Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ANKS1A_chr6_34884255_35096406	34991743	CATATATA others(21): Show CATATATACACACATATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	318	0.0031	-28	c.130 others(47): Show c.1302+2453_1302+2480delCATATATATACACACATATATATATA CA	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKS1B_chr12_98738974_99989936	98857024	AGACATAA others(21): Show AGACATAACCCCTGCACACAATGATTCCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02273.hp1 HG03239.hp1 others(2): Show HG02258.hp1 HG02273.hp1 HG03239.hp1 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0002t0009 a0001c0002t0024	a0001c0001t0001g0007 a0001c0001t0004g0005 a0001c0001t0013g0027 others(2): Show a0001c0001t0001g0007 a0001c0001t0004g0005 a0001c0001t0013g0027 a0001c0002t0009g0028 a0001c0002t0024g0045	5	46	0.1087	-28	c.277 others(49): Show c.2779-24916_2779-24889delAGGAATCATTGTGTGCAGGGGTTA TGTC	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	17/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99016173	GAATTTCT others(21): Show GAATTTCTTTGTTAGACATTTGCTATGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp1 HG02273.hp2 others(8): Show HG01081.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0026 a0001c0002t0019 a0001c0003t0017 a0003c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0004g0005 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0004g0005 a0001c0001t0007g0021 a0001c0001t0011g0002 a0001c0001t0013g0027 a0001c0001t0018g0032 a0001c0001t0026g0046 a0001c0002t0019g0037 a0001c0003t0017g0036 a0003c0010t0001g0025	11	46	0.2391	-28	c.277 others(49): Show c.2778+36956_2778+36983delTTCATAGCAAATGTCTAACAAAGA AATT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	17/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99380754	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG02895.hp1 others(4): Show HG01081.hp1 HG01109.hp1 HG02895.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0012 others(2): Show a0001c0001 a0001c0004 a0001c0012 a0002c0009 a0004c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0004t0012 a0001c0012t0001 a0002c0009t0008 a0004c0008t0004	a0001c0001t0001g0039 a0001c0001t0007g0021 a0001c0001t0018g0032 others(4): Show a0001c0001t0001g0039 a0001c0001t0007g0021 a0001c0001t0018g0032 a0001c0004t0012g0003 a0001c0012t0001g0016 a0002c0009t0008g0026 a0004c0008t0004g0009	7	26	0.2692	-28	c.175 others(49): Show c.1756+18849_1756+18876delAGGAAGGAAGGAAGGAAGGAAGGA AGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26			chr12	TogoVar
ANKUB1_chr3_149756100_149797554	149793732	GAAAGAGA others(21): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG02622.hp1 others(6): Show HG00735.hp1 HG01243.hp2 HG02622.hp1 HG02630.hp2 HG02738.hp1 HG02965.hp2 HG03540.hp1 HG03834.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0002c0002t0002	a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 others(6): Show a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0003t0002g0298 a0001c0003t0005g0305 a0001c0003t0006g0304 a0002c0002t0002g0299	9	370	0.0243	-28	c.-13 others(39): Show c.-1394_-1367delTTCTTTCTTTCTTTCTTTCTTTCTCTTT	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding		1179		chr3	TogoVar
ANO1_chr11_70073317_70194530	70095279	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG03225.hp2 others(2): Show HG02486.hp2 HG02630.hp1 HG03225.hp2 HG06807.hp2 NA18906.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0002 a0001c0004 a0001c0011 others(2): Show a0001c0002 a0001c0004 a0001c0011 a0002c0009 a0013c0024	a0001c0002t0002 a0001c0004t0001 a0001c0011t0019 others(2): Show a0001c0002t0002 a0001c0004t0001 a0001c0011t0019 a0002c0009t0003 a0013c0024t0001	a0001c0002t0002g0209 a0001c0004t0001g0293 a0001c0011t0019g0252 others(2): Show a0001c0002t0002g0209 a0001c0004t0001g0293 a0001c0011t0019g0252 a0002c0009t0003g0249 a0013c0024t0001g0286	5	290	0.0172	-28	c.441 others(45): Show c.441+7199_441+7226delGGAAGGAAGGAAGGAAGGAAAGAAAGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO2_chr12_5557655_5950259	5610167	TTACTTAT others(21): Show TTACTTATATAAATACTTATATAAATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01167.hp1 others(17): Show HG00621.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp1 HG02080.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp2 HG04204.hp1 NA18612.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0005 a0002c0006 others(5): Show a0001c0001 a0001c0005 a0002c0006 a0003c0004 a0003c0007 a0003c0011 a0005c0015 a0009c0022	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0002c0006t0001 a0003c0004t0001 a0003c0007t0001 a0003c0011t0001 a0005c0015t0001 a0009c0022t0002	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0063 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0005g0156 a0001c0005t0001g0003 a0001c0005t0001g0049 a0001c0005t0001g0070 a0001c0005t0002g0134 a0001c0005t0002g0148 a0001c0005t0005g0162 a0001c0005t0006g0130 a0001c0005t0006g0131 a0002c0006t0001g0099 a0003c0004t0001g0030 a0003c0007t0001g0039 a0003c0011t0001g0072 a0005c0015t0001g0077 a0009c0022t0002g0129	20	160	0.1250	-28	c.208 others(47): Show c.2087+2461_2087+2488delTATATTTATATAAGTATTTATATAAG TA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5610230	TATAAATA others(21): Show TATAAATATATAAATGCATATATTTATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02717.hp1 others(6): Show HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 NA18982.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0007c0014 others(1): Show a0001c0001 a0001c0002 a0007c0014 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0007c0014t0001 a0008c0012t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0069 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0069 a0001c0001t0002g0140 a0001c0001t0002g0159 a0001c0002t0001g0091 a0007c0014t0001g0045 a0007c0014t0001g0046 a0008c0012t0001g0056	9	76	0.1184	-28	c.208 others(47): Show c.2087+2398_2087+2425delGTATAAATATATGCATTTATATATTT AT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5664368	CATCCATC others(21): Show CATCCATCCATCCATTCATATACCCATCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0146 a0008c0012t0002g0146	1	160	0.0063	-28	c.154 others(49): Show c.1546-16595_1546-16568delAGATGGGTATATGAATGGATGGAT GGAT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26564728	CACACATA others(21): Show CACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0081 a0001c0005t0010g0081	1	156	0.0064	-28	c.144 others(47): Show c.1447+4951_1447+4978delCACATATATATATATATATATATATA TA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	101103181	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	39	0.0256	-28	c.214 others(47): Show c.2149+3463_2149+3490delTTATATATATATATATATATATATAT AT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	101104619	GTATGTGT others(21): Show GTATGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00733.hp1 others(25): Show HG00099.hp1 HG00639.hp1 HG00733.hp1 HG01167.hp2 HG01261.hp2 HG01515.hp1 HG01952.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02572.hp2 HG03098.hp2 HG03130.hp2 HG04184.hp1 HG04184.hp2 NA18944.hp2 NA18963.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp1 NA19007.hp2 NA19065.hp2 NA19072.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0004c0012	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0004c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0027 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0164 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0003t0001g0030 a0001c0003t0001g0153 a0002c0004t0001g0151 a0002c0004t0001g0167 a0004c0012t0001g0157	28	225	0.1244	-28	c.214 others(47): Show c.2149+4903_2149+4930delGTGTGTATATATATATATATATATAT AT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	101104623	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	231	0.0043	-28	c.214 others(47): Show c.2149+4905_2149+4932delGTGTATATATATATATATATATATAT AT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO7_chr2_241183677_241230976	241196838	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(44): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01943.hp1 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18984.hp2 NA19005.hp2 NA19065.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0009 a0013 a0025 a0031	a0001c0001 a0001c0008 a0001c0024 others(8): Show a0001c0001 a0001c0008 a0001c0024 a0001c0046 a0003c0004 a0005c0019 a0006c0018 a0009c0016 a0013c0047 a0025c0045 a0031c0048	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0025 a0001c0008t0004 a0001c0024t0001 a0001c0046t0009 a0003c0004t0002 a0003c0004t0010 a0005c0019t0003 a0005c0019t0008 a0006c0018t0001 a0006c0018t0017 a0009c0016t0001 a0009c0016t0008 a0013c0047t0001 a0025c0045t0021 a0031c0048t0033	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0060 others(42): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0349 a0001c0001t0003g0014 a0001c0001t0005g0144 a0001c0001t0005g0183 a0001c0001t0005g0185 a0001c0001t0008g0013 a0001c0001t0008g0159 a0001c0001t0011g0162 a0001c0001t0012g0093 a0001c0001t0025g0341 a0001c0008t0004g0165 a0001c0008t0004g0184 a0001c0024t0001g0203 a0001c0046t0009g0097 a0003c0004t0002g0098 a0003c0004t0010g0090 a0003c0004t0010g0091 a0005c0019t0003g0088 a0005c0019t0003g0226 a0005c0019t0008g0160 a0006c0018t0001g0335 a0006c0018t0001g0339 a0006c0018t0017g0161 a0009c0016t0001g0253 a0009c0016t0008g0333 a0009c0016t0008g0334 a0009c0016t0008g0342 a0013c0047t0001g0343 a0025c0045t0021g0338 a0031c0048t0033g0035	47	74	0.6351	-28	c.309 others(45): Show c.309+1012_309+1039delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241207027	CACAGGTG others(21): Show CACAGGTGGACAGGAGTGCTCCCAGGCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(37): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG01099.hp1 HG01928.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp1 HG02523.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03834.hp1 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18971.hp1 NA18974.hp2 NA18981.hp1 NA18999.hp1 NA19010.hp1 NA19043.hp1 NA19055.hp2 NA19070.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0001 a0001c0008 a0001c0051 others(4): Show a0001c0001 a0001c0008 a0001c0051 a0003c0004 a0003c0049 a0006c0006 a0009c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0008t0004 a0001c0051t0007 a0003c0004t0001 a0003c0004t0002 a0003c0004t0010 a0003c0004t0029 a0003c0049t0010 a0006c0006t0001 a0006c0006t0009 a0009c0016t0008	a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0274 others(32): Show a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0005g0271 a0001c0001t0012g0026 a0001c0001t0016g0116 a0001c0008t0004g0269 a0001c0051t0007g0266 a0003c0004t0001g0273 a0003c0004t0001g0278 a0003c0004t0002g0004 a0003c0004t0002g0262 a0003c0004t0002g0265 a0003c0004t0002g0267 a0003c0004t0002g0268 a0003c0004t0002g0272 a0003c0004t0002g0275 a0003c0004t0002g0276 a0003c0004t0002g0277 a0003c0004t0002g0279 a0003c0004t0002g0281 a0003c0004t0010g0107 a0003c0004t0010g0110 a0003c0004t0010g0111 a0003c0004t0029g0280 a0003c0049t0010g0263 a0006c0006t0001g0006 a0006c0006t0009g0006 a0006c0006t0009g0108 a0006c0006t0009g0112 a0006c0006t0009g0113 a0006c0006t0009g0114 a0006c0006t0009g0117 a0006c0006t0009g0119 a0009c0016t0008g0115	40	393	0.1018	-28	c.981 others(43): Show c.981-515_981-488delGGTGGACAGGAGTGCTCCCAGGCTGACA	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO9_chr11_412938_447011	428989	AGGGACAC others(21): Show AGGGACACGCCTCACGGGTGGACAGACAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	284	0.0035	-28	c.916 others(43): Show c.916-191_916-164delGTGTCTGTCCACCCGTGAGGCGTGTCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	11/22			chr11	TogoVar
ANOS1_chrX_8523874_8737137	8576467	TACACACA others(21): Show TACACACACACACACACACACACATACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	220	0.0045	-28	c.857 others(45): Show c.857-5791_857-5764delGTGTATGTGTGTGTGTGTGTGTGTGTGT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	6/13			chrX	TogoVar
ANOS1_chrX_8523874_8737137	8685582	GAAAGAGA others(21): Show GAAAGAGAAAGAAAGGAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0196 a0002c0002t0006g0196	1	223	0.0045	-28	c.255 others(47): Show c.255+14088_255+14115delTTCTTTCTTTCTTCCTTTCTTTCTCT TT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	2/13			chrX	TogoVar
ANTXR1_chr2_69008179_69254327	69096286	AAGGGAGG others(21): Show AAGGGAGGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 HG02717.hp1 others(1): Show HG00280.hp2 HG01261.hp2 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0162 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0162 a0001c0001t0001g0192 a0001c0001t0004g0202	4	132	0.0303	-28	c.703 others(45): Show c.703+5371_703+5398delGAGGAAGGGAGGAAGGGAGGAAGGGAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA10_chr4_168087537_168192736	168155773	CATATATT others(21): Show CATATATTATATATTATATATAATATATA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	174	0.0057	-28	c.196 others(45): Show c.196-6748_196-6721delTATATATTATATATAATATATAATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA13_chr8_123675794_123742393	123722342	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02074.hp2 HG02148.hp1 HG01255.hp2 HG02074.hp2 HG02148.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0002 a0003c0003t0003	a0003c0003t0002g0140 a0003c0003t0003g0175 a0003c0003t0003g0183 a0003c0003t0002g0140 a0003c0003t0003g0175 a0003c0003t0003g0183	3	89	0.0337	-28	c.16- others(43): Show c.16-9617_16-9590delCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ANXA13	ENSG00000104537.17	transcript	ENST00000419625.6	protein_coding	1/10			chr8	TogoVar
ANXA2_chr15_60342151_60402986	60366815	GGTCGGCC others(21): Show GGTCGGCCAGCCGCCCCGTCCGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	257	0.0039	-28	c.149 others(45): Show c.149-2320_149-2293delTCCCTCCCGGACGGGGCGGCTGGCCGAC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
AOAH_chr7_36507941_36729494	36678550	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	52	0.0192	-28	c.224 others(45): Show c.224-4569_224-4542delACACACACACACACACACACACACACAC	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36716970	TAATAAAT others(21): Show TAATAAATAAATAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	63	0.0159	-28	c.127 others(45): Show c.127+7024_127+7051delTATTTATTTATTTATTTATTTATTTATT	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	1/20			chr7	TogoVar
AOX1_chr2_200581014_200676495	200630548	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02280.hp2 HG02615.hp2 others(10): Show HG00733.hp1 HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0014 a0003c0003 a0001c0001 a0001c0014 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0003c0003t0006	a0001c0001t0001g0004 a0001c0001t0001g0273 a0001c0001t0001g0290 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0273 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0014t0001g0352 a0003c0003t0006g0328	13	40	0.3250	-28	c.222 others(47): Show c.2221+3124_2221+3151delAGGAAGGAAGGAAGGAAGGAAGGAAG GA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M2_chr19_10567671_10592312	10584311	TGGCTCAC others(21): Show TGGCTCACGCCTGTGATCCCAGCATTTTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	392	0.0026	-28	c.43- others(41): Show c.43-269_43-242delCAAAATGCTGGGATCACAGGCGTGAGCC	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585268	GAAAGAAA others(21): Show GAAAGAAAGAAGAAAAAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 NA20805.hp2 HG01081.hp2 HG01168.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0002t0003g0322 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0002t0003g0322	3	354	0.0085	-28	c.43- others(43): Show c.43-1226_43-1199delTCTTTCTTTCTTTTTTTCTTCTTTCTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S3_chr2_223750326_223842582	223780302	TATATATA others(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG03453.hp1 others(1): Show HG02717.hp2 HG03195.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0036 a0001c0001t0012 a0001c0001t0036	a0001c0001t0012g0099 a0001c0001t0012g0107 a0001c0001t0012g0182 others(1): Show a0001c0001t0012g0099 a0001c0001t0012g0107 a0001c0001t0012g0182 a0001c0001t0036g0106	4	318	0.0126	-28	c.4-2 others(41): Show c.4-2461_4-2434delCTCTCTCTCTCTCTCTCTCTCTATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A2_chr11_920870_1017240	990426	CGGGAGCC others(21): Show CGGGAGCCTCGTTCCTGATTGTTGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19240.hp1 HG01243.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0259 a0001c0004t0009g0260 a0001c0004t0009g0259 a0001c0004t0009g0260	2	266	0.0075	-28	c.126 others(47): Show c.1269+1740_1269+1767delGAGCCTCGTTCCTGATTGTTGTTCTG GG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3B2_chr15_82654281_82714875	82665376	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 NA19030.hp2 HG03130.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159	3	30	0.1000	-28	c.197 others(43): Show c.1971+53_1972-74delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89844245	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02717.hp1 others(2): Show HG02622.hp2 HG02630.hp1 HG02717.hp1 HG03225.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0189 a0001c0001t0002g0248 a0001c0001t0002g0254 others(2): Show a0001c0001t0002g0189 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0004g0232	5	301	0.0166	-28	c.346 others(45): Show c.346-6551_346-6524delGAGAAAGAAAGAAAGAAAGAAAGAAAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858507	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	278	0.0036	-28	c.345 others(47): Show c.345+12940_345+12967delTTCTTTCTTTCTCTCTCTCTCTCTCT CT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858511	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02055.hp2 HG02895.hp1 others(4): Show HG01515.hp2 HG02055.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0001 a0001c0001t0002 a0001c0001t0029	a0001c0001t0001g0171 a0001c0001t0002g0157 a0001c0001t0002g0158 others(4): Show a0001c0001t0001g0171 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0029g0178	7	310	0.0226	-28	c.345 others(47): Show c.345+12936_345+12963delTTCTTTCTTTCTTTCTCTCTCTCTCT CT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4S1_chr14_31020649_31101450	31058527	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0262 a0001c0001t0009g0262	1	88	0.0114	-28	c.-71 others(45): Show c.-71-7577_-71-7550delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5Z1_chr7_4770623_4799397	4781002	CAGCTCAG others(21): Show CAGCTCAGGGAATCAGCGAATTTATCTCG	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	338	0.0030	-28	c.42- others(41): Show c.42-170_42-143delCTCAGGGAATCAGCGAATTTATCTCGAG	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
APBA1_chr9_69422532_69677371	69523477	GTATATAT others(21): Show GTATATATATATATATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01361.hp1 HG02004.hp1 others(21): Show HG00597.hp1 HG01361.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02300.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp1 HG04228.hp2 NA18612.hp2 NA18944.hp1 NA18953.hp1 NA18982.hp2 NA18985.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0016	a0002c0002t0001g0011 a0002c0002t0001g0100 a0002c0002t0002g0116 others(21): Show a0002c0002t0001g0011 a0002c0002t0001g0100 a0002c0002t0002g0116 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0023 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0131 a0002c0002t0003g0139 a0002c0002t0003g0146 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0163 a0002c0002t0003g0183 a0002c0002t0003g0189 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0196 a0002c0002t0003g0198 a0002c0002t0016g0168	24	174	0.1379	-28	c.-69 others(45): Show c.-69-6226_-69-6199delTATATATACATATATATATATATATATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28969128	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(61): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01071.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01891.hp2 HG01978.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18940.hp2 NA18944.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp2 NA18981.hp1 NA18986.hp2 NA18990.hp2 NA19002.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0014 a0002c0017 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0001t0027 a0001c0001t0042 a0001c0001t0044 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0020 a0002c0002t0021 a0002c0002t0041 a0002c0002t0045 a0002c0003t0013 a0002c0004t0004 a0002c0004t0022 a0002c0006t0016 a0002c0014t0035 a0002c0017t0034 a0003c0008t0002 a0003c0008t0003	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(61): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0002g0112 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0002g0195 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0004g0017 a0001c0001t0004g0037 a0001c0001t0004g0065 a0001c0001t0005g0077 a0001c0001t0007g0136 a0001c0001t0007g0156 a0001c0001t0007g0162 a0001c0001t0008g0163 a0001c0001t0008g0194 a0001c0001t0019g0179 a0001c0001t0027g0011 a0001c0001t0042g0097 a0001c0001t0044g0184 a0002c0002t0001g0050 a0002c0002t0002g0095 a0002c0002t0002g0129 a0002c0002t0003g0101 a0002c0002t0003g0167 a0002c0002t0004g0013 a0002c0002t0004g0025 a0002c0002t0006g0108 a0002c0002t0006g0124 a0002c0002t0007g0137 a0002c0002t0007g0140 a0002c0002t0011g0171 a0002c0002t0020g0133 a0002c0002t0021g0040 a0002c0002t0041g0119 a0002c0002t0045g0113 a0002c0003t0013g0081 a0002c0004t0004g0069 a0002c0004t0022g0080 a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0014t0035g0191 a0002c0017t0034g0177 a0003c0008t0002g0141 a0003c0008t0003g0126	64	73	0.8767	-28	c.-94 others(47): Show c.-94-26597_-94-26570delCTTTCTTTCTTTCTTTCTTTCTTTCT TT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26508583	GCTAAATC others(21): Show GCTAAATCACATAACTGTGATTTAGCTTA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp2 NA20805.hp1 HG01175.hp1 HG01346.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0176 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0176	3	355	0.0085	-28	c.532 others(45): Show c.532-3140_532-3113delGCTTACTAAATCACATAACTGTGATTTA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40982269	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp1 HG02486.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0020 a0002c0001t0001 a0001c0004t0020 a0002c0001t0001	a0001c0004t0020g0161 a0002c0001t0001g0077 a0001c0004t0020g0161 a0002c0001t0001g0077	2	178	0.0112	-28	c.835 others(47): Show c.835+31286_835+31313delCTTCCTTCCTTCCTTCTTTCTTTCTT TC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982277	AGAAAGAA others(21): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03516.hp1 HG01981.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0002c0001t0008 a0001c0004t0004 a0002c0001t0008	a0001c0004t0004g0130 a0002c0001t0008g0156 a0001c0004t0004g0130 a0002c0001t0008g0156	2	165	0.0121	-28	c.835 others(47): Show c.835+31278_835+31305delCTTCCTTCCTTCCTTCCTTCCTTCTT TC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982330	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	153	0.0065	-28	c.835 others(47): Show c.835+31225_835+31252delCTTCCTTCCTTCCTTCCTTCCTTCCT TC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
API5_chr11_43306996_43349529	43308126	ATTGGCTG others(21): Show ATTGGCTGGGCACAGTGGCTCACGCCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	382	0.0026	-28	c.-40 others(39): Show c.-4001_-3974delTTGGCTGGGCACAGTGGCTCACGCCTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		3869		chr11	TogoVar
APIP_chr11_34877295_34921379	34902962	CTAATCCT others(21): Show CTAATCCTGGGAAATGATTTAACTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01168.hp1 others(75): Show HG00423.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG02015.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19078.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0034 others(40): Show a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0008g0097	78	354	0.2203	-28	c.58- others(43): Show c.58-7880_58-7853delTAAACAGTTAAATCATTTCCCAGGATTA	APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	1/6			chr11	TogoVar
APLF_chr2_68462585_68585162	68517224	AAATATAT others(21): Show AAATATATTAATATATGTCATTACTATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01167.hp2 others(64): Show HG00323.hp1 HG00741.hp1 HG01167.hp2 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18978.hp1 NA18984.hp1 NA18984.hp2 NA19005.hp1 NA19043.hp1 NA19058.hp1 NA19068.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0009 a0010 a0012	a0001c0001 a0002c0002 a0002c0011 others(6): Show a0001c0001 a0002c0002 a0002c0011 a0004c0004 a0006c0007 a0006c0013 a0009c0008 a0010c0014 a0012c0015	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0011t0002 a0004c0004t0003 a0006c0007t0006 a0006c0007t0017 a0006c0013t0016 a0009c0008t0006 a0010c0014t0009 a0012c0015t0013	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(62): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0011g0070 a0001c0001t0011g0082 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0006g0160 a0002c0002t0006g0161 a0002c0002t0006g0162 a0002c0002t0006g0163 a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0008g0026 a0002c0002t0009g0003 a0002c0011t0002g0049 a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 a0004c0004t0003g0012 a0004c0004t0003g0013 a0004c0004t0003g0014 a0004c0004t0003g0015 a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0019 a0004c0004t0003g0020 a0004c0004t0003g0021 a0006c0007t0006g0002 a0006c0007t0006g0033 a0006c0007t0017g0023 a0006c0013t0016g0165 a0009c0008t0006g0027 a0010c0014t0009g0032 a0012c0015t0013g0164	67	171	0.3918	-28	c.622 others(45): Show c.622+3644_622+3671delGTCATTACTATATAATATATTAATATAT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOA1_chr11_116830751_116842622	116831189	ATTTCTTT others(21): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	220	0.0045	-28	c.45 others(39): Show c.4591_*4618delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4561		chr11	TogoVar
APOC3_chr11_116824907_116838072	116831189	ATTTCTTT others(21): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	229	0.0044	-28	c.179 others(43): Show c.179+334_179+361delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOOL_chrX_84998877_85098315	85088141	TATATGTA others(21): Show TATATGTATAAATACATACATATTTATAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02109.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0039 a0001c0001t0038 a0001c0001t0039	a0001c0001t0038g0022 a0001c0001t0039g0023 a0001c0001t0038g0022 a0001c0001t0039g0023	2	254	0.0079	-28	c.46 others(37): Show c.468_*495delGTATAAATACATACATATTTATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	468	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829571	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	143	0.0070	-28	c.40 others(39): Show c.4043_*4070delATATATATATATATATATATATATATTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3781		chrX	TogoVar
APPL2_chr12_105168300_105241174	105203010	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(109): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0009	a0001c0001 a0001c0010 a0004c0008 others(2): Show a0001c0001 a0001c0010 a0004c0008 a0008c0013 a0009c0012	a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(6): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0010t0001 a0004c0008t0001 a0008c0013t0001 a0009c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(97): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0013g0047 a0001c0001t0016g0252 a0001c0001t0018g0293 a0001c0001t0020g0260 a0001c0010t0001g0261 a0001c0010t0001g0332 a0004c0008t0001g0343 a0008c0013t0001g0286 a0009c0012t0001g0281	112	128	0.8750	-28	c.704 others(43): Show c.704+665_704+692delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20			chr12	TogoVar
AQP8_chr16_25211947_25233932	25216193	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-28	c.-85 others(37): Show c.-852_-825delTTTCTTTCTTTCTTTCTTTCTTTTTCTT	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		753		chr16	TogoVar

Search by Variant

Search

Search Results