| geneid | 9625 |
|---|---|
| ensemblid | ENSG00000181409.14 |
| hgncid | 21 |
| symbol | AATK |
| name | apoptosis associated tyrosine kinase |
| refseq_nuc | NM_001080395.3 |
| refseq_prot | NP_001073864.2 |
| ensembl_nuc | ENST00000326724.9 |
| ensembl_prot | ENSP00000324196.4 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 81117295 |
| end | 81166221 |
| strand | - |
| ver | v1.2 |
| region | chr17:81117295-81166221 |
| region5000 | chr17:81112295-81171221 |
| regionname0 | AATK_chr17_81117295_81166221 |
| regionname5000 | AATK_chr17_81112295_81171221 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81120022
|
A | G | 0.3234 | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
a0002a0004a0007others(7): Show | a0002c0002a0002c0032a0002c0057others(19): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(109): Show | 119 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/14 | c.3797T>C | p.Phe1266Ser | 4026/5461 | 3797/4125 | 1266/1374 | ||
|
chr17:81121829
|
C | A | 0.5408 | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(196): Show |
a0002a0003a0006others(20): Show | a0002c0002a0002c0032a0002c0057others(44): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(53): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(185): Show | 199 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2107G>T | p.Gly703Cys | 2336/5461 | 2107/4125 | 703/1374 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81121344
|
G | A | 0.7935 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0011a0001c0040others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(75): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 292 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 11/14 | c.2592C>T | p.Ala864Ala | 2821/5461 | 2592/4125 | 864/1374 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81117303
|
G | T | 0.7935 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(74): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(273): Show | 292 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | c.*1099C>A | 1099 | |||||
|
chr17:81117553
|
T | C | 0.8016 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(77): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(276): Show | 295 | 368 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | c.*849A>G | 849 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81118663
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(117): Show |
a0002a0004a0006others(8): Show | a0002c0002a0002c0032a0002c0057others(20): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0016others(110): Show | 120 | 368 | 0.3261 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4085-221G>A | ||||||
|
chr17:81119140
|
CCAGGTGA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(114): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0002a0002c0032others(20): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(25): Show | a0001c0001t0001g0153a0001c0001t0001g0178a0001c0001t0001g0221others(107): Show | 117 | 368 | 0.3179 | -22 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+218_4084+239delACCCTCACCTGACCCTCACCTG | ||||||
|
chr17:81119229
|
TGGGGCCG others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0032others(24): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(32): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(165): Show | 179 | 368 | 0.4864 | -16 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+135_4084+150delGCTCCTTCCCGGCCCC | ||||||
|
chr17:81119342
|
C | CCGCGTGC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(76): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(274): Show | 293 | 368 | 0.7962 | 16 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | c.4084+37_4084+38insAGAGGTAGGGCACGCG | ||||||
|
chr17:81119627
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(170): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0011others(34): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(45): Show | a0001c0001t0001g0019a0001c0001t0001g0076a0001c0001t0001g0098others(160): Show | 173 | 368 | 0.4701 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | c.3884-47G>A | ||||||
|
chr17:81123504
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(220): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0011others(45): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(57): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(210): Show | 223 | 368 | 0.6060 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.963-161C>A | ||||||
|
chr17:81124376
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(240): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(63): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(225): Show | 243 | 368 | 0.6603 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | c.962+351G>A | ||||||
|
chr17:81125038
|
GGCAGGGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(327): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(85): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(309): Show | 330 | 368 | 0.8967 | -9 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-33_756-25delTCACCCTGC | ||||||
|
chr17:81125126
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(173): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0040others(22): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(161): Show | 176 | 368 | 0.4783 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-112C>T | ||||||
|
chr17:81125614
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(324): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0004a0001c0011others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(84): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(306): Show | 327 | 368 | 0.8886 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.756-600T>G | ||||||
|
chr17:81126207
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(206): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0011others(33): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(192): Show | 209 | 368 | 0.5679 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.755+220T>C | ||||||
|
chr17:81126210
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(205): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0011others(33): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(191): Show | 208 | 368 | 0.5652 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 7/13 | c.755+217A>G | ||||||
|
chr17:81127081
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(336): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(87): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(318): Show | 339 | 368 | 0.9212 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 6/13 | c.621+502T>C | ||||||
|
chr17:81127275
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(163): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0040others(20): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(154): Show | 166 | 368 | 0.4511 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 6/13 | c.621+308G>T | ||||||
|
chr17:81128393
|
TAGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(200): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(37): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(189): Show | 203 | 368 | 0.5516 | -3 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 4/13 | c.414+74_414+76delCCT | ||||||
|
chr17:81130962
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(169): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0040others(21): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(32): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(157): Show | 172 | 368 | 0.4674 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3/13 | c.334+99G>A | ||||||
|
chr17:81132050
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(329): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(87): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(311): Show | 332 | 368 | 0.9022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-845A>G | ||||||
|
chr17:81132205
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(329): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(87): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(311): Show | 332 | 368 | 0.9022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-1000A>G | ||||||
|
chr17:81132351
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(336): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(318): Show | 339 | 368 | 0.9212 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-1146C>A | ||||||
|
chr17:81132480
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(238): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0040others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(225): Show | 241 | 368 | 0.6549 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.190-1275C>T | ||||||
|
chr17:81134341
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(328): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0011others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(310): Show | 331 | 368 | 0.8995 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 2/13 | c.189+27T>C | ||||||
|
chr17:81136109
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(309): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(292): Show | 312 | 368 | 0.8478 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-1608A>G | ||||||
|
chr17:81137595
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0040others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(38): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(201): Show | 215 | 368 | 0.5842 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3094G>T | ||||||
|
chr17:81137728
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(226): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0040others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(46): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(214): Show | 229 | 368 | 0.6223 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3227C>T | ||||||
|
chr17:81137920
|
G | GCACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(78): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(293): Show | 314 | 368 | 0.8533 | 4 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3423_56-3420dupTGTG | ||||||
|
chr17:81137933
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(235): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0040others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(52): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(223): Show | 238 | 368 | 0.6467 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3432G>A | ||||||
|
chr17:81138127
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(296): Show | 317 | 368 | 0.8614 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3626T>C | ||||||
|
chr17:81138274
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0040others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(38): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(204): Show | 218 | 368 | 0.5924 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3773G>A | ||||||
|
chr17:81138455
|
G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0011others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(301): Show | 323 | 368 | 0.8777 | 2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-3956_56-3955dupTG | ||||||
|
chr17:81138544
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(229): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0040others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(47): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(217): Show | 232 | 368 | 0.6304 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4043C>T | ||||||
|
chr17:81138545
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0004a0001c0011others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(75): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(272): Show | 293 | 368 | 0.7962 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4044A>G | ||||||
|
chr17:81138653
|
CCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(229): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0040others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(47): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(217): Show | 232 | 368 | 0.6304 | -2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4154_56-4153delTG | ||||||
|
chr17:81138696
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(295): Show | 316 | 368 | 0.8587 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4195T>G | ||||||
|
chr17:81138748
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(297): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0011others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(70): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(281): Show | 300 | 368 | 0.8152 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4247T>G | ||||||
|
chr17:81138800
|
C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(325): Show | 349 | 368 | 0.9484 | 2 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4301_56-4300dupTG | ||||||
|
chr17:81138966
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(258): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0011others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(58): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(246): Show | 261 | 368 | 0.7092 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4465G>A | ||||||
|
chr17:81139122
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(307): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(78): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(291): Show | 310 | 368 | 0.8424 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4621A>G | ||||||
|
chr17:81139363
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(293): Show | 314 | 368 | 0.8533 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-4862C>A | ||||||
|
chr17:81139507
|
A | ACCACACA others(46): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(51): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(238): Show | 256 | 368 | 0.6957 | 53 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5007_56-5006insCAGCAGAGGGCCGGGCTTGGAAGAGCCTGGGGGACACCGTGCAGCTTGTGTGG | ||||||
|
chr17:81139522
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(296): Show | 317 | 368 | 0.8614 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5021A>G | ||||||
|
chr17:81139641
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(85): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(324): Show | 348 | 368 | 0.9457 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5140A>G | ||||||
|
chr17:81139880
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0011others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(79): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(295): Show | 316 | 368 | 0.8587 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5379G>A | ||||||
|
chr17:81140244
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(330): Show | 355 | 368 | 0.9647 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-5743T>C | ||||||
|
chr17:81141917
|
CTCCTTCC others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(87): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(80): Show | 90 | 368 | 0.2446 | -16 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7432_56-7417delAGGAAGGAAGGAAGGA | ||||||
|
chr17:81142303
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0011others(53): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(67): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(199): Show | 221 | 368 | 0.6005 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-7802A>G | ||||||
|
chr17:81143119
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(213): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0011others(54): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(67): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(195): Show | 216 | 368 | 0.5870 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8618G>A | ||||||
|
chr17:81143195
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(215): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0011others(55): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(69): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(197): Show | 218 | 368 | 0.5924 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-8694T>C | ||||||
|
chr17:81144296
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(223): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0004a0001c0011others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(53): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(209): Show | 226 | 368 | 0.6141 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-9795T>C | ||||||
|
chr17:81144773
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(151): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(137): Show | 154 | 368 | 0.4185 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10272A>G | ||||||
|
chr17:81145245
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(140): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(34): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(40): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(126): Show | 143 | 368 | 0.3886 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10744T>C | ||||||
|
chr17:81145270
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(77): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(276): Show | 300 | 368 | 0.8152 | 1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-10770dupT | ||||||
|
chr17:81145708
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(146): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(132): Show | 149 | 368 | 0.4049 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11207A>G | ||||||
|
chr17:81145733
|
CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(254): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0011others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(57): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(238): Show | 257 | 368 | 0.6984 | -1 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11233delT | ||||||
|
chr17:81145986
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(97): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0011others(21): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(24): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(88): Show | 100 | 368 | 0.2717 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11485C>T | ||||||
|
chr17:81146347
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 148 | 368 | 0.4022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11846T>A | ||||||
|
chr17:81146433
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(130): Show | 147 | 368 | 0.3995 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-11932G>A | ||||||
|
chr17:81146727
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 148 | 368 | 0.4022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12226A>G | ||||||
|
chr17:81146925
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 148 | 368 | 0.4022 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12424A>G | ||||||
|
chr17:81146947
|
T | TAAGAAAA others(320): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(97): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0002c0002others(24): Show | a0001c0001t0001a0001c0004t0002a0002c0002t0001others(27): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(89): Show | 100 | 368 | 0.2717 | 327 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12447_56-12446insTTTTTTTTTCCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGTTATTTTCTT | ||||||
|
chr17:81147101
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(35): Show | a0001c0001t0001a0001c0001t0016a0001c0004t0002others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(130): Show | 147 | 368 | 0.3995 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-12600C>G | ||||||
|
chr17:81147629
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0004a0001c0011others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(323): Show | 348 | 368 | 0.9457 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-13128T>C | ||||||
|
chr17:81147678
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(105): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0011others(27): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(96): Show | 108 | 368 | 0.2935 | 0 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-13177G>A | ||||||
|
chr17:81148064
|
CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(96): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0011others(21): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(24): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(87): Show | 99 | 368 | 0.2690 | -12 | AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | c.56-13575_56-13564delTTTTTTTTTTTT | ||||||
|
chr17:81148810
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(113): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(32): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(36): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(104): Show |