regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 43828972 | AT | A | intron_variant | MODIFIER | HG02083.hp2 HG03225.hp2 NA19000.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0057a0001c0001t0001g0070a0006c0006t0001g0166 | 3 | 330 | 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 | a0001c0001t0001g0156a0001c0001t0003g0151a0001c0001t0003g0152others(3): Show | 6 | 330 | 0.0182 | -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 | a0001c0001t0001g0156a0001c0001t0003g0129a0001c0001t0003g0149others(14): Show | 17 | 330 | 0.0515 | -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 |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0138a0001c0001t0001g0139others(16): Show | 23 | 330 | 0.0697 | -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 |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(128): Show | 168 | 330 | 0.5091 | -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 | a0001c0001t0001g0021a0001c0001t0001g0133a0001c0001t0001g0137 | 4 | 330 | 0.0121 | -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 |
a0001a0002a0012 | a0001c0001a0001c0010a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(115): Show | 153 | 330 | 0.4636 | -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 | a0003c0002t0104a0003c0002t0114a0003c0014t0047others(8): Show | a0003c0002t0104g0242a0003c0002t0114g0217a0003c0014t0047g0216others(12): Show | 16 | 318 | 0.0503 | -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 |
a0002a0003a0017 | a0002c0003a0003c0002a0003c0010others(2): Show | a0002c0003t0099a0003c0002t0029a0003c0002t0101others(5): Show | a0002c0003t0099g0035a0003c0002t0029g0150a0003c0002t0101g0040others(8): Show | 12 | 318 | 0.0377 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(63): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(143): Show | 158 | 318 | 0.4969 | -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 |
a0001a0004 | a0001c0001a0001c0008a0004c0007 | a0001c0001t0015a0001c0008t0014a0001c0008t0054others(1): Show | a0001c0001t0015g0142a0001c0008t0014g0144a0001c0008t0054g0141others(1): Show | 4 | 318 | 0.0126 | -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 |
a0001a0003a0004others(6): Show | a0001c0001a0001c0008a0003c0002others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(55): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(131): Show | 144 | 318 | 0.4528 | -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 |
a0001a0004 | a0001c0008a0004c0007 | a0001c0008t0031a0001c0008t0058a0004c0007t0007 | a0001c0008t0031g0152a0001c0008t0058g0068a0004c0007t0007g0006others(1): Show | 5 | 318 | 0.0157 | -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 |
a0002a0003a0016 | a0002c0003a0003c0002a0016c0025 | a0002c0003t0099a0003c0002t0002a0003c0002t0021others(3): Show | a0002c0003t0099g0035a0003c0002t0002g0209a0003c0002t0021g0063others(8): Show | 12 | 318 | 0.0377 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0059a0001c0001t0001g0115a0001c0001t0004g0047others(15): Show | 18 | 318 | 0.0566 | -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 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | -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 | a0001c0001t0001a0001c0001t0010a0002c0003t0106others(7): Show | a0001c0001t0001g0108a0001c0001t0001g0129a0001c0001t0010g0116others(13): Show | 17 | 318 | 0.0535 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(138): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(276): Show | 297 | 318 | 0.9340 | -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 | a0001c0001t0015a0001c0001t0018a0001c0001t0037others(12): Show | a0001c0001t0015g0057a0001c0001t0015g0142a0001c0001t0018g0003others(34): Show | 41 | 318 | 0.1289 | -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 | a0001c0001t0001a0001c0001t0052a0001c0001t0059others(30): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(60): Show | 68 | 318 | 0.2138 | -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 | a0001c0001t0009a0001c0001t0010a0001c0001t0031others(24): Show | a0001c0001t0009g0114a0001c0001t0010g0012a0001c0001t0031g0046others(39): Show | 43 | 318 | 0.1352 | -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(75): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002a0001c0001t0002g0024a0001c0001t0002g0035others(11): Show | 78 | 424 | 0.1840 | -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(75): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002a0001c0001t0002g0024a0001c0001t0002g0035others(11): Show | 78 | 424 | 0.1840 | -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 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(54): Show | 205 | 424 | 0.4835 | -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 | a0001c0001t0004g0022 | 3 | 424 | 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 |
a0001a0005 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(33): Show | 103 | 424 | 0.2429 | -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 |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(31): Show | 136 | 424 | 0.3208 | -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 | a0001c0001t0001g0001a0001c0001t0003g0003a0001c0002t0002g0002others(1): Show | 13 | 428 | 0.0304 | -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 | a0001c0001t0001g0001a0001c0001t0003g0003a0001c0002t0002g0002 | 8 | 428 | 0.0187 | -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 | 428 | 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 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0003g0003others(3): Show | 50 | 428 | 0.1168 | -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 | a0001c0001t0003g0003a0001c0001t0003g0016 | 39 | 428 | 0.0911 | -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 |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(12): Show | 248 | 428 | 0.5794 | -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 | a0001c0001t0003g0003a0001c0002t0002g0002a0001c0002t0004g0007 | 11 | 428 | 0.0257 | -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 |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(14): Show | 245 | 428 | 0.5724 | -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 | a0001c0001t0001g0001a0001c0001t0001g0006a0002c0003t0001g0004 | 6 | 428 | 0.0140 | -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 | a0001c0001t0001g0154a0001c0001t0001g0340a0002c0002t0002g0135 | 3 | 376 | 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 | a0001c0001t0001g0025a0001c0001t0001g0038a0001c0005t0004g0026others(6): Show | 9 | 376 | 0.0239 | -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 | a0001c0001t0001g0032a0001c0006t0001g0295a0002c0002t0005g0022others(12): Show | 15 | 376 | 0.0399 | -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 | a0005c0008t0002g0010a0005c0008t0002g0149a0005c0008t0002g0150others(10): Show | 15 | 376 | 0.0399 | -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 | a0001c0001t0001g0162a0001c0001t0003g0191a0001c0001t0003g0192others(9): Show | 12 | 376 | 0.0319 | -1 | c.486 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50886440 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(13): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0008a0006c0010others(1): Show | a0001c0001t0001a0005c0008t0002a0006c0010t0001others(1): Show | a0001c0001t0001g0162a0005c0008t0002g0010a0005c0008t0002g0149others(11): Show | 16 | 376 | 0.0426 | -1 | c.663 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50891250 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(346): Show | 370 | 376 | 0.9840 | -1 | c.780 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50897071 | GT | G | intron_variant | MODIFIER | HG01943.hp1 HG02155.hp2 HG03471.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0134a0001c0001t0001g0260a0001c0001t0001g0309others(4): Show | 7 | 376 | 0.0186 | -1 | c.781 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50901967 | CA | C | intron_variant | MODIFIER | HG02055.hp1 HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0047a0001c0001t0001g0048 | 3 | 376 | 0.0080 | -1 | c.863 others(7): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50902202 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(215): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(202): Show | 218 | 376 | 0.5798 | -1 | c.863 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50905380 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(213): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(200): Show | 216 | 376 | 0.5745 | -1 | c.*10 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 411 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50907759 | CA | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02056.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0004a0001c0005t0004a0001c0005t0008others(4): Show | a0001c0001t0004g0318a0001c0005t0004g0026a0001c0005t0004g0126others(7): Show | 12 | 376 | 0.0319 | -1 | c.*33 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 2790 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50908020 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(143): Show | 153 | 376 | 0.4069 | -1 | c.*36 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50908139 | GT | G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02056.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0004a0001c0005t0004a0001c0005t0008others(4): Show | a0001c0001t0004g0318a0001c0005t0004g0026a0001c0005t0004g0126others(7): Show | 12 | 376 | 0.0319 | -1 | c.*37 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3170 | chr14 | TogoVar |