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
AMPH_chr7_38378704_38636373	38570999	CATATATA others(25): Show CATATATATAGAATATATATATTCATATATTGA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	186	0.0054	-32	c.70- others(49): Show c.70-36020_70-35989delTCAATATATGAATATATATATTCTATAT ATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMTN_chr4_70513569_70537743	70516344	ATATATAT others(25): Show ATATATATACATATATATGTATATATATACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02027.hp1 HG02135.hp1 others(2): Show HG01255.hp2 HG02027.hp1 HG02135.hp1 HG02155.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0019 a0002c0003t0001g0087 a0002c0003t0001g0004 a0002c0003t0001g0019 a0002c0003t0001g0087	5	408	0.0123	-32	c.-23 others(43): Show c.-2325_-2294delTATATATACATATATATGTATATATATACATG	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2224		chr4	TogoVar
AMY2A_chr1_103612427_103630780	103623804	AAAGGAGA others(25): Show AAAGGAGAAGGAAGAGGTAAATACATGCATAGT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	310	0.0032	-32	c.110 others(47): Show c.1102-59_1102-28delGGAGAAGGAAGAGGTAAATACATGCATAGT AA	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANAPC16_chr10_72211012_72240860	72218161	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19057.hp1 NA18968.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0173 a0001c0001t0002g0127 a0001c0001t0002g0173	2	286	0.0070	-32	c.-28 others(49): Show c.-28+2025_-28+2056delAAAATATATATATATATATATATATATA TATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANGPT1_chr8_107244482_107502918	107299471	ATACTAAG others(25): Show ATACTAAGCATATATATACTAAGCATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18939.hp2 NA18977.hp1 others(2): Show HG00544.hp2 NA18939.hp2 NA18977.hp1 NA19060.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0024 a0001c0001t0008g0103 a0001c0001t0008g0274 others(2): Show a0001c0001t0001g0024 a0001c0001t0008g0103 a0001c0001t0008g0274 a0001c0001t0008g0280 a0001c0001t0008g0281	5	290	0.0172	-32	c.936 others(49): Show c.936+3737_936+3768delCATATATATGCTTAGTATATATATGCTT AGTA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	5/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(24): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00642.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG02015.hp2 HG02622.hp1 HG02630.hp2 HG03710.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA19011.hp2 NA19056.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0009 a0001c0001t0001g0114 a0001c0001t0001g0122 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0090 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0150 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0252 a0001c0001t0002g0271 a0001c0001t0013g0144	27	111	0.2432	-32	c.298 others(51): Show c.298-23275_298-23244delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPTL8_chr19_11234619_11246943	11246613	ACAGAGCT others(25): Show ACAGAGCTCCTCCTCCCTGCAACCACGGCCCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	-32	c.49 others(43): Show c.4927_*4958delCAGAGCTCCTCCTCCCTGCAACCACGGCCCTT	ANGPTL8	ENSG00000130173.14	transcript	ENST00000252453.12	protein_coding		4671		chr19	TogoVar
ANKAR_chr2_189669670_189751647	189742816	GCACATTA others(25): Show GCACATTAGAATTACCTGACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp2 NA19083.hp2 HG00597.hp1 HG02135.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0168	3	294	0.0102	-32	c.381 others(49): Show c.3811-422_3811-391delTTAGAATTACCTGACACACACACACACA CACA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189742905	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18906.hp2 HG02165.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0248 a0001c0001t0001g0018 a0001c0001t0001g0248	2	42	0.0476	-32	c.381 others(49): Show c.3811-325_3811-294delACACACACACACACACACACACACACAC ACAC	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKHD1_chr5_140396833_140544849	140419774	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	119	0.0084	-32	c.307 others(51): Show c.307-16298_307-16267delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140458965	TATATATA others(25): Show TATATATATATATATGCATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp2 HG02055.hp1 others(7): Show HG01099.hp1 HG01496.hp2 HG02055.hp1 HG02056.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0142 others(7): Show a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0193 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244	10	320	0.0313	-32	c.148 others(49): Show c.1480+118_1480+149delGCATATATATATATATGCATATATATAT ATAT	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92371950	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0021 a0001c0004t0005g0021	1	42	0.0238	-32	c.161 others(49): Show c.1617+374_1617+405delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110915591	TGGAGGTC others(25): Show TGGAGGTCACGGGGCTCGGAGGTCACGGGGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	21	0.0476	-32	c.-68 others(41): Show c.-689_-658delGAGCCCCGTGACCTCCGAGCCCCGTGACCTCC	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding		523		chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89293383	CAGGGAGG others(25): Show CAGGGAGGAGCTGGGGCAGAGTTGGGGTTGCGG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0290 a0004c0004t0001g0290	1	304	0.0033	-32	c.227 others(49): Show c.227-2232_227-2201delCCGCAACCCCAACTCTGCCCCAGCTCCT CCCT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89293563	ATTGGGGC others(25): Show ATTGGGGCTGCGGAGGGAGGAGCTGGGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(54): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02559.hp2 HG02698.hp2 HG02738.hp1 HG03017.hp2 HG03471.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18964.hp2 NA18969.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19067.hp1 NA19077.hp1 NA19085.hp1 NA20129.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0014 a0018 a0026 a0030	a0001c0001 a0002c0002 a0002c0009 others(7): Show a0001c0001 a0002c0002 a0002c0009 a0002c0041 a0002c0047 a0006c0044 a0014c0042 a0018c0045 a0026c0040 a0030c0039	a0001c0001t0002 a0002c0002t0002 a0002c0002t0008 others(11): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0009t0001 a0002c0009t0002 a0002c0041t0002 a0002c0047t0005 a0006c0044t0002 a0014c0042t0002 a0018c0045t0001 a0026c0040t0002 a0030c0039t0007	a0001c0001t0002g0055 a0002c0002t0002g0033 a0002c0002t0002g0045 others(54): Show a0001c0001t0002g0055 a0002c0002t0002g0033 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0129 a0002c0002t0002g0137 a0002c0002t0002g0141 a0002c0002t0002g0151 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0171 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0204 a0002c0002t0002g0223 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0262 a0002c0002t0002g0270 a0002c0002t0002g0280 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0289 a0002c0002t0002g0295 a0002c0002t0002g0299 a0002c0002t0002g0306 a0002c0002t0008g0170 a0002c0002t0009g0115 a0002c0002t0010g0122 a0002c0009t0001g0294 a0002c0009t0001g0301 a0002c0009t0002g0284 a0002c0041t0002g0104 a0002c0047t0005g0215 a0006c0044t0002g0142 a0014c0042t0002g0112 a0018c0045t0001g0205 a0026c0040t0002g0246 a0030c0039t0007g0268	57	308	0.1851	-32	c.227 others(49): Show c.227-2412_227-2381delCTCTGCCCCAGCTCCTCCCTCCGCAGCC CCAA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89293671	AGAGGGAG others(25): Show AGAGGGAGGAGCTGGGGCAGAGTTGGGGCTGCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	308	0.0032	-32	c.227 others(49): Show c.227-2520_227-2489delCGCAGCCCCAACTCTGCCCCAGCTCCTC CCTC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89489783	CCCGCCCC others(25): Show CCCGCCCCGGAGCCCCCTGTCCGCCTCTCACGG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0128 a0007c0012t0001g0128	1	308	0.0032	-32	c.-14 others(49): Show c.-145+430_-145+461delCCGTGAGAGGCGGACAGGGGGCTCCGGG GCGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD22_chr10_88814896_88856844	88832379	TAAAATAC others(25): Show TAAAATACCTTTATCTTTATCTTTACTAAAGAC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0217 a0001c0002t0012g0217	1	403	0.0025	-32	c.22- others(45): Show c.22-385_22-354delGTCTTTAGTAAAGATAAAGATAAAGGTATTTT	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	1/5			chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88832479	ATATCTTT others(25): Show ATATCTTTATCTTTAGTAAAGACAAAATGTCTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	416	0.0024	-32	c.22- others(45): Show c.22-485_22-454delAAGACATTTTGTCTTTACTAAAGATAAAGATA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	1/5			chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88832494	GTAAAGAC others(25): Show GTAAAGACAAAATGTCTTTATCTTTATCTTTAC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	390	0.0026	-32	c.22- others(45): Show c.22-500_22-469delGTAAAGATAAAGATAAAGACATTTTGTCTTTA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	1/5			chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88832501	CAAAATGT others(25): Show CAAAATGTCTTTATCTTTATCTTTACTAAAGAT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	393	0.0025	-32	c.22- others(45): Show c.22-507_22-476delATCTTTAGTAAAGATAAAGATAAAGACATTTT	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	1/5			chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37179013	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 NA18522.hp2 HG02886.hp1 HG03540.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0263 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0263	3	66	0.0455	-32	c.242 others(51): Show c.2421+2815_2421+2846delTATATATATATATATATATATATATA TATATA	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD31_chr5_75063297_75241878	75224129	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp1 others(45): Show HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG02055.hp2 HG02083.hp1 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG06807.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18957.hp1 NA18959.hp1 NA18978.hp2 NA18979.hp1 NA18988.hp1 NA18993.hp1 NA18999.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0001c0019 others(3): Show a0001c0002 a0001c0009 a0001c0019 a0001c0020 a0001c0022 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0009t0001 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0009t0001 a0001c0009t0003 a0001c0019t0003 a0001c0020t0001 a0001c0022t0001 a0002c0001t0002	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0055 others(41): Show a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0009t0001g0155 a0001c0009t0001g0156 a0001c0009t0001g0157 a0001c0009t0001g0158 a0001c0009t0001g0159 a0001c0009t0001g0160 a0001c0009t0001g0161 a0001c0009t0003g0017 a0001c0019t0003g0016 a0001c0020t0001g0076 a0001c0022t0001g0086 a0002c0001t0002g0007 a0002c0001t0002g0229	48	230	0.2087	-32	c.179 others(49): Show c.179-1803_179-1772delCATATATATATATATATATATATATATA TATA	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	2/25			chr5	TogoVar
ANKRD36C_chr2_95844548_95996824	95963940	TATAAATA others(25): Show TATAAATATATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0186 a0002c0004t0001g0186	1	296	0.0034	-32	c.800 others(49): Show c.800-1425_800-1394delTTATATATATATATTTATATATATATAT TTAT	ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	6/87			chr2	TogoVar
ANKRD36C_chr2_95844548_95996824	95963944	AATATATA others(25): Show AATATATATATATAAATATATATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01071.hp2 others(5): Show HG00597.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG02109.hp2 HG02965.hp2 HG03516.hp2 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0004 others(1): Show a0001c0006 a0001c0008 a0002c0004 a0002c0005	a0001c0006t0001 a0001c0008t0001 a0002c0004t0001 others(1): Show a0001c0006t0001 a0001c0008t0001 a0002c0004t0001 a0002c0005t0001	a0001c0006t0001g0173 a0001c0008t0001g0002 a0001c0008t0001g0278 others(3): Show a0001c0006t0001g0173 a0001c0008t0001g0002 a0001c0008t0001g0278 a0002c0004t0001g0007 a0002c0004t0001g0225 a0002c0005t0001g0268	8	176	0.0455	-32	c.800 others(49): Show c.800-1429_800-1398delATATTTATATATATATATTTATATATAT ATAT	ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	6/87			chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197273976	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG03579.hp1 others(1): Show HG02622.hp1 HG02965.hp2 HG03579.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0014 a0002c0003t0002 a0001c0002t0001 a0001c0002t0014 a0002c0003t0002	a0001c0002t0001g0026 a0001c0002t0014g0074 a0002c0003t0002g0009 others(1): Show a0001c0002t0001g0026 a0001c0002t0014g0074 a0002c0003t0002g0009 a0002c0003t0002g0044	4	88	0.0455	-32	c.27+ others(49): Show c.27+36570_27+36601delATATATATATATATATATATATATATAT TTTT	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197273978	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	88	0.0114	-32	c.27+ others(49): Show c.27+36568_27+36599delATATATATATATATATATATATATATAT ATTT	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD62_chr18_12088843_12134764	12127321	TCTTCTGA others(25): Show TCTTCTGAGGTGGAAATCTGTTGGAAGGATTTG	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0084 a0002c0003t0002g0084	1	390	0.0026	-32	c.256 others(49): Show c.2563-426_2563-395delCTTCTGAGGTGGAAATCTGTTGGAAGGA TTTG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	13/13			chr18	TogoVar
ANO4_chr12_100789776_101133629	100970663	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	24	0.0417	-32	c.457 others(47): Show c.457-608_457-577delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO7_chr2_241183677_241230976	241213174	AGGCCCGC others(25): Show AGGCCCGCAGGGGCTGGCCTCCTCATGGCACAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01167.hp2 others(22): Show HG00642.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp2 HG01934.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0003 a0005 others(7): Show a0001 a0003 a0005 a0006 a0007 a0008 a0016 a0017 a0018 a0025	a0001c0050 a0001c0074 a0003c0049 others(12): Show a0001c0050 a0001c0074 a0003c0049 a0005c0027 a0005c0062 a0005c0077 a0006c0006 a0006c0018 a0007c0029 a0008c0066 a0016c0036 a0016c0037 a0017c0072 a0018c0055 a0025c0045	a0001c0050t0013 a0001c0074t0013 a0003c0049t0010 others(15): Show a0001c0050t0013 a0001c0074t0013 a0003c0049t0010 a0005c0027t0001 a0005c0062t0008 a0005c0077t0001 a0006c0006t0001 a0006c0006t0009 a0006c0006t0017 a0006c0018t0001 a0006c0018t0017 a0007c0029t0022 a0008c0066t0001 a0016c0036t0001 a0016c0037t0001 a0017c0072t0013 a0018c0055t0003 a0025c0045t0021	a0001c0050t0013g0129 a0001c0074t0013g0330 a0003c0049t0010g0263 others(21): Show a0001c0050t0013g0129 a0001c0074t0013g0330 a0003c0049t0010g0263 a0005c0027t0001g0223 a0005c0062t0008g0256 a0005c0077t0001g0077 a0006c0006t0001g0006 a0006c0006t0009g0006 a0006c0006t0009g0108 a0006c0006t0009g0113 a0006c0006t0009g0114 a0006c0006t0009g0117 a0006c0006t0009g0119 a0006c0006t0017g0257 a0006c0018t0001g0222 a0006c0018t0017g0161 a0007c0029t0022g0078 a0007c0029t0022g0080 a0008c0066t0001g0038 a0016c0036t0001g0311 a0016c0037t0001g0294 a0017c0072t0013g0331 a0018c0055t0003g0054 a0025c0045t0021g0338	25	392	0.0638	-32	c.172 others(49): Show c.1728+581_1728+612delGGCCCGCAGGGGCTGGCCTCCTCATGGC ACAC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO9_chr11_412938_447011	438353	TCCCCCCA others(25): Show TCCCCCCAACACACACAGCCAGACAGGTGTAGC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18995.hp1 NA18951.hp1 NA18995.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0198 a0008c0007t0001g0199 a0008c0007t0001g0198 a0008c0007t0001g0199	2	284	0.0070	-32	c.6+3 others(45): Show c.6+3536_6+3567delGCTACACCTGTCTGGCTGTGTGTGTTGGGGGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22			chr11	TogoVar
ANTXR1_chr2_69008179_69254327	69096282	AAGGAAGG others(25): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp1 HG03098.hp2 others(1): Show HG00735.hp2 HG02280.hp1 HG03098.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0021 a0001c0001t0004g0200 a0001c0001t0004g0203 others(1): Show a0001c0001t0001g0021 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0006g0098	4	130	0.0308	-32	c.703 others(49): Show c.703+5427_703+5458delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69196972	GGGAGCCA others(25): Show GGGAGCCAGAGCCTAGAGCCACCGCCCTTCCCT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0022 a0004c0008t0022	a0004c0008t0022g0129 a0004c0008t0022g0129	1	204	0.0049	-32	c.143 others(51): Show c.1434+3560_1434+3591delAGCCAGAGCCTAGAGCCACCGCCCTT CCCTGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR2_chr4_79896146_80078229	80075435	GTCTTGTT others(25): Show GTCTTGTTTATAATTTGGTGTCTTATGAACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0156 a0001c0001t0016g0156	1	266	0.0038	-32	c.-29 others(43): Show c.-2907_-2876delTGTGTTCATAAGACACCAAATTATAAACAAGA	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding		2207		chr4	TogoVar
ANTXRL_chr10_46281997_46335129	46293289	CGTGTGTG others(25): Show CGTGTGTGCCTGTGTGTGTGTGCGTGTGTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0179 a0002c0012t0001g0179	1	368	0.0027	-32	c.321 others(47): Show c.321-532_321-501delCCTGTGTGTGTGTGCGTGTGTGCCTGTGTG TG	ANTXRL	ENSG00000274209.6	transcript	ENST00000620264.5	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
AOAH_chr7_36507941_36729494	36516321	ACACAGAA others(25): Show ACACAGAAAGCACACAGATACCACACACACCCC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02572.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0142 a0001c0001t0003g0134 a0001c0001t0003g0142	2	304	0.0066	-32	c.160 others(51): Show c.1600-2973_1600-2942delGGGGTGTGTGTGGTATCTGTGTGCTT TCTGTG	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36678550	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG02132.hp2 others(12): Show HG00558.hp1 HG00741.hp2 HG02132.hp2 HG02155.hp1 HG02280.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp2 HG04184.hp2 NA18970.hp1 NA19010.hp1 NA19030.hp2 NA19062.hp2 NA19065.hp2 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0004c0005t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(12): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0003g0078 a0001c0003t0001g0287 a0001c0009t0001g0079 a0002c0002t0001g0238 a0002c0002t0002g0239 a0004c0005t0001g0062	15	66	0.2273	-32	c.224 others(49): Show c.224-4573_224-4542delACACACACACACACACACACACACACAC ACAC	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20			chr7	TogoVar
AOX1_chr2_200581014_200676495	200630548	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	28	0.0357	-32	c.222 others(51): Show c.2221+3120_2221+3151delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M2_chr19_10567671_10592312	10585276	GAAGAAAA others(25): Show GAAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	209	0.0048	-32	c.43- others(47): Show c.43-1238_43-1207delTCTTTCTTTCTTTCTTTCTTTCTTTTTTTC TT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S3_chr2_223750326_223842582	223780288	TATATATA others(25): Show TATATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0130 a0001c0001t0021g0130	1	338	0.0030	-32	c.4-2 others(45): Show c.4-2451_4-2420delCTCTCTCTCTCTATATATATATATATATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780290	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01361.hp1 HG00140.hp2 HG01255.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0063 a0001c0001t0004 a0001c0001t0063	a0001c0001t0004g0101 a0001c0001t0004g0111 a0001c0001t0063g0110 a0001c0001t0004g0101 a0001c0001t0004g0111 a0001c0001t0063g0110	3	337	0.0089	-32	c.4-2 others(45): Show c.4-2453_4-2422delCTCTCTCTCTCTCTATATATATATATATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780304	TATATAGA others(25): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0180 a0001c0001t0012g0180	1	284	0.0035	-32	c.4-2 others(45): Show c.4-2467_4-2436delCTCTCTCTCTCTCTCTCTCTCTCTCTCTATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2B1_chr17_35582322_35731413	35589257	CCTCTCAC others(25): Show CCTCTCACCTTTATAATAAAAGATTACTGGAAT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	370	0.0027	-32	c.-24 others(49): Show c.-24+1830_-24+1861delCTCTCACCTTTATAATAAAAGATTACTG GAAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	1/21			chr17	TogoVar
AP3S2_chr15_89825599_89898994	89844241	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG02809.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0255 a0001c0001t0002g0190 a0001c0001t0002g0255	2	272	0.0074	-32	c.346 others(49): Show c.346-6551_346-6520delGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858507	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp1 others(29): Show HG00099.hp2 HG00280.hp1 HG00733.hp1 HG00738.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01516.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp1 HG02280.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG03098.hp2 HG03239.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG04184.hp2 NA18966.hp1 NA18975.hp2 NA19030.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0034	a0001c0001t0001g0010 a0001c0001t0001g0128 a0001c0001t0001g0155 others(28): Show a0001c0001t0001g0010 a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0283 a0001c0001t0002g0012 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0189 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0006g0151 a0001c0001t0011g0175 a0001c0001t0021g0152 a0001c0001t0022g0162 a0001c0001t0034g0181	32	309	0.1036	-32	c.345 others(51): Show c.345+12936_345+12967delTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4S1_chr14_31020649_31101450	31059963	ATATATGT others(25): Show ATATATGTATTTATGTATATATGTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(96): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp2 HG01928.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18968.hp1 NA18968.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19060.hp2 NA19062.hp1 NA19068.hp2 NA19078.hp1 NA19080.hp2 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0034 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(95): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0203 a0001c0001t0004g0209 a0001c0001t0004g0216 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0261 a0001c0001t0004g0278 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0007g0157 a0001c0001t0007g0161 a0001c0001t0007g0208 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0008g0003 a0001c0001t0008g0014 a0001c0001t0008g0244 a0001c0001t0014g0158 a0001c0001t0014g0159 a0001c0001t0014g0160 a0001c0001t0015g0143 a0001c0001t0015g0211 a0001c0001t0018g0205 a0001c0001t0034g0010 a0001c0001t0039g0133 a0001c0001t0041g0227 a0001c0001t0042g0013 a0001c0001t0044g0131 a0001c0001t0049g0229	99	344	0.2878	-32	c.-71 others(49): Show c.-71-6127_-71-6096delATGTATTTATGTATATATGTATATATAT TTAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
APAF1_chr12_98640290_98740433	98715235	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	73	0.0137	-32	c.295 others(49): Show c.2959-177_2959-146delATATATATATATATATATATATATATAT ATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69523477	GTATATAT others(25): Show GTATATATATATATATATATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp2 HG02970.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0030 a0001c0001t0020 a0002c0002t0030	a0001c0001t0020g0068 a0002c0002t0030g0067 a0001c0001t0020g0068 a0002c0002t0030g0067	2	152	0.0132	-32	c.-69 others(49): Show c.-69-6230_-69-6199delTATATATATATACATATATATATATATA TATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69523504	TATATATA others(25): Show TATATATATATATATATATATATATATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01074.hp2 others(31): Show HG00597.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02886.hp2 HG03209.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp1 NA18953.hp2 NA18966.hp1 NA18982.hp1 NA18985.hp1 NA18998.hp2 NA19009.hp1 NA19066.hp1 NA19074.hp2 NA20752.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 a0001c0001t0034 a0004c0007t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0058 others(31): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0007g0051 a0001c0001t0014g0111 a0001c0001t0014g0195 a0001c0001t0025g0140 a0001c0001t0034g0207 a0004c0007t0001g0113	34	208	0.1635	-32	c.-69 others(49): Show c.-69-6257_-69-6226delGTCTATATATATATATATATATATATAT ATAT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658292	CTTTCTCT others(25): Show CTTTCTCTCTCTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	182	0.0055	-32	c.-70 others(51): Show c.-70+13829_-70+13860delAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar

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