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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17B_chr9_71860152_71916193 | 71874177 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0049 others(19): Show |
25 | 151 | 0.1656 | 1 | c.467 others(8): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71875230 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(160): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(131): Show |
163 | 180 | 0.9056 | 1 | c.-3- others(7): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71878136 | T | TA | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0093 others(3): Show |
6 | 184 | 0.0326 | 1 | c.-3- others(8): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71883036 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(133): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show |
136 | 184 | 0.7391 | 1 | c.-3- others(8): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71885460 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(124): Show |
156 | 177 | 0.8814 | 1 | c.-3- others(9): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71889319 | G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show |
171 | 184 | 0.9293 | 1 | c.-3- others(9): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71892785 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(136): Show |
168 | 184 | 0.9130 | 1 | c.-3- others(9): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71893406 | A | AG | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(2): Show |
5 | 184 | 0.0272 | 1 | c.-4+ others(9): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71898469 | T | TA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01167.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0071 others(6): Show |
9 | 177 | 0.0508 | 1 | c.-4+ others(9): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71899859 | G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(146): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(118): Show |
149 | 181 | 0.8232 | 1 | c.-4+ others(9): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71900652 | C | CA | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0128 a0001c0001t0002g0023 others(2): Show |
5 | 19 | 0.2632 | 1 | c.-4+ others(8): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71906819 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(138): Show |
170 | 176 | 0.9659 | 1 | c.-4+ others(8): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71906822 | A | AC | intron_variant | MODIFIER | HG02723.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | 184 | 0.0109 | 1 | c.-4+ others(16): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71908392 | C | CA | intron_variant | MODIFIER | HG01358.hp2 HG01934.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0138 others(4): Show |
7 | 180 | 0.0389 | 1 | c.-4+ others(8): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71915183 | A | AT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01928.hp2 HG01934.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0070 others(3): Show |
7 | 144 | 0.0486 | 1 | c.-45 others(6): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 3991 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71915185 | T | TA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(101): Show |
126 | 183 | 0.6885 | 1 | c.-45 others(12): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 3993 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80693580 | T | TA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG02109.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0190 a0001c0001t0001g0228 a0001c0001t0001g0305 others(3): Show |
6 | 323 | 0.0186 | 1 | c.-18 others(12): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1729 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80693581 | T | TA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01070.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0118 a0001c0001t0001g0178 a0001c0001t0001g0184 others(14): Show |
17 | 190 | 0.0895 | 1 | c.-18 others(12): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1728 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80697626 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0072 a0001c0001t0002g0074 others(48): Show |
53 | 355 | 0.1493 | 1 | c.590 others(9): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80698061 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(58): Show |
67 | 104 | 0.6442 | 1 | c.590 others(9): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80701678 | C | CA | intron_variant | MODIFIER | HG02486.hp2 HG02738.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0178 others(4): Show |
7 | 306 | 0.0229 | 1 | c.590 others(9): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80704564 | C | CA | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0002g0001 others(8): Show |
14 | 358 | 0.0391 | 1 | c.590 others(9): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80707562 | G | GC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0074 a0001c0001t0002g0076 others(52): Show |
58 | 358 | 0.1620 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80709488 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0184 others(57): Show |
63 | 356 | 0.1770 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80711547 | C | CA | intron_variant | MODIFIER | HG01109.hp1 HG02080.hp2 NA18953.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0165 a0001c0001t0001g0182 a0001c0001t0001g0190 others(2): Show |
5 | 358 | 0.0140 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713085 | C | CA | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show |
5 | 354 | 0.0141 | 1 | c.590 others(20): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | C | CT | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG00735.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0114 a0001c0001t0001g0115 others(29): Show |
32 | 75 | 0.4267 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80716382 | C | CA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00733.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0033 a0001c0001t0003g0320 a0001c0001t0003g0324 others(23): Show |
29 | 358 | 0.0810 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80717397 | A | AT | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01167.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0167 a0001c0001t0001g0191 a0001c0001t0001g0210 others(10): Show |
16 | 352 | 0.0455 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80718249 | A | AT | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp2 HG01099.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(29): Show |
35 | 301 | 0.1163 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80721213 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(218): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(203): Show |
221 | 307 | 0.7199 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80722321 | C | CT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(67): Show |
78 | 333 | 0.2342 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80722547 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00733.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0033 a0001c0001t0003g0320 a0001c0001t0003g0324 others(22): Show |
28 | 355 | 0.0789 | 1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80724568 | G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(322): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(304): Show |
325 | 358 | 0.9078 | 1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80726501 | G | GT | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG01243.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0163 others(19): Show |
23 | 91 | 0.2527 | 1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80726598 | G | GC | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(151): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(142): Show |
154 | 356 | 0.4326 | 1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80741500 | G | GT | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG01891.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 others(6): Show |
9 | 358 | 0.0251 | 1 | c.591 others(9): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80745391 | A | AT | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | 308 | 0.0260 | 1 | c.591 others(9): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80751205 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 others(76): Show |
81 | 246 | 0.3293 | 1 | c.770 others(18): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80758850 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(315): Show |
336 | 357 | 0.9412 | 1 | c.*44 others(12): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 3230 | chr15 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127961820 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0002g0129 a0001c0001t0002g0194 a0001c0001t0002g0195 others(128): Show |
131 | 320 | 0.4094 | 1 | c.-38 others(12): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3585 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127965607 | G | GT | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(3): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(8): Show |
11 | 342 | 0.0322 | 1 | c.-18 others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0003g0026 others(40): Show |
43 | 92 | 0.4674 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966884 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00673.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0204 a0001c0001t0002g0228 a0001c0001t0002g0229 others(31): Show |
34 | 340 | 0.1000 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966900 | A | AC | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG01981.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014a0002c0002t0021others(1): Show | a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0289 others(4): Show |
7 | 284 | 0.0246 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127967708 | G | GA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(46): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 others(46): Show |
49 | 341 | 0.1437 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127969749 | A | AT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(60): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0003a0002c0002t0001a0002c0002t0014others(16): Show | a0001c0001t0003g0101 a0002c0002t0001g0270 a0002c0002t0001g0272 others(60): Show |
63 | 342 | 0.1842 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127970589 | C | CA | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG04184.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0230 a0001c0001t0004g0161 a0001c0001t0005g0018 others(9): Show |
12 | 331 | 0.0363 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127971075 | C | CA | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02027.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0003g0065 others(8): Show |
11 | 277 | 0.0397 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127971254 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp1 HG01884.hp1 others(31): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0230 others(31): Show |
34 | 284 | 0.1197 | 1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |