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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12B_chr14_50867053_50909970 | 50870981 | AAG | A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG03209.hp1 NA19030.hp1 others(1): Show |
a0001a0004a0009 | a0001c0001a0001c0005a0004c0009others(1): Show | a0001c0001t0001a0001c0005t0004a0004c0009t0015others(1): Show | a0001c0001t0001g0296a0001c0005t0004g0126a0004c0009t0015g0177others(1): Show | 4 | 376 | 0.0106 | -2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1071 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870997 | GAA | G | upstream_gene_variant | MODIFIER | HG03209.hp1 HG03516.hp1 NA20129.hp1 |
a0002a0004 | a0002c0002a0002c0004a0004c0009 | a0002c0002t0005a0002c0004t0006a0004c0009t0015 | a0002c0002t0005g0179a0002c0004t0006g0169a0004c0009t0015g0177 | 3 | 376 | 0.0080 | -2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1055 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50880243 | GTC | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(29): Show |
a0001a0002a0010 | a0001c0006a0001c0011a0002c0004others(1): Show | a0001c0006t0001a0001c0006t0013a0001c0011t0004others(4): Show | a0001c0006t0001g0059a0001c0006t0001g0092a0001c0006t0001g0241others(27): Show | 32 | 376 | 0.0851 | -2 | c.336 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50882373 | CTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01884.hp1 HG02622.hp2 others(7): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0008c0015others(1): Show | a0002c0002t0005a0003c0003t0001a0008c0015t0001others(1): Show | a0002c0002t0005g0022a0002c0002t0005g0153a0002c0002t0005g0170others(7): Show | 10 | 376 | 0.0266 | -2 | c.486 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50884035 | ATC | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0006a0001c0011a0002c0004others(2): Show | a0001c0006t0001a0001c0006t0013a0001c0011t0004others(5): Show | a0001c0006t0001g0059a0001c0006t0001g0092a0001c0006t0001g0129others(32): Show | 37 | 376 | 0.0984 | -2 | c.487 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50897071 | GTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0034others(197): Show | 213 | 376 | 0.5665 | -2 | c.781 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50904989 | GTT | G | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp1 others(14): Show |
a0002a0009 | a0002c0002a0002c0004a0009c0017 | a0002c0002t0005a0002c0002t0006a0002c0002t0011others(4): Show | a0002c0002t0005g0022a0002c0002t0005g0024a0002c0002t0005g0153others(14): Show | 17 | 376 | 0.0452 | -2 | c.*62 others(11): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 20 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50908020 | CAA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01517.hp2 others(19): Show |
a0001a0004a0008 | a0001c0001a0004c0007a0004c0009others(1): Show | a0001c0001t0001a0004c0007t0001a0004c0007t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0095a0001c0001t0001g0323others(16): Show | 22 | 376 | 0.0585 | -2 | c.*36 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25300523 | CCT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0175a0001c0002t0003g0176a0001c0002t0003g0177others(27): Show | 30 | 316 | 0.0949 | -2 | c.*32 others(11): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 13/13 | 320 | chr20 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25303264 | CCT | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0250a0001c0003t0006g0251a0001c0003t0006g0268others(5): Show | 8 | 316 | 0.0253 | -2 | c.102 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25318305 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294others(142): Show | 145 | 316 | 0.4589 | -2 | c.543 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25318663 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0002 | a0001c0002t0002g0141a0001c0002t0002g0151a0001c0002t0002g0166others(4): Show | 7 | 316 | 0.0222 | -2 | c.542 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322362 | GAT | G | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0036a0001c0001t0001g0103a0001c0001t0001g0130others(6): Show | 10 | 316 | 0.0317 | -2 | c.422 others(17): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | ATT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0019others(64): Show | 67 | 316 | 0.2120 | -2 | c.422 others(17): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25325203 | CAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01123.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0002t0003others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0098others(8): Show | 11 | 316 | 0.0348 | -2 | c.317 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25342103 | CAA | C | intron_variant | MODIFIER | HG01975.hp2 HG02258.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(2): Show | a0001c0001t0001g0053a0001c0001t0008g0003a0001c0002t0002g0151others(3): Show | 6 | 316 | 0.0190 | -2 | c.192 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
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 | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267others(119): Show | 122 | 316 | 0.3861 | -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 | a0001c0001t0001a0001c0001t0012a0001c0004t0004others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0042others(23): Show | 26 | 316 | 0.0823 | -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 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(80): Show | 83 | 316 | 0.2627 | -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 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0010g0290others(3): Show | 6 | 316 | 0.0190 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0004g0266others(12): Show | 15 | 316 | 0.0475 | -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 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(99): Show | 102 | 316 | 0.3228 | -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 | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0041others(38): Show | 41 | 316 | 0.1298 | -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 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(138): Show | 141 | 316 | 0.4462 | -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 | a0001c0001t0009 | a0001c0001t0009g0304a0001c0001t0009g0305a0001c0001t0009g0306others(2): Show | 5 | 316 | 0.0158 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(87): Show | 90 | 316 | 0.2848 | -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 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0011others(69): Show | 72 | 316 | 0.2279 | -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 | a0001c0001t0001g0042a0001c0001t0001g0049a0001c0001t0001g0119 | 3 | 316 | 0.0095 | -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 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0089others(2): Show | 32 | 390 | 0.0821 | -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 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0023others(15): Show | 49 | 390 | 0.1256 | -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 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0015others(3): Show | 23 | 344 | 0.0669 | -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 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0024others(15): Show | 30 | 417 | 0.0719 | -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 | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0015others(31): Show | 76 | 417 | 0.1823 | -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 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0034others(8): Show | 39 | 417 | 0.0935 | -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 | a0001c0001t0001g0014a0001c0001t0001g0056a0001c0001t0002g0003others(84): Show | 192 | 417 | 0.4604 | -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 | a0001c0001t0001g0035a0001c0001t0001g0149a0001c0001t0002g0031others(6): Show | 25 | 417 | 0.0600 | -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 | a0001c0001t0001g0002a0001c0001t0002g0003a0001c0001t0002g0006others(31): Show | 68 | 417 | 0.1631 | -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 | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0019others(5): Show | 20 | 416 | 0.0481 | -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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(8): Show | 34 | 416 | 0.0817 | -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 |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(48): Show | 275 | 416 | 0.6611 | -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 | a0001c0001t0002g0023a0001c0001t0002g0024a0001c0001t0002g0136others(2): Show | 5 | 186 | 0.0269 | -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 | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022 | 3 | 186 | 0.0161 | -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(166): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 169 | 186 | 0.9086 | -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(180): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(173): Show | 183 | 360 | 0.5083 | -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 | a0001c0001t0001g0174a0001c0001t0001g0185a0001c0001t0001g0186others(43): Show | 46 | 360 | 0.1278 | -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 | a0001c0001t0001g0065a0001c0001t0001g0170a0001c0001t0001g0174others(49): Show | 53 | 360 | 0.1472 | -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 | a0001c0001t0001g0134a0001c0001t0001g0249a0001c0001t0001g0284others(11): Show | 15 | 360 | 0.0417 | -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 | a0001c0001t0001g0168a0001c0001t0001g0170a0001c0001t0002g0003others(6): Show | 11 | 360 | 0.0306 | -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 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0013others(60): Show | 69 | 360 | 0.1917 | -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 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(51): Show | 62 | 360 | 0.1722 | -2 | c.591 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |