view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0183 | 1 | 38 | 0.0263 | 24 | c.816 others(39): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 38 | 0.0263 | 24 | c.816 others(39): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCF2_chr7_151206484_151232205 | 151206719 | A | AAGATAGA others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0021others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(35): Show |
62 | 141 | 0.4397 | 24 | c.*73 others(35): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 4764 | chr7 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115232 | G | GTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02738.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0107 a0001c0001t0001g0118 others(1): Show |
4 | 216 | 0.0185 | 24 | c.842 others(39): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0147 |
3 | 170 | 0.0176 | 24 | c.842 others(39): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88147016 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0080 others(18): Show |
22 | 151 | 0.1457 | 24 | c.-19 others(41): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43884376 | A | AAAATAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 HG02698.hp1 HG04115.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0069a0002c0003t0004a0002c0003t0013others(3): Show | a0001c0001t0069g0129 a0002c0003t0004g0248 a0002c0003t0013g0253 others(3): Show |
6 | 77 | 0.0779 | 24 | c.*64 others(35): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1389 | chr2 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0157 | 1 | 117 | 0.0085 | 24 | c.-11 others(35): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA18983.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0322 a0001c0001t0001g0323 |
3 | 119 | 0.0252 | 24 | c.-11 others(35): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 NA18980.hp1 NA19091.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0002 | a0002c0002t0002g0106 a0002c0002t0002g0327 a0002c0004t0002g0354 |
3 | 119 | 0.0252 | 24 | c.-11 others(35): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0313 | 1 | 117 | 0.0085 | 24 | c.-11 others(35): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0036 | 1 | 7 | 0.1429 | 24 | c.486 others(39): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 others(4): Show |
7 | 99 | 0.0707 | 24 | c.422 others(39): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01993.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0144 a0001c0002t0002g0147 |
2 | 94 | 0.0213 | 24 | c.422 others(39): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01261.hp1 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0157 others(7): Show |
10 | 37 | 0.2703 | 24 | c.590 others(41): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705362 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01069.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0320 a0001c0001t0003g0326 a0001c0001t0003g0327 others(5): Show |
8 | 346 | 0.0231 | 24 | c.590 others(41): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 197 | 0.0051 | 24 | c.194 others(43): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 96 | 0.0104 | 24 | c.509 others(41): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03139.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0154 a0001c0001t0001g0178 others(2): Show |
5 | 88 | 0.0568 | 24 | c.837 others(41): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01168.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0030 others(27): Show |
30 | 148 | 0.2027 | 24 | c.463 others(41): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26864247 | A | AAGTAGCT others(17): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0357 | 1 | 356 | 0.0028 | 24 | c.-33 others(35): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3290 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203392275 | T | TCACCACC others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 40 | 0.0250 | 24 | c.578 others(41): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203434040 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0131 | 1 | 271 | 0.0037 | 24 | c.*66 others(35): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1872 | chr2 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02004.hp2 HG02735.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0010a0004c0007 | a0001c0001t0005a0002c0010t0002a0004c0007t0001 | a0001c0001t0005g0078 a0001c0001t0005g0096 a0002c0010t0002g0165 others(1): Show |
4 | 51 | 0.0784 | 24 | c.461 others(41): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894965 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0021 | 1 | 216 | 0.0046 | 24 | c.461 others(41): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100940829 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02027.hp1 HG02132.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0015a0002c0002t0027a0002c0008t0004others(3): Show | a0001c0001t0015g0234 a0002c0002t0027g0055 a0002c0008t0004g0207 others(3): Show |
6 | 9 | 0.6667 | 24 | c.80- others(41): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18948.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0094a0001c0001t0127a0001c0001t0149 | a0001c0001t0094g0242 a0001c0001t0127g0229 a0001c0001t0149g0032 |
3 | 10 | 0.3000 | 24 | c.982 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02083.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0085a0001c0002t0110a0001c0003t0014others(2): Show | a0001c0002t0085g0161 a0001c0002t0110g0157 a0001c0003t0014g0044 others(2): Show |
5 | 12 | 0.4167 | 24 | c.982 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0128 | 1 | 8 | 0.1250 | 24 | c.982 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0234 | 1 | 8 | 0.1250 | 24 | c.982 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0245 | 1 | 8 | 0.1250 | 24 | c.982 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114558902 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0187 | 1 | 122 | 0.0082 | 24 | c.674 others(43): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 4/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114583468 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0206 | 1 | 133 | 0.0075 | 24 | c.380 others(41): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114593028 | C | CTAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(135): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(108): Show | a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0244 others(135): Show |
138 | 254 | 0.5433 | 24 | c.379 others(41): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7969730 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00621.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0147 a0001c0001t0001g0191 others(9): Show |
12 | 18 | 0.6667 | 24 | c.182 others(43): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7973075 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03139.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0056 a0001c0001t0002g0141 a0001c0001t0010g0005 others(1): Show |
4 | 120 | 0.0333 | 24 | c.182 others(43): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7977790 | C | CAATAAAT others(17): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02165.hp2 HG02257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0002g0011 others(10): Show |
13 | 121 | 0.1074 | 24 | c.182 others(43): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8091692 | T | TATATAAT others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0007a0001c0003t0009others(1): Show | a0001c0001t0002g0108 a0001c0003t0007g0040 a0001c0003t0009g0211 others(2): Show |
5 | 254 | 0.0197 | 24 | c.339 others(41): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8139254 | A | AGGGGAGG others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0003 | 1 | 305 | 0.0033 | 24 | c.10+ others(41): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 999358 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0162 | 1 | 173 | 0.0058 | 24 | c.*67 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4160 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 999358 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0235 | 1 | 173 | 0.0058 | 24 | c.*67 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4160 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 999358 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0047 | a0001c0006t0047g0228 | 1 | 173 | 0.0058 | 24 | c.*67 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4160 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1054495 | A | AGGGGACG others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0199 | 1 | 334 | 0.0030 | 24 | c.156 others(43): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1112621 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0064 others(71): Show |
74 | 252 | 0.2937 | 24 | c.247 others(43): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173108 | A | AACACATC others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0106 | 1 | 326 | 0.0031 | 24 | c.61+ others(39): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34214139 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03209.hp1 HG03225.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0009a0002c0002a0003c0003others(1): Show | a0001c0009t0005a0002c0002t0002a0003c0003t0010others(1): Show | a0001c0009t0005g0072 a0002c0002t0002g0227 a0003c0003t0010g0165 others(1): Show |
4 | 27 | 0.1481 | 24 | c.884 others(41): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107469866 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 142 | 0.0070 | 24 | c.113 others(45): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107508438 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 NA20905.hp1 |
a0001a0016 | a0001c0001a0016c0028 | a0001c0001t0001a0016c0028t0004 | a0001c0001t0001g0034 a0016c0028t0004g0059 |
2 | 43 | 0.0465 | 24 | c.113 others(45): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107648380 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0173 | 1 | 43 | 0.0233 | 24 | c.292 others(41): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49801785 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 47 | 0.0213 | 24 | c.183 others(39): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar |