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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG5_chr2_43807472_43843839 | 43812896 | TA | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02976.hp2 HG03453.hp1 others(1): Show |
a0002a0006 | a0002c0002a0006c0005 | a0002c0002t0008a0006c0005t0008 | a0002c0002t0008g0144 a0006c0005t0008g0043 a0006c0005t0008g0049 others(1): Show |
4 | 328 | 0.0122 | -1 | c.*21 others(5): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 13/13 | 219 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43813709 | GT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(32): Show |
a0001a0003a0005 | a0001c0001a0001c0013a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0003g0011 others(30): Show |
35 | 197 | 0.1777 | -1 | c.176 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43815790 | TG | T | intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 a0001c0001t0003g0226 |
3 | 328 | 0.0091 | -1 | c.165 others(10): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43819481 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(61): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0135 a0001c0001t0003g0011 others(55): Show |
64 | 327 | 0.1957 | -1 | c.164 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43822476 | AG | A | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG01981.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0118 a0001c0001t0001g0152 others(8): Show |
11 | 315 | 0.0349 | -1 | c.146 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43822478 | GC | G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00738.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0122 others(15): Show |
20 | 44 | 0.4545 | -1 | c.146 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43827325 | CA | C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02145.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001a0005c0006t0006 | a0001c0001t0001g0159 a0005c0006t0001g0160 a0005c0006t0006g0025 others(2): Show |
6 | 268 | 0.0224 | -1 | c.634 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828472 | CA | C | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG02145.hp1 others(11): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0009a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0230 others(10): Show |
14 | 148 | 0.0946 | -1 | c.502 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828910 | AG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(139): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0010a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
142 | 328 | 0.4329 | -1 | c.502 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828972 | AT | A | intron_variant | MODIFIER | HG02083.hp2 HG03225.hp2 NA19000.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0062 a0001c0001t0001g0073 a0005c0006t0001g0160 |
3 | 328 | 0.0091 | -1 | c.502 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43829674 | CA | C | intron_variant | MODIFIER | HG01346.hp2 HG02486.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0152 a0001c0001t0003g0147 a0001c0001t0003g0148 others(3): Show |
6 | 328 | 0.0183 | -1 | c.502 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43835293 | TG | T | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02451.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0152 a0001c0001t0003g0126 a0001c0001t0003g0145 others(14): Show |
17 | 328 | 0.0518 | -1 | c.265 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43835944 | CT | C | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG01516.hp1 others(20): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0134 a0001c0001t0001g0135 others(15): Show |
23 | 328 | 0.0701 | -1 | c.265 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43837120 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(165): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0010a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(120): Show |
168 | 322 | 0.5217 | -1 | c.265 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43841975 | GC | G | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01192.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0130 a0001c0001t0001g0133 |
4 | 328 | 0.0122 | -1 | c.-32 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3137 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43842013 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0008 | a0001c0001a0001c0010a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show |
153 | 328 | 0.4665 | -1 | c.-33 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3175 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43835293 | TG | T | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02451.hp2 others(13): Show |
a0003a0007a0009others(1): Show | a0003c0002a0003c0014a0003c0021others(4): Show | a0003c0002t0095a0003c0002t0104a0003c0014t0043others(8): Show | a0003c0002t0095g0242 a0003c0002t0104g0216 a0003c0014t0043g0217 others(12): Show |
16 | 316 | 0.0506 | -1 | c.-37 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3677 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43835944 | CT | C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02647.hp2 HG02717.hp2 others(9): Show |
a0002a0003a0015 | a0002c0003a0003c0002a0003c0010others(2): Show | a0002c0003t0090a0003c0002t0021a0003c0002t0092others(5): Show | a0002c0003t0090g0035 a0003c0002t0021g0150 a0003c0002t0092g0040 others(8): Show |
12 | 316 | 0.0380 | -1 | c.-31 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3026 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43837120 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(155): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0002c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(58): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(143): Show |
158 | 311 | 0.5080 | -1 | c.-19 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1850 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43841975 | GC | G | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01192.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0007 | a0001c0001t0007a0001c0008t0015a0001c0008t0051others(1): Show | a0001c0001t0007g0142 a0001c0008t0015g0144 a0001c0008t0051g0141 others(1): Show |
4 | 316 | 0.0127 | -1 | c.64- others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43842013 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(141): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0008a0003c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(50): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(131): Show |
144 | 316 | 0.4557 | -1 | c.64- others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43845118 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp1 others(2): Show |
a0001a0005 | a0001c0008a0005c0007 | a0001c0008t0029a0001c0008t0050a0005c0007t0006 | a0001c0008t0029g0152 a0001c0008t0050g0073 a0005c0007t0006g0006 others(1): Show |
5 | 316 | 0.0158 | -1 | c.165 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43848853 | TA | T | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01109.hp2 others(9): Show |
a0002a0003a0014 | a0002c0003a0003c0002a0014c0025 | a0002c0003t0090a0003c0002t0002a0003c0002t0018others(3): Show | a0002c0003t0090g0035 a0003c0002t0002g0209 a0003c0002t0018g0015 others(8): Show |
12 | 313 | 0.0383 | -1 | c.322 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43849021 | TA | T | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp1 HG01515.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0048 a0001c0001t0001g0094 a0001c0001t0003g0059 others(15): Show |
18 | 268 | 0.0672 | -1 | c.323 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43866282 | CG | C | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | -1 | c.965 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43873189 | AT | A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01167.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0003a0001c0001t0011a0002c0003t0097others(6): Show | a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0011g0123 others(13): Show |
17 | 271 | 0.0627 | -1 | c.121 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43874075 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(294): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0008a0002c0003others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(124): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(274): Show |
297 | 316 | 0.9399 | -1 | c.141 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43880172 | TG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00642.hp2 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(5): Show | a0001c0001t0007a0001c0001t0016a0001c0001t0031others(11): Show | a0001c0001t0007g0057 a0001c0001t0007g0095 a0001c0001t0007g0142 others(34): Show |
41 | 316 | 0.1297 | -1 | c.*22 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2260 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43880177 | TG | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(65): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0002c0026others(12): Show | a0001c0001t0003a0001c0001t0048a0001c0001t0055others(29): Show | a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0059 others(60): Show |
68 | 316 | 0.2152 | -1 | c.*22 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2265 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43887143 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00738.hp2 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0004others(10): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0029others(23): Show | a0001c0001t0010g0120 a0001c0001t0011g0012 a0001c0001t0029g0046 others(39): Show |
43 | 160 | 0.2688 | -1 | c.*92 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111977948 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0034 others(11): Show |
77 | 264 | 0.2917 | -1 | c.-11 others(6): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1077 | chr3 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111979791 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0034 others(11): Show |
77 | 422 | 0.1825 | -1 | c.142 others(8): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111981311 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(52): Show |
205 | 417 | 0.4916 | -1 | c.143 others(8): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111991165 | GA | G | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021 | 3 | 422 | 0.0071 | -1 | c.577 others(8): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111991354 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp1 others(100): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(33): Show |
103 | 422 | 0.2441 | -1 | c.577 others(7): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111996821 | CA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(30): Show |
136 | 421 | 0.3230 | -1 | c.*51 others(6): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 3454 | chr3 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73731156 | CT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0002t0002g0002 others(1): Show |
13 | 423 | 0.0307 | -1 | c.*54 others(6): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 4937 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73731884 | GT | G | downstream_gene_variant | MODIFIER | HG01516.hp2 HG01993.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0002t0002g0002 |
8 | 381 | 0.0210 | -1 | c.*46 others(6): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 4209 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73732189 | AG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 4 | 426 | 0.0094 | -1 | c.*43 others(6): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 3904 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73733969 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0003g0003 others(3): Show |
50 | 421 | 0.1188 | -1 | c.*25 others(6): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 2124 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73736865 | AG | A | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01074.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0016 |
39 | 426 | 0.0915 | -1 | c.788 others(7): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73738248 | AC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(245): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(12): Show |
248 | 425 | 0.5835 | -1 | c.261 others(7): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73739744 | AT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01168.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0004 | a0001c0001t0003g0003 a0001c0002t0002g0002 a0001c0002t0004g0007 |
11 | 185 | 0.0595 | -1 | c.-97 others(5): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 943 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73740250 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(242): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show |
245 | 425 | 0.5765 | -1 | c.-14 others(6): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 1449 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73740260 | TA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01175.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0002c0003t0001g0004 |
6 | 424 | 0.0142 | -1 | c.-14 others(6): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 1459 | chr7 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50867628 | AT | A | upstream_gene_variant | MODIFIER | NA18954.hp1 NA18983.hp2 NA18993.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0154 a0001c0001t0001g0340 a0002c0002t0002g0134 |
3 | 374 | 0.0080 | -1 | c.-45 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4424 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50873222 | CT | C | intron_variant | MODIFIER | HG01169.hp1 HG02258.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0013others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0005t0004g0026 others(6): Show |
9 | 334 | 0.0269 | -1 | c.104 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50881563 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0005others(5): Show | a0001c0001t0001g0032 a0001c0006t0001g0295 a0002c0002t0005g0022 others(12): Show |
15 | 27 | 0.5556 | -1 | c.456 others(7): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG01167.hp2 HG01169.hp2 others(12): Show |
a0005a0006 | a0005c0008a0006c0010 | a0005c0008t0002a0006c0010t0001 | a0005c0008t0002g0010 a0005c0008t0002g0149 a0005c0008t0002g0150 others(10): Show |
15 | 21 | 0.7143 | -1 | c.486 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882973 | CA | C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02622.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0001c0001t0003a0002c0002t0005others(1): Show | a0001c0001t0001g0162 a0001c0001t0003g0191 a0001c0001t0003g0192 others(9): Show |
12 | 36 | 0.3333 | -1 | c.486 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |