| geneid | 18 |
|---|---|
| ensemblid | ENSG00000183044.12 |
| hgncid | 23 |
| symbol | ABAT |
| name | 4-aminobutyrate aminotransferase |
| refseq_nuc | NM_020686.6 |
| refseq_prot | NP_065737.2 |
| ensembl_nuc | ENST00000268251.13 |
| ensembl_prot | ENSP00000268251.8 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 8674617 |
| end | 8784570 |
| strand | + |
| ver | v1.2 |
| region | chr16:8674617-8784570 |
| region5000 | chr16:8669617-8789570 |
| regionname0 | ABAT_chr16_8674617_8784570 |
| regionname5000 | ABAT_chr16_8669617_8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8746097
|
A | G | 0.5414 | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(193): Show | 196 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3/16 | c.167A>G | p.Gln56Arg | 303/4779 | 167/1503 | 56/500 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8781672
|
G | T | 0.3757 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(133): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(29): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(133): Show | 136 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*242G>T | 242 | |||||
|
chr16:8781942
|
G | A | 0.3702 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(131): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(131): Show | 134 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*512G>A | 512 | |||||
|
chr16:8782345
|
C | G | 0.3840 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(31): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(136): Show | 139 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*915C>G | 915 | |||||
|
chr16:8782420
|
G | C | 0.6354 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(227): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(227): Show | 230 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*990G>C | 990 | |||||
|
chr16:8782561
|
G | A | 0.5939 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(212): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(212): Show | 215 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1131G>A | 1131 | |||||
|
chr16:8783023
|
T | A | 0.3812 | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(135): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(30): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(135): Show | 138 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1593T>A | 1593 | |||||
|
chr16:8783363
|
T | C | 0.9337 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(335): Show | 338 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1933T>C | 1933 | |||||
|
chr16:8783544
|
G | A | 0.6326 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(226): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(226): Show | 229 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*2114G>A | 2114 | |||||
|
chr16:8783997
|
C | G | 0.6298 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(225): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(50): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(225): Show | 228 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*2567C>G | 2567 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8674941
|
C | A | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02717.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0002g0006others(11): Show | 14 | 362 | 0.0387 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+230C>A | ||||||
|
chr16:8675710
|
C | A | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0011a0001c0001t0001g0227a0001c0001t0002g0034others(18): Show | 21 | 362 | 0.0580 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+999C>A | ||||||
|
chr16:8675711
|
A | C | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0011a0001c0001t0001g0227a0001c0001t0002g0034others(18): Show | 21 | 362 | 0.0580 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+1000A>C | ||||||
|
chr16:8675769
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01074.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0227others(50): Show | 53 | 362 | 0.1464 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+1058G>A | ||||||
|
chr16:8675857
|
C | G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 362 | 0.0028 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+1146C>G | ||||||
|
chr16:8676245
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01074.hp1 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0239others(38): Show | 41 | 362 | 0.1133 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+1534G>A | ||||||
|
chr16:8676443
|
C | G | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02896.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0002g0006others(5): Show | 8 | 362 | 0.0221 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+1732C>G | ||||||
|
chr16:8676735
|
C | G | intron_variant | MODIFIER | HG02896.hp1 HG03486.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0007g0009 | 3 | 362 | 0.0083 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+2024C>G | ||||||
|
chr16:8678487
|
C | G | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0001g0345others(1): Show | 4 | 362 | 0.0111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+3776C>G | ||||||
|
chr16:8679386
|
G | A | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0001g0345others(1): Show | 4 | 362 | 0.0111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+4675G>A | ||||||
|
chr16:8679455
|
C | T | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0001g0345others(1): Show | 4 | 362 | 0.0111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+4744C>T | ||||||
|
chr16:8680302
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(193): Show | 196 | 362 | 0.5414 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+5591T>C | ||||||
|
chr16:8680333
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(201): Show | 204 | 362 | 0.5635 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+5622T>A | ||||||
|
chr16:8680981
|
TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(185): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0076others(185): Show | 188 | 362 | 0.5193 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+6271delC | ||||||
|
chr16:8680984
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(199): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(199): Show | 202 | 362 | 0.5580 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+6273A>T | ||||||
