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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12_chr20_25295214_25395835 | 25348446 | TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(119): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0239 others(116): Show |
122 | 166 | 0.7349 | -2 | c.192 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCA | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0011a0001c0004t0004others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0047 others(23): Show |
26 | 56 | 0.4643 | -2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25353260 | TTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(80): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(79): Show |
83 | 314 | 0.2643 | -2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25361381 | TAA | T | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0009g0287 others(3): Show |
6 | 314 | 0.0191 | -2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25369927 | TAA | T | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0079 a0001c0001t0001g0113 a0001c0001t0004g0229 others(12): Show |
15 | 43 | 0.3488 | -2 | c.191 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25378697 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(98): Show |
102 | 250 | 0.4080 | -2 | c.191 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25385331 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01255.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0042 others(36): Show |
41 | 76 | 0.5395 | -2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25386161 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(135): Show |
141 | 314 | 0.4490 | -2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25389295 | CTA | C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0301 a0001c0001t0008g0302 a0001c0001t0008g0303 others(2): Show |
5 | 314 | 0.0159 | -2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25392344 | TAA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(87): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(87): Show |
90 | 115 | 0.7826 | -2 | c.-16 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1510 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25392645 | CAA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(69): Show |
72 | 252 | 0.2857 | -2 | c.-19 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1811 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25394513 | TGA | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01934.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0129 |
3 | 314 | 0.0096 | -2 | c.-38 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3679 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215130 | TCA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00738.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0087 others(2): Show |
32 | 387 | 0.0827 | -2 | c.-35 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 3261 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215448 | CAA | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01081.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0022 others(15): Show |
49 | 387 | 0.1266 | -2 | c.-32 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2943 | chr13 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAA | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00673.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(3): Show |
23 | 70 | 0.3286 | -2 | c.*87 others(11): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31682781 | CAA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01943.hp2 HG01952.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0023 others(15): Show |
30 | 190 | 0.1579 | -2 | c.*44 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4173 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31684428 | CTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0015 others(31): Show |
76 | 324 | 0.2346 | -2 | c.*27 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2526 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(36): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0004 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0034 others(8): Show |
39 | 80 | 0.4875 | -2 | c.430 others(17): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31701372 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(189): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0055 a0001c0001t0002g0003 others(84): Show |
192 | 416 | 0.4615 | -2 | c.190 others(15): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31704725 | GTT | G | upstream_gene_variant | MODIFIER | HG02071.hp2 HG02486.hp2 HG02647.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0147 a0001c0001t0002g0030 others(6): Show |
25 | 213 | 0.1174 | -2 | c.-14 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1402 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31706264 | CTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(31): Show |
68 | 243 | 0.2798 | -2 | c.-29 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2941 | chr6 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874738 | CAG | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0018 others(5): Show |
20 | 414 | 0.0483 | -2 | c.*24 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2071 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
34 | 93 | 0.3656 | -2 | c.*24 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886376 | CCT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(272): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(47): Show |
275 | 413 | 0.6659 | -2 | c.-12 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 881 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71886421 | CAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0136 others(2): Show |
5 | 40 | 0.1250 | -2 | c.-3- others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71896681 | AAC | A | intron_variant | MODIFIER | HG01081.hp1 HG02630.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 |
3 | 21 | 0.1429 | -2 | c.-4+ others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71912062 | GCA | G | upstream_gene_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 | -2 | c.-14 others(13): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 870 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80698061 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(179): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(171): Show |
182 | 219 | 0.8311 | -2 | c.590 others(19): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80700936 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0185 others(43): Show |
46 | 358 | 0.1285 | -2 | c.590 others(19): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0169 a0001c0001t0001g0173 others(48): Show |
53 | 96 | 0.5521 | -2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | CCA | C | intron_variant | MODIFIER | HG00438.hp1 HG02683.hp2 HG02922.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0133 a0001c0001t0001g0248 a0001c0001t0001g0283 others(11): Show |
15 | 99 | 0.1515 | -2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713939 | CAT | C | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0002g0001 others(6): Show |
11 | 358 | 0.0307 | -2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723132 | GTA | G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 others(60): Show |
69 | 356 | 0.1938 | -2 | c.591 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80726501 | GTT | G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00735.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(51): Show |
62 | 130 | 0.4769 | -2 | c.591 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80731658 | CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0178 others(75): Show |
86 | 354 | 0.2429 | -2 | c.591 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01168.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0129 a0001c0001t0004g0131 a0001c0001t0004g0132 others(7): Show |
10 | 59 | 0.1695 | -2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127967772 | CAT | C | intron_variant | MODIFIER | HG01496.hp2 HG02572.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0063a0001c0001t0064 | a0001c0001t0061g0267 a0001c0001t0063g0266 a0001c0001t0064g0268 |
3 | 342 | 0.0088 | -2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127971075 | CAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(60): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(15): Show | a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0277 others(60): Show |
63 | 329 | 0.1915 | -2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127971482 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(101): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 others(101): Show |
104 | 188 | 0.5532 | -2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127972520 | CTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(56): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(19): Show | a0001c0001t0002g0258 a0001c0001t0004g0175 a0001c0001t0004g0193 others(56): Show |
59 | 166 | 0.3554 | -2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127974188 | GTT | G | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(6): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(12): Show |
15 | 241 | 0.0622 | -2 | c.-18 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127978158 | CAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0059a0003c0003t0060 | a0003c0003t0034g0134 a0003c0003t0034g0136 a0003c0003t0059g0135 others(1): Show |
4 | 342 | 0.0117 | -2 | c.-17 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127985378 | CAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(6): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(12): Show |
15 | 342 | 0.0439 | -2 | c.177 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128001839 | TTG | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(76): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(24): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(76): Show |
79 | 342 | 0.2310 | -2 | c.279 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128013977 | CTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01358.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014a0002c0002t0056 | a0002c0002t0001g0289 a0002c0002t0001g0295 a0002c0002t0001g0297 others(3): Show |
6 | 247 | 0.0243 | -2 | c.470 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128023403 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(83): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0003g0043 a0001c0001t0003g0064 a0001c0001t0003g0065 others(83): Show |
86 | 149 | 0.5772 | -2 | c.801 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128039144 | CAT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(33): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0007a0001c0001t0010a0001c0001t0019others(10): Show | a0001c0001t0007g0130 a0001c0001t0007g0137 a0001c0001t0007g0142 others(33): Show |
36 | 75 | 0.4800 | -2 | c.*33 others(13): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3371 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27125900 | CAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01496.hp2 HG02280.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0043 others(8): Show |
16 | 30 | 0.5333 | -2 | c.114 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27126945 | CAA | C | intron_variant | MODIFIER | HG00738.hp1 HG02622.hp1 HG02897.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0002c0002t0001a0005c0010t0001 | a0001c0001t0001g0074 a0002c0002t0001g0012 a0002c0002t0001g0039 others(4): Show |
10 | 48 | 0.2083 | -2 | c.115 others(19): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89084209 | TAA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01884.hp1 HG02055.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0023 others(20): Show |
23 | 63 | 0.3651 | -2 | c.-44 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4246 | chr15 | TogoVar |