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
ABCA5_chr17_69239311_69332133	69293833	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03942.hp2 HG02258.hp1 HG03942.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0003c0003t0003 a0001c0002t0001 a0003c0003t0003	a0001c0002t0001g0046 a0003c0003t0003g0021 a0001c0002t0001g0046 a0003c0003t0003g0021	2	250	0.0080	16	c.149 others(33): Show c.1495+806_1495+821dupACACACACACACACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298221	A A	AAGGTAGG others(9): Show AAGGTAGGTAGGTAGGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG01433.hp2 others(9): Show HG01123.hp2 HG01258.hp2 HG01433.hp2 HG02074.hp1 HG02257.hp1 HG02258.hp1 NA18972.hp1 NA19012.hp2 NA19062.hp2 NA19081.hp1 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0001c0017	a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 a0001c0017t0001	a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0063 others(9): Show a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0063 a0001c0002t0001g0081 a0001c0002t0001g0097 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0127 a0001c0006t0001g0106 a0001c0008t0001g0048 a0001c0008t0001g0049 a0001c0017t0001g0158	12	314	0.0382	16	c.126 others(33): Show c.1268-863_1268-862insACCTACCTACCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGAAGG others(9): Show TAGGAAGGTAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01515.hp2 HG01891.hp1 others(10): Show HG01243.hp1 HG01515.hp2 HG01891.hp1 HG02258.hp2 HG02486.hp1 HG03098.hp2 HG03516.hp2 NA18959.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1	a0002 a0011 a0002 a0011	a0002c0001 a0011c0020 a0002c0001 a0011c0020	a0002c0001t0002 a0002c0001t0004 a0002c0001t0009 others(1): Show a0002c0001t0002 a0002c0001t0004 a0002c0001t0009 a0011c0020t0004	a0002c0001t0002g0244 a0002c0001t0002g0254 a0002c0001t0004g0167 others(10): Show a0002c0001t0002g0244 a0002c0001t0002g0254 a0002c0001t0004g0167 a0002c0001t0004g0170 a0002c0001t0004g0174 a0002c0001t0004g0175 a0002c0001t0004g0181 a0002c0001t0004g0315 a0002c0001t0004g0316 a0002c0001t0009g0258 a0002c0001t0009g0266 a0002c0001t0009g0308 a0011c0020t0004g0179	13	210	0.0619	16	c.126 others(33): Show c.1268-871_1268-870insTCCTTCCTACCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGTAGG others(9): Show TAGGTAGGTAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19074.hp2 NA18980.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0126 a0001c0002t0001g0133	2	199	0.0101	16	c.126 others(33): Show c.1268-871_1268-870insTCCTTCCTACCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGTAGG others(9): Show TAGGTAGGTAGGTAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(27): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01361.hp2 HG02004.hp1 HG02155.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp1 HG03139.hp1 HG03239.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18945.hp2 NA18948.hp1 NA18957.hp1 NA18982.hp1 NA18985.hp1 NA18993.hp1 NA18999.hp2 NA19076.hp2 NA19077.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0001c0024	a0001c0002t0001 a0001c0006t0001 a0001c0006t0018 others(2): Show a0001c0002t0001 a0001c0006t0001 a0001c0006t0018 a0001c0008t0001 a0001c0024t0001	a0001c0002t0001g0003 a0001c0002t0001g0045 a0001c0002t0001g0061 others(26): Show a0001c0002t0001g0003 a0001c0002t0001g0045 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0214 a0001c0006t0001g0110 a0001c0006t0018g0093 a0001c0008t0001g0084 a0001c0024t0001g0144	30	227	0.1322	16	c.126 others(33): Show c.1268-871_1268-870insTCCTACCTACCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298316	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01109.hp1 others(36): Show HG00140.hp2 HG00280.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01891.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02165.hp1 HG02280.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp1 NA18948.hp2 NA18959.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19085.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0001c0004 a0001c0006 others(4): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0002c0001 a0012c0015	a0001c0002t0001 a0001c0002t0013 a0001c0004t0014 others(7): Show a0001c0002t0001 a0001c0002t0013 a0001c0004t0014 a0001c0004t0017 a0001c0004t0027 a0001c0006t0001 a0001c0008t0001 a0001c0010t0010 a0002c0001t0004 a0012c0015t0001	a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0058 others(36): Show a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0141 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0013g0051 a0001c0002t0013g0085 a0001c0004t0014g0321 a0001c0004t0017g0322 a0001c0004t0027g0319 a0001c0006t0001g0104 a0001c0006t0001g0105 a0001c0008t0001g0049 a0001c0010t0010g0333 a0002c0001t0004g0169 a0002c0001t0004g0170 a0002c0001t0004g0172 a0002c0001t0004g0188 a0002c0001t0004g0190 a0002c0001t0004g0191 a0002c0001t0004g0315 a0012c0015t0001g0071	39	106	0.3679	16	c.126 others(33): Show c.1268-973_1268-958dupTCCTTCCTTCCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69299471	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01358.hp1 others(4): Show HG00323.hp2 HG01106.hp2 HG01358.hp1 HG02145.hp1 HG02257.hp1 HG03654.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0005 a0001c0002t0001 a0001c0004t0005	a0001c0002t0001g0044 a0001c0002t0001g0100 a0001c0002t0001g0101 others(4): Show a0001c0002t0001g0044 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0133 a0001c0004t0005g0325 a0001c0004t0005g0327 a0001c0004t0005g0329	7	78	0.0897	16	c.126 others(35): Show c.1267+1652_1267+1667dupGTGTGTGTGTGTGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303809	C C	CACACACA others(9): Show CACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0325 a0001c0004t0005g0325	1	238	0.0042	16	c.930 others(31): Show c.930+859_930+860insATATATATATGTGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18940.hp1 NA18952.hp1 others(4): Show HG02523.hp1 NA18940.hp1 NA18952.hp1 NA18971.hp2 NA19062.hp1 NA19084.hp2 NA19089.hp1	a0002 a0007 a0024 a0002 a0007 a0024	a0002c0002 a0007c0006 a0024c0023 a0002c0002 a0007c0006 a0024c0023	a0002c0002t0002 a0007c0006t0002 a0024c0023t0002 a0002c0002t0002 a0007c0006t0002 a0024c0023t0002	a0002c0002t0002g0171 a0002c0002t0002g0175 a0002c0002t0002g0183 others(4): Show a0002c0002t0002g0171 a0002c0002t0002g0175 a0002c0002t0002g0183 a0002c0002t0002g0239 a0002c0002t0002g0244 a0007c0006t0002g0057 a0024c0023t0002g0188	7	50	0.1400	16	c.393 others(33): Show c.3937+116_3937+131dupATATATATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69143833	G G	GTAGATAG others(9): Show GTAGATAGATAGATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0007 a0005c0005t0002g0007	1	70	0.0143	16	c.-21 others(27): Show c.-2135_-2134insTCTATCTATCTATCTA	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		1939		chr17	TogoVar
ABCA7_chr19_1035107_1070572	1059248	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	11	0.0909	16	c.546 others(33): Show c.5463+182_5463+197dupATTTATTTATTTATTT	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68862565	C C	CCACACAC others(9): Show CCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02135.hp1 HG02145.hp2 others(32): Show HG00597.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02717.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18950.hp2 NA18960.hp1 NA18962.hp1 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19091.hp1 NA20129.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0009 a0014 a0015 a0023 a0025 a0032	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0003c0029 a0004c0007 a0009c0010 a0014c0027 a0015c0030 a0023c0020 a0025c0036 a0032c0021	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0003c0029t0001 a0004c0007t0001 a0009c0010t0001 a0014c0027t0001 a0015c0030t0001 a0023c0020t0001 a0025c0036t0001 a0032c0021t0001	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 others(32): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0154 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0139 a0001c0005t0001g0141 a0001c0005t0001g0142 a0003c0029t0001g0106 a0004c0007t0001g0188 a0004c0007t0001g0257 a0009c0010t0001g0132 a0014c0027t0001g0107 a0015c0030t0001g0104 a0023c0020t0001g0144 a0025c0036t0001g0157 a0032c0021t0001g0140	35	163	0.2147	16	c.55 others(27): Show c.5519_*5520insTGTGTGTGTGTGTGTG	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		4723		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(9): Show TATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG01361.hp2 others(11): Show HG00639.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG02486.hp1 HG02717.hp1 HG02818.hp1 HG03195.hp2 HG03831.hp1 NA18980.hp1 NA18991.hp1 NA18999.hp2 NA19063.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0016 a0029	a0001c0002 a0001c0003 a0001c0011 others(7): Show a0001c0002 a0001c0003 a0001c0011 a0001c0048 a0002c0006 a0002c0046 a0003c0008 a0005c0009 a0016c0015 a0029c0043	a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0001c0048t0001 a0002c0006t0001 a0002c0046t0001 a0003c0008t0001 a0005c0009t0001 a0016c0015t0001 a0029c0043t0001	a0001c0002t0001g0119 a0001c0002t0001g0181 a0001c0002t0001g0183 others(11): Show a0001c0002t0001g0119 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0003t0001g0068 a0001c0003t0001g0072 a0001c0011t0001g0146 a0001c0048t0001g0166 a0002c0006t0001g0160 a0002c0046t0001g0052 a0003c0008t0001g0108 a0003c0008t0001g0110 a0005c0009t0001g0115 a0016c0015t0001g0013 a0029c0043t0001g0261	14	101	0.1386	16	c.314 others(33): Show c.3145-406_3145-405insGGATATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887913	T T	TATATATA others(9): Show TATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0007 a0002c0034t0001g0007	1	266	0.0038	16	c.314 others(33): Show c.3145-408_3145-407insGGATATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935262	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	26	0.0385	16	c.466 others(33): Show c.466+1673_466+1688dupCACACACACACACACA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935540	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp2 HG01952.hp2 others(11): Show HG00280.hp2 HG01884.hp2 HG01952.hp2 HG02071.hp2 HG02738.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03831.hp2 NA18951.hp2 NA18960.hp2 NA18994.hp1 NA19083.hp1 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0031	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0034 a0002c0053 a0003c0008 a0003c0029 a0008c0032 a0031c0041	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0002c0034t0001 a0002c0053t0001 a0003c0008t0001 a0003c0029t0001 a0008c0032t0005 a0031c0041t0001	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0002g0045 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0002g0045 a0001c0002t0001g0040 a0001c0003t0001g0057 a0001c0003t0001g0088 a0001c0005t0001g0142 a0001c0005t0001g0148 a0002c0034t0001g0007 a0002c0053t0001g0050 a0003c0008t0001g0110 a0003c0029t0001g0106 a0008c0032t0005g0097 a0031c0041t0001g0009	14	104	0.1346	16	c.466 others(33): Show c.466+1395_466+1410dupTATATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0162 a0004c0007t0001g0162	1	169	0.0059	16	c.-5- others(31): Show c.-5-2321_-5-2320insGTGTGTATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(9): Show TATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0135 a0002c0022t0001g0135	1	169	0.0059	16	c.-5- others(31): Show c.-5-2321_-5-2320insGTATGTATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03239.hp1 NA19065.hp2 others(1): Show HG02818.hp2 HG03239.hp1 NA19065.hp2 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0026 a0001c0001 a0003c0026	a0001c0001t0001 a0003c0026t0001 a0001c0001t0001 a0003c0026t0001	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0035 a0003c0026t0001g0114	4	172	0.0233	16	c.-5- others(31): Show c.-5-2321_-5-2320insGTGTATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958518	A A	AATTATAT others(9): Show AATTATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	266	0.0038	16	c.-34 others(27): Show c.-3467_-3466insATATATAATATATAAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3127		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958599	T T	TATAATTA others(9): Show TATAATTATATAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02559.hp1 others(9): Show HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03195.hp1 HG03490.hp2 HG03540.hp1 HG03831.hp2 NA18906.hp1	a0001 a0015 a0023 a0001 a0015 a0023	a0001c0004 a0001c0005 a0001c0011 others(2): Show a0001c0004 a0001c0005 a0001c0011 a0015c0030 a0023c0020	a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 others(2): Show a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0015c0030t0001 a0023c0020t0001	a0001c0004t0001g0123 a0001c0005t0001g0141 a0001c0005t0001g0142 others(9): Show a0001c0004t0001g0123 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0145 a0001c0005t0001g0147 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0011t0001g0146 a0015c0030t0001g0104 a0023c0020t0001g0144	12	272	0.0441	16	c.-35 others(27): Show c.-3548_-3547insTATTTTATATAATTAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3208		chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989256	T T	TCTCTCAC others(9): Show TCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19091.hp2 NA18953.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0146 a0002c0002t0002g0117 a0002c0002t0002g0146	2	118	0.0169	16	c.395 others(33): Show c.3956-139_3956-138insTGTGTGTGTGTGAGAG	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69041729	T T	TTATCTAT others(9): Show TTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01975.hp1 HG02055.hp1 others(6): Show HG01517.hp2 HG01975.hp1 HG02055.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG04199.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0001c0001t0001 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0167 a0001c0001t0001g0201 a0001c0001t0001g0238 others(5): Show a0001c0001t0001g0167 a0001c0001t0001g0201 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0006g0008 a0002c0002t0002g0075 a0002c0002t0002g0136	9	42	0.2143	16	c.800 others(33): Show c.800+1744_800+1759dupGATAGATAGATAGATA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	6/38			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229550525	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19240.hp1 NA21309.hp2 HG03471.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0002c0003t0007 a0001c0002t0001 a0002c0003t0003 a0002c0003t0007	a0001c0002t0001g0044 a0002c0003t0003g0028 a0002c0003t0007g0024 a0001c0002t0001g0044 a0002c0003t0003g0028 a0002c0003t0007g0024	3	115	0.0261	16	c.518 others(33): Show c.518-1107_518-1092dupTTTTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	1/12			chr1	TogoVar
ABCB11_chr2_168915781_169036324	169003319	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18953.hp1 NA19064.hp1 HG02040.hp1 NA18953.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0008 a0001c0007 a0002c0008	a0001c0007t0001 a0002c0008t0032 a0001c0007t0001 a0002c0008t0032	a0001c0007t0001g0283 a0001c0007t0001g0288 a0002c0008t0032g0282 a0001c0007t0001g0283 a0001c0007t0001g0288 a0002c0008t0032g0282	3	297	0.0101	16	c.390 others(33): Show c.390-6598_390-6597insACACACACACACACAC	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	5/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87530790	A A	AAAGAAAG others(9): Show AAAGAAAGCAAGAAAGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0099 a0001c0001t0001g0101	2	302	0.0066	16	c.268 others(33): Show c.2685+488_2685+503dupGCTTTCTTGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530838	C C	CAAGAAAG others(9): Show CAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01975.hp2 others(3): Show HG00323.hp1 HG00642.hp2 HG01975.hp2 HG03491.hp2 NA19005.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0005t0005	a0001c0001t0001g0118 a0001c0001t0001g0214 a0001c0001t0002g0274 others(3): Show a0001c0001t0001g0118 a0001c0001t0001g0214 a0001c0001t0002g0274 a0001c0001t0004g0296 a0001c0001t0007g0078 a0001c0005t0005g0025	6	232	0.0259	16	c.268 others(33): Show c.2685+440_2685+455dupTCTTTCTTTCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530838	C C	CAAGAAAG others(9): Show CAAGAAAGCAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp2 HG01071.hp1 others(7): Show HG00544.hp1 HG01069.hp2 HG01071.hp1 HG02965.hp2 HG03041.hp2 NA18940.hp2 NA19004.hp1 NA19030.hp1 NA19065.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0005t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0003 a0001c0006t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0112 a0001c0001t0002g0337 a0001c0005t0003g0003 others(5): Show a0001c0001t0001g0112 a0001c0001t0002g0337 a0001c0005t0003g0003 a0001c0006t0004g0009 a0002c0002t0001g0114 a0002c0002t0001g0127 a0002c0002t0001g0210 a0002c0002t0002g0138	10	236	0.0424	16	c.268 others(33): Show c.2685+455_2685+456insTCTTTCTTGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87589805	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01952.hp1 HG01978.hp1 others(12): Show HG01496.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02129.hp2 HG02155.hp2 HG02622.hp1 HG02965.hp1 HG02970.hp1 HG03225.hp1 HG03486.hp2 NA18940.hp1 NA18979.hp2 NA18994.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0020 a0001c0001 a0001c0004 a0001c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0020 a0001c0020t0001	a0001c0001t0001g0056 a0001c0001t0001g0181 a0001c0001t0006g0058 others(12): Show a0001c0001t0001g0056 a0001c0001t0001g0181 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0008g0055 a0001c0004t0001g0043 a0001c0004t0002g0041 a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0004t0002g0052 a0001c0004t0002g0053 a0001c0004t0002g0054 a0001c0004t0002g0107 a0001c0004t0020g0057 a0001c0020t0001g0042	15	215	0.0698	16	c.118 others(33): Show c.118-4141_118-4126dupTCTCTCTCTCTCTCTC	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20615582	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0056 a0056	a0056c0074 a0056c0074	a0056c0074t0005 a0056c0074t0005	a0056c0074t0005g0132 a0056c0074t0005g0132	1	75	0.0133	16	c.-27 others(25): Show c.-277_-276insGTGTGTGTGTGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding		84		chr7	TogoVar
ABCB5_chr7_20610667_20762008	20629145	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03688.hp1 HG04184.hp1 others(3): Show HG01891.hp2 HG03688.hp1 HG04184.hp1 NA18906.hp2 NA18974.hp1 NA19077.hp2	a0001 a0005 a0011 others(2): Show a0001 a0005 a0011 a0026 a0028	a0001c0001 a0005c0062 a0011c0013 others(2): Show a0001c0001 a0005c0062 a0011c0013 a0026c0089 a0028c0034	a0001c0001t0001 a0001c0001t0010 a0005c0062t0001 others(3): Show a0001c0001t0001 a0001c0001t0010 a0005c0062t0001 a0011c0013t0002 a0026c0089t0004 a0028c0034t0001	a0001c0001t0001g0255 a0001c0001t0010g0256 a0005c0062t0001g0269 others(3): Show a0001c0001t0001g0255 a0001c0001t0010g0256 a0005c0062t0001g0269 a0011c0013t0002g0113 a0026c0089t0004g0075 a0028c0034t0001g0114	6	26	0.2308	16	c.259 others(31): Show c.259+332_259+347dupGTGTGTGTGTGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20665724	A A	AAGATAGA others(9): Show AAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02615.hp2 HG03688.hp1 HG00621.hp2 HG02615.hp2 HG03688.hp1	a0002 a0028 a0032 a0002 a0028 a0032	a0002c0012 a0028c0034 a0032c0082 a0002c0012 a0028c0034 a0032c0082	a0002c0012t0001 a0028c0034t0001 a0032c0082t0001 a0002c0012t0001 a0028c0034t0001 a0032c0082t0001	a0002c0012t0001g0123 a0028c0034t0001g0114 a0032c0082t0001g0108 a0002c0012t0001g0123 a0028c0034t0001g0114 a0032c0082t0001g0108	3	157	0.0191	16	c.170 others(35): Show c.1707+7076_1707+7091dupTAGATAGATAGATAGA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20665766	G G	GATAGATA others(9): Show GATAGATAGATAGAGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02055.hp1 HG00438.hp1 HG00438.hp2 HG02055.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0053 a0008c0027 a0001c0001 a0003c0053 a0008c0027	a0001c0001t0001 a0003c0053t0001 a0008c0027t0001 a0001c0001t0001 a0003c0053t0001 a0008c0027t0001	a0001c0001t0001g0208 a0003c0053t0001g0237 a0008c0027t0001g0162 a0001c0001t0001g0208 a0003c0053t0001g0237 a0008c0027t0001g0162	3	356	0.0084	16	c.170 others(35): Show c.1707+7091_1707+7092insTAGATAGATAGAGATA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20691582	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG01192.hp2 others(32): Show HG00642.hp1 HG01192.hp1 HG01192.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02109.hp2 HG02293.hp2 HG02451.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03130.hp1 NA18522.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18970.hp2 NA18974.hp2 NA18983.hp2 NA19057.hp2 NA19067.hp1 NA19082.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0007 a0008 a0010 a0011 a0013 a0014 a0025 a0028 a0030 a0041 a0050 a0064	a0001c0001 a0001c0005 a0002c0003 others(15): Show a0001c0001 a0001c0005 a0002c0003 a0003c0002 a0003c0010 a0007c0011 a0007c0032 a0008c0009 a0010c0017 a0011c0080 a0013c0023 a0014c0024 a0025c0030 a0028c0034 a0030c0033 a0041c0092 a0050c0059 a0064c0054	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0003t0003 a0003c0002t0001 a0003c0002t0002 a0003c0010t0002 a0007c0011t0001 a0007c0032t0003 a0008c0009t0001 a0010c0017t0003 a0011c0080t0001 a0013c0023t0001 a0014c0024t0004 a0025c0030t0005 a0028c0034t0018 a0030c0033t0003 a0041c0092t0005 a0050c0059t0003 a0064c0054t0001	a0001c0001t0001g0208 a0001c0001t0001g0344 a0001c0001t0002g0291 others(32): Show a0001c0001t0001g0208 a0001c0001t0001g0344 a0001c0001t0002g0291 a0001c0005t0001g0224 a0002c0003t0003g0004 a0002c0003t0003g0016 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0031 a0002c0003t0003g0038 a0002c0003t0003g0042 a0002c0003t0003g0050 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0156 a0003c0002t0001g0193 a0003c0002t0002g0159 a0003c0010t0002g0149 a0007c0011t0001g0086 a0007c0011t0001g0089 a0007c0032t0003g0045 a0008c0009t0001g0179 a0010c0017t0003g0009 a0011c0080t0001g0105 a0013c0023t0001g0175 a0014c0024t0004g0209 a0014c0024t0004g0210 a0025c0030t0005g0342 a0028c0034t0018g0101 a0030c0033t0003g0044 a0041c0092t0005g0085 a0050c0059t0003g0013 a0064c0054t0001g0167	35	95	0.3684	16	c.201 others(35): Show c.2010+5760_2010+5775dupTTATTTATTTATTTAT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20704075	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01361.hp1 HG02135.hp2 others(8): Show HG00438.hp1 HG01361.hp1 HG02135.hp2 HG02738.hp2 HG04184.hp1 NA18955.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18998.hp2 NA19000.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0009 a0011 a0022	a0001c0001 a0002c0003 a0003c0010 others(5): Show a0001c0001 a0002c0003 a0003c0010 a0006c0007 a0008c0027 a0009c0018 a0011c0013 a0022c0029	a0001c0001t0002 a0002c0003t0001 a0002c0003t0003 others(6): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0003 a0003c0010t0001 a0006c0007t0001 a0008c0027t0001 a0009c0018t0008 a0011c0013t0002 a0022c0029t0005	a0001c0001t0002g0295 a0002c0003t0001g0347 a0002c0003t0003g0020 others(8): Show a0001c0001t0002g0295 a0002c0003t0001g0347 a0002c0003t0003g0020 a0002c0003t0003g0024 a0003c0010t0001g0163 a0006c0007t0001g0302 a0006c0007t0001g0320 a0008c0027t0001g0162 a0009c0018t0008g0312 a0011c0013t0002g0113 a0022c0029t0005g0214	11	53	0.2075	16	c.233 others(33): Show c.2338-648_2338-633dupTTTTTTTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711778	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp2 HG01978.hp2 others(7): Show HG00099.hp1 HG01257.hp2 HG01978.hp2 HG02683.hp2 HG03486.hp2 HG03831.hp2 NA18940.hp2 NA18948.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0021	a0001c0001 a0001c0077 a0002c0003 others(5): Show a0001c0001 a0001c0077 a0002c0003 a0002c0041 a0004c0008 a0005c0006 a0006c0019 a0021c0039	a0001c0001t0001 a0001c0077t0001 a0002c0003t0003 others(5): Show a0001c0001t0001 a0001c0077t0001 a0002c0003t0003 a0002c0041t0001 a0004c0008t0001 a0005c0006t0001 a0006c0019t0001 a0021c0039t0001	a0001c0001t0001g0275 a0001c0077t0001g0212 a0002c0003t0003g0038 others(7): Show a0001c0001t0001g0275 a0001c0077t0001g0212 a0002c0003t0003g0038 a0002c0003t0003g0040 a0002c0041t0001g0122 a0004c0008t0001g0227 a0005c0006t0001g0068 a0005c0006t0001g0258 a0006c0019t0001g0301 a0021c0039t0001g0349	10	293	0.0341	16	c.242 others(35): Show c.2421+7025_2421+7040dupCTTTCTTTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711786	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	223	0.0045	16	c.242 others(35): Show c.2421+6982_2421+6983insCTCTCTCTCTCTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711789	T T	TCTTCTCT others(9): Show TCTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0150 a0003c0002t0001g0150	1	358	0.0028	16	c.242 others(35): Show c.2421+6982_2421+6983insCTTCTCTCTCTCTCTC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27			chr7	TogoVar
ABCB7_chrX_75046048_75161283	75094019	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0011 a0002c0002t0003g0011	1	88	0.0114	16	c.453 others(33): Show c.453+4907_453+4922dupATATATATATATATAT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75094050	A A	ATATATAT others(9): Show ATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0218 a0001c0003t0016g0218	1	219	0.0046	16	c.453 others(33): Show c.453+4891_453+4892insGATAGATATATATATA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(9): Show GTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18977.hp1 HG03516.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0202 a0001c0001t0005g0121 a0001c0001t0001g0202 a0001c0001t0005g0121	2	23	0.0870	16	c.334 others(33): Show c.334-4987_334-4986insAAAAAAAACAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01981.hp2 HG01256.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0138 a0001c0001t0002g0089 a0001c0001t0001g0138 a0001c0001t0002g0089	2	23	0.0870	16	c.334 others(33): Show c.334-5002_334-4987dupAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75122861	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG02080.hp2 others(14): Show HG00609.hp1 HG01261.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp2 HG02735.hp1 HG04184.hp1 HG04228.hp1 NA18960.hp1 NA18962.hp1 NA18989.hp1 NA19012.hp1 NA19066.hp1 NA19082.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0122 others(14): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0005g0145 a0001c0001t0010g0147 a0001c0001t0010g0196 a0001c0001t0010g0227 a0001c0001t0014g0038 a0001c0001t0017g0178	17	26	0.6538	16	c.169 others(33): Show c.169-8046_169-8031dupACACACACACACACAC	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75156926	C C	CACACACA others(9): Show CACACACACACACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0225 a0001c0003t0011g0225	1	220	0.0045	16	c.-65 others(25): Show c.-655_-654insCTGTGTGTGTGTGTGT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding		644		chrX	TogoVar
ABCB8_chr7_151023450_151052782	151030510	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0111 a0001c0002t0003g0111	1	258	0.0039	16	c.95+ others(31): Show c.95+1915_95+1916insTAAATAAATAAATAAA	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC11_chr16_48160773_48252539	48243993	G G	GAATAAAT others(9): Show GAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01175.hp2 others(10): Show HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp2 HG01891.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 NA19240.hp2 NA20752.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0018	a0003c0006 a0004c0017 a0004c0027 others(3): Show a0003c0006 a0004c0017 a0004c0027 a0006c0011 a0006c0012 a0018c0025	a0003c0006t0004 a0004c0017t0001 a0004c0027t0001 others(3): Show a0003c0006t0004 a0004c0017t0001 a0004c0027t0001 a0006c0011t0002 a0006c0012t0007 a0018c0025t0001	a0003c0006t0004g0026 a0003c0006t0004g0027 a0003c0006t0004g0028 others(9): Show a0003c0006t0004g0026 a0003c0006t0004g0027 a0003c0006t0004g0028 a0004c0017t0001g0029 a0004c0017t0001g0031 a0004c0027t0001g0034 a0006c0011t0002g0005 a0006c0011t0002g0124 a0006c0012t0007g0020 a0006c0012t0007g0021 a0006c0012t0007g0022 a0018c0025t0001g0030	13	134	0.0970	16	c.-19 others(33): Show c.-19+3305_-19+3320dupTATTTATTTATTTATT	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	1/29			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTATAT others(9): Show GTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	103	0.0097	16	c.-50 others(27): Show c.-5035_-5034insTGTATATATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(15): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp2 HG02145.hp2 HG02148.hp1 HG02451.hp2 HG02809.hp2 HG02965.hp1 HG03130.hp2 HG03492.hp2 NA18906.hp2 NA18964.hp1 NA18983.hp2 NA19002.hp2 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0028 a0002c0010 a0002c0011 a0004c0025 a0004c0031 a0006c0018	a0001c0001t0003 a0001c0001t0008 a0001c0001t0020 others(13): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0004t0002 a0001c0007t0005 a0001c0009t0003 a0001c0009t0008 a0001c0028t0002 a0002c0010t0002 a0002c0011t0003 a0004c0025t0006 a0004c0031t0009 a0006c0018t0003	a0001c0001t0003g0030 a0001c0001t0003g0070 a0001c0001t0008g0002 others(15): Show a0001c0001t0003g0030 a0001c0001t0003g0070 a0001c0001t0008g0002 a0001c0001t0020g0102 a0001c0002t0001g0133 a0001c0002t0002g0112 a0001c0002t0006g0108 a0001c0004t0002g0060 a0001c0007t0005g0113 a0001c0009t0003g0063 a0001c0009t0008g0089 a0001c0028t0002g0066 a0002c0010t0002g0076 a0002c0011t0003g0126 a0002c0011t0003g0130 a0004c0025t0006g0001 a0004c0031t0009g0111 a0006c0018t0003g0123	18	120	0.1500	16	c.-50 others(27): Show c.-5035_-5034insTGTGTATATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA19009.hp1 HG02129.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0002 a0001c0002t0003 a0001c0006t0002	a0001c0002t0003g0059 a0001c0006t0002g0073 a0001c0002t0003g0059 a0001c0006t0002g0073	2	104	0.0192	16	c.-50 others(27): Show c.-5035_-5034insTGTGTGTATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG03017.hp1 others(1): Show HG01884.hp2 HG02257.hp2 HG03017.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0017 a0001c0002t0001 a0001c0007t0005 a0001c0001t0017 a0001c0002t0001 a0001c0007t0005	a0001c0001t0017g0021 a0001c0002t0001g0028 a0001c0002t0001g0082 others(1): Show a0001c0001t0017g0021 a0001c0002t0001g0028 a0001c0002t0001g0082 a0001c0007t0005g0027	4	106	0.0377	16	c.-50 others(27): Show c.-5035_-5034insTGTGTGTGTATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar

Search by Variant

Search

Search Results