|
chr16:8681458
|
C | CT | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02055.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0001others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0239a0001c0001t0001g0246others(14): Show | 17 | 362 | 0.0470 | 1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+6763dupT | INFO_REALIGN_3_PRIME | |||||
|
chr16:8681604
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+6893T>C | ||||||
|
chr16:8681641
|
CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(190): Show | 193 | 362 | 0.5332 | -3 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+6946_-42+6948delTTT | INFO_REALIGN_3_PRIME | |||||
|
chr16:8682400
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+7689C>T | ||||||
|
chr16:8682403
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+7692T>C | ||||||
|
chr16:8682552
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+7841C>G | ||||||
|
chr16:8682612
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+7902delT | ||||||
|
chr16:8682699
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+7988C>T | ||||||
|
chr16:8682700
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(263): Show | 266 | 362 | 0.7348 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+7989A>G | ||||||
|
chr16:8682818
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+8107T>A | ||||||
|
chr16:8683127
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+8416G>A | ||||||
|
chr16:8683551
|
T | TAA | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03239.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0001g0011a0001c0001t0005g0127a0001c0003t0001g0035others(5): Show | 8 | 362 | 0.0221 | 2 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+8851_-42+8852dupAA | INFO_REALIGN_3_PRIME | |||||
|
chr16:8683564
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+8853G>A | ||||||
|
chr16:8683600
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(263): Show | 266 | 362 | 0.7348 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+8889T>A | ||||||
|
chr16:8683623
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+8912T>C | ||||||
|
chr16:8683706
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+8995G>T | ||||||
|
chr16:8683728
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9017T>C | ||||||
|
chr16:8683750
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9039A>G | ||||||
|
chr16:8683770
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9059C>A | ||||||
|
chr16:8683787
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9076T>G | ||||||
|
chr16:8683803
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9092A>G | ||||||
|
chr16:8683822
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9111T>C | ||||||
|
chr16:8683824
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9113A>G | ||||||
|
chr16:8683868
|
C | CATTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 4 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9157_-42+9158insATTT | ||||||
|
chr16:8683888
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9177T>G | ||||||
|
chr16:8683964
|
CAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | -2 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9269_-42+9270delGA | INFO_REALIGN_3_PRIME | |||||
|
chr16:8684047
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(212): Show | 215 | 362 | 0.5939 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9336G>C | ||||||
|
chr16:8684230
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9519C>G | ||||||
|
chr16:8684294
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(214): Show | 217 | 362 | 0.5995 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9583A>C | ||||||
|
chr16:8684700
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(343): Show | 346 | 362 | 0.9558 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+9989A>G | ||||||
|
chr16:8684722
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0058others(196): Show | 199 | 362 | 0.5497 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+10028delA | INFO_REALIGN_3_PRIME | |||||
|
chr16:8685275
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(182): Show | 185 | 362 | 0.5111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+10564C>G | ||||||
|
chr16:8685384
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(192): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(192): Show | 195 | 362 | 0.5387 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+10673T>C | ||||||
|
chr16:8685633
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+10922G>A | ||||||
|
chr16:8685663
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+10952A>G | ||||||
|
chr16:8685733
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(202): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(202): Show | 205 | 362 | 0.5663 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+11022C>A | ||||||
|
chr16:8685828
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(182): Show | 185 | 362 | 0.5111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+11117C>G | ||||||
|
chr16:8686287
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(215): Show | 218 | 362 | 0.6022 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+11576A>G | ||||||
|
chr16:8687165
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(250): Show | 253 | 362 | 0.6989 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+12454G>C | ||||||
|
chr16:8687653
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(136): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0011a0001c0001t0001g0058a0001c0001t0001g0059others(136): Show | 139 | 362 | 0.3840 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+12942C>T | ||||||
|
chr16:8688076
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(162): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(162): Show | 165 | 362 | 0.4558 | 1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+13373dupT | INFO_REALIGN_3_PRIME | |||||
|
chr16:8688713
|
G | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(151): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(151): Show | 154 | 362 | 0.4254 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+14002G>A | ||||||
|
chr16:8688721
|
G | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(151): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(151): Show | 154 | 362 | 0.4254 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+14010G>A | ||||||
|
chr16:8688971
|
T | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(152): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(152): Show | 155 | 362 | 0.4282 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+14260T>A | ||||||
|
chr16:8689100
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(175): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(175): Show | 178 | 362 | 0.4917 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+14389T>C | ||||||
|
chr16:8689114
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(169): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(169): Show | 172 | 362 | 0.4751 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+14403G>A | ||||||
|
chr16:8689634
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(170): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(170): Show | 173 | 362 | 0.4779 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+14923T>C | ||||||
|
chr16:8689660
|
G | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(147): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(147): Show | 150 | 362 | 0.4144 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+14949G>C | ||||||
|
chr16:8690609
|
C | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(127): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0011a0001c0001t0001g0059a0001c0001t0001g0090others(127): Show | 130 | 362 | 0.3591 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+15898C>T | ||||||
|
chr16:8690975
|
G | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(122): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0011a0001c0001t0001g0059a0001c0001t0001g0090others(122): Show | 125 | 362 | 0.3453 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16264G>C | ||||||
|
chr16:8691048
|
GA | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(135): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(135): Show | 138 | 362 | 0.3812 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16348delA | INFO_REALIGN_3_PRIME | |||||
|
chr16:8691337
|
C | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(134): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(134): Show | 137 | 362 | 0.3785 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16626C>G | ||||||
|
chr16:8691486
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(164): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(164): Show | 167 | 362 | 0.4613 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16775T>C | ||||||
|
chr16:8691515
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(164): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(164): Show | 167 | 362 | 0.4613 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16804A>C | ||||||
|
chr16:8691533
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(164): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(164): Show | 167 | 362 | 0.4613 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16822G>C | ||||||
|
chr16:8691604
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(158): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(158): Show | 161 | 362 | 0.4448 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16893A>T | ||||||
|
chr16:8691688
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(159): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(159): Show | 162 | 362 | 0.4475 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16977C>G | ||||||
|
chr16:8691704
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(158): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(158): Show | 161 | 362 | 0.4448 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+16994delT | ||||||
|
chr16:8691733
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(158): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(158): Show | 161 | 362 | 0.4448 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+17022G>A | ||||||
|
chr16:8692273
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(164): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(164): Show | 167 | 362 | 0.4613 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+17562C>T | ||||||
|
chr16:8693104
|
C | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(147): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(147): Show | 150 | 362 | 0.4144 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+18393C>T | ||||||
|
chr16:8693530
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(175): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(175): Show | 178 | 362 | 0.4917 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+18819A>G | ||||||
|
chr16:8694193
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(161): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0011a0001c0001t0001g0058a0001c0001t0001g0059others(161): Show | 164 | 362 | 0.4530 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+19500delT | INFO_REALIGN_3_PRIME | |||||
|
chr16:8694325
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(170): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(170): Show | 173 | 362 | 0.4779 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+19614C>G | ||||||
|
chr16:8694492
|
G | A | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0001g0345others(1): Show | 4 | 362 | 0.0111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+19781G>A | ||||||
|
chr16:8694739
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(358): Show | 361 | 362 | 0.9972 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+20028C>G | ||||||
|
chr16:8694886
|
C | G | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0001g0345others(1): Show | 4 | 362 | 0.0111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+20175C>G | ||||||
|
chr16:8695590
|
C | T | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0001g0345others(1): Show | 4 | 362 | 0.0111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+20879C>T | ||||||
|
chr16:8696518
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0058a0002c0002t0001g0010others(10): Show | 13 | 362 | 0.0359 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-42+21807T>G | ||||||
|
chr16:8706240
|
T | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0011a0001c0001t0001g0059a0001c0001t0001g0122others(85): Show | 88 | 362 