g0145 a0002c0002t0001g0123	24	358	0.0670	-30	c.639 others(47): Show c.639+2283_639+2312delGAGAGAGAGAGAGAGAGAGAGAAAGAAA GA		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0E1_chr5_172978771_173040445	173014747	AGCACAAT others(23): Show AGCACAATGGGTACAAACATGTGGGGTACCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02809.hp1 others(4): Show HG02257.hp2 HG02630.hp1 HG02809.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0247 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0247 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014	7	292	0.0240	-30	c.153 others(47): Show c.153-5489_153-5460delCACAATGGGTACAAACATGTGGGGTACC CG		ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1A_chr3_113742035_113817056	113791865	AGCACTCT others(23): Show AGCACTCTTGCTTTGTTTGGAAACAAACAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(109): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19075.hp2 NA19081.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 others(98): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0010g0006 a0001c0001t0011g0112 a0001c0001t0012g0062 a0001c0001t0013g0051	112	310	0.3613	-30	c.988 others(47): Show c.988+2031_988+2060delCTTGCTTTGTTTGGAAACAAACAAGGCA CT		ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP6V1D_chr14_67332872_67364804	67335095	CATGCCAT others(23): Show CATGCCATACTTTTAGGAAGTCTGAGATGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG03491.hp2 HG03492.hp1 HG01261.hp2 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0035 a0001c0001t0001g0038	3	346	0.0087	-30	c.34 others(41): Show c.3496_*3525delATCATCTCAGACTTCCTAAAAGTATGGCAT		ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding					2776		chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631662	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	335	0.0030	-30	c.-30 others(41): Show c.-3057_-3028delTATATATATATATATATATATACACACACA		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding					2914		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	CATATATA others(23): Show CATATATATATATATATATATATGTGTATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01433.hp1 others(15): Show HG00140.hp1 HG01074.hp1 HG01433.hp1 HG02155.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03486.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18960.hp1 NA18993.hp2 NA19003.hp1 NA19043.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0025 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0222 a0001c0001t0002g0024 a0001c0001t0002g0087 a0001c0001t0002g0176 a0001c0001t0003g0122 a0001c0001t0003g0135 a0001c0001t0003g0161 a0001c0001t0003g0174 a0001c0001t0005g0132 a0001c0001t0006g0060 a0001c0001t0010g0156	18	295	0.0610	-30	c.-46 others(41): Show c.-4638_-4609delATATACACATATATATATATATATATATAT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					3875		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19091.hp1 HG03486.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0002g0253 a0001c0001t0001g0221 a0001c0001t0002g0253	2	183	0.0109	-30	c.127 others(47): Show c.1277+840_1277+869delATATATATATATATATATATATATATAT AT		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755718	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	274	0.0036	-30	c.127 others(47): Show c.1277+807_1277+836delAAAATATATATATATATATATATATATA TA		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13						chr8	TogoVar
ATP8B1_chr18_57641426_57808315	57661646	CGCACACA others(23): Show CGCACACATATATGTATGTGTGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00597.hp2 others(29): Show HG00280.hp2 HG00438.hp2 HG00597.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02523.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG03017.hp2 HG03490.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18968.hp1 NA18983.hp1 NA18987.hp1 NA18994.hp1 NA19000.hp2 NA19065.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0017 a0001c0001 a0006c0017	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023 a0006c0017t0010	a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0214 others(29): Show a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0002g0275 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0004g0034 a0001c0001t0004g0044 a0001c0001t0004g0050 a0001c0001t0004g0063 a0001c0001t0004g0081 a0001c0001t0004g0094 a0001c0001t0004g0120 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0138 a0001c0001t0010g0146 a0001c0001t0010g0153 a0001c0001t0010g0157 a0001c0001t0010g0162 a0001c0001t0010g0169 a0001c0001t0010g0170 a0001c0001t0010g0176 a0001c0001t0023g0167 a0001c0001t0023g0168 a0006c0017t0010g0155	32	264	0.1212	-30	c.241 others(47): Show c.2419-214_2419-185delATATACATACACACATACATATATGTGT GC		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	21/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57676637	TGAACCCA others(23): Show TGAACCCAGAAGGTGGAGGTTGCAGTGAGCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18986.hp2 NA19062.hp2 NA18964.hp2 NA18986.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0027 a0001c0001t0016g0040 a0001c0001t0017g0248 a0001c0001t0016g0027 a0001c0001t0016g0040 a0001c0001t0017g0248	3	312	0.0096	-30	c.163 others(49): Show c.1631-1645_1631-1616delGGCTCACTGCAACCTCCACCTTCTGG GTTC		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57717563	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAGAACT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0156 a0001c0001t0015g0156	1	312	0.0032	-30	c.182 others(49): Show c.182-11006_182-10977delAGTTCTTTTTTTTTTTTTTTTTTTTT TTTT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57731308	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0286 a0001c0001t0009g0286	1	143	0.0070	-30	c.181 others(45): Show c.181+289_181+318delATATATATATATATATATATATATATATAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27						chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50072962	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	237	0.0042	-30	c.87+ others(45): Show c.87+1135_87+1164delTATATATATATAGAGAGAGAGAGAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072964	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	239	0.0042	-30	c.87+ others(45): Show c.87+1133_87+1162delTATATATATATATAGAGAGAGAGAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072966	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	240	0.0042	-30	c.87+ others(45): Show c.87+1131_87+1160delTATATATATATATATAGAGAGAGAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072968	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	239	0.0042	-30	c.87+ others(45): Show c.87+1129_87+1158delTATATATATATATATATAGAGAGAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072970	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	240	0.0042	-30	c.87+ others(45): Show c.87+1127_87+1156delTATATATATATATATATATAGAGAGAGAGA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073005	TATATATA others(23): Show TATATATATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	252	0.0040	-30	c.87+ others(45): Show c.87+1092_87+1121delGTGTGTGTGTGTGTGTATATATATATATAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085928	CATATATA others(23): Show CATATATATTTATATATGATATATATCATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01074.hp1 others(3): Show HG00099.hp2 HG00733.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138	6	245	0.0245	-30	c.29- others(47): Show c.29-11773_29-11744delATATGATATATATCATATATAAATATAT AT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085933	ATATTTAT others(23): Show ATATTTATATATGATATATATCATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0001 a0007c0008t0017 a0003c0003t0001 a0007c0008t0017	a0003c0003t0001g0184 a0007c0008t0017g0021 a0003c0003t0001g0184 a0007c0008t0017g0021	2	249	0.0080	-30	c.29- others(47): Show c.29-11778_29-11749delAATATATATGATATATATCATATATAAA TA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086431	AATTATAT others(23): Show AATTATATATAATAAAATAATAGAGATCTAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG02148.hp1 others(2): Show HG00558.hp2 HG00642.hp1 HG02148.hp1 NA18951.hp1 NA18963.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0003c0003t0012 a0002c0002t0002 a0003c0003t0002 a0003c0003t0012	a0002c0002t0002g0084 a0003c0003t0002g0002 a0003c0003t0002g0035 others(2): Show a0002c0002t0002g0084 a0003c0003t0002g0002 a0003c0003t0002g0035 a0003c0003t0012g0029 a0003c0003t0012g0043	5	82	0.0610	-30	c.29- others(47): Show c.29-12276_29-12247delATAGATCTCTATTATTTTATTATATATA AT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086740	TTTATTAT others(23): Show TTTATTATATATAAAATAATAGAGATCTATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0098 a0001c0014t0001g0098	1	244	0.0041	-30	c.29- others(47): Show c.29-12585_29-12556delTATAGATCTCTATTATTTTATATATAAT AA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP9A_chr20_51591514_51773390	51615073	TGGGGTGG others(23): Show TGGGGTGGGGGTGCCTGGGGGGGCGGGGCGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0132 a0001c0003t0007g0132	1	310	0.0032	-30	c.241 others(49): Show c.2416-1271_2416-1242delCCGCCCCGCCCCCCCAGGCACCCCCA CCCC		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	22/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0099 a0001c0001t0011g0099	1	135	0.0074	-30	c.166 others(49): Show c.1668+1244_1668+1273delTATATATATATATATATATATATATA TAAA		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27						chr20	TogoVar
ATRN_chr20_3466018_3656118	3504688	GATAATAA others(23): Show GATAATAATAATAATAATAATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0007 a0012c0023t0007	a0012c0023t0007g0182 a0012c0023t0007g0182	1	57	0.0175	-30	c.411 others(49): Show c.411-30543_411-30514delATAATAATAATAATAATAATAATAAT AATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0099 a0001c0002t0006g0099	1	6	0.1667	-30	c.386 others(49): Show c.3864-3376_3864-3347delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18961.hp1 NA18977.hp1 others(2): Show NA18947.hp2 NA18961.hp1 NA18977.hp1 NA18995.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0030 others(2): Show a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0059 a0002c0002t0001g0208	5	26	0.1923	-30	c.513 others(49): Show c.5135-5526_5135-5497delATATATATATATATATATATATATAT ATAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77626055	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	216	0.0046	-30	c.513 others(49): Show c.5135-5553_5135-5524delCATATATATATATATATATATATATA TATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77777196	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	216	0.0046	-30	c.20+ others(45): Show c.20+8756_20+8785delGTATTTTTTTTTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATXN10_chr22_45666834_45850307	45819192	AAATAGAA others(23): Show AAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG03195.hp1 others(2): Show HG02717.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0282 a0001c0001t0001g0283 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285	5	48	0.1042	-30	c.123 others(51): Show c.1237+12201_1237+12230delAATAGAATAGAATAGAATAGAATA GAATAG		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16327654	CTGCTGCT others(23): Show CTGCTGCTGCTGCTGCTGCTGCTGATGCTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0002 a0006c0024t0002	a0006c0024t0002g0170 a0006c0024t0002g0170	1	180	0.0056	-30	c.627 others(37): Show c.627_656delTCAGCATCAGCAGCAGCAGCAGCAGCAGCA	p.His others(13): Show p.His209_Gln218del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1548/10557	627/2448	209/815			chr6	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533854	AAAAATAA others(23): Show AAAAATAAAAATAAAAAAAAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02602.hp1 HG04204.hp1 HG01074.hp2 HG02602.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	403	0.0074	-30	c.-42 others(41): Show c.-4258_-4229delAAAATAAAAATAAAAAAAAAATAAATAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3980		chr12	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533858	ATAAAAAT others(23): Show ATAAAAATAAAAAAAAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01928.hp2 others(23): Show HG00438.hp1 HG00673.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG02080.hp1 HG02132.hp1 HG02300.hp2 HG02895.hp1 HG02897.hp1 HG03239.hp1 HG03669.hp1 HG03688.hp1 HG04115.hp1 NA18945.hp2 NA18957.hp2 NA18965.hp1 NA18975.hp1 NA18987.hp1 NA18995.hp1 NA19000.hp2 NA19009.hp2 NA19060.hp2 NA19074.hp1 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0072 others(2): Show a0001c0001t0002 a0001c0001t0030 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075	a0001c0001t0002g0000 a0001c0001t0030g0000 a0001c0001t0072g0000 others(2): Show a0001c0001t0002g0000 a0001c0001t0030g0000 a0001c0001t0072g0000 a0001c0001t0074g0000 a0001c0001t0075g0000	26	403	0.0645	-30	c.-42 others(41): Show c.-4254_-4225delTAAAAATAAAAAAAAAATAAATAAATAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3976		chr12	TogoVar
AURKB_chr17_8199734_8215575	8212706	TCTACAAA others(23): Show TCTACAAATAAAAAAAAAAAAAATTAGCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	426	0.0023	-30	c.-22 others(41): Show c.-2232_-2203delCTGGCTAATTTTTTTTTTTTTTATTTGTAG		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					2132		chr17	TogoVar
AUTS2_chr7_69593475_70798506	69602032	ATATATAT others(23): Show ATATATATATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(20): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01243.hp1 HG01433.hp2 HG01952.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02622.hp2 HG02886.hp1 HG03017.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 NA18612.hp1 NA18952.hp1 NA19030.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0003t0008 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0005c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 others(20): Show a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0003g0061 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0056 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0021g0060 a0001c0001t0025g0050 a0001c0003t0008g0039 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0005c0009t0001g0043	23	72	0.3194	-30	c.309 others(47): Show c.309+2072_309+2101delATATATATGTGTGTGTGTGTGTGTGTGT GT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar

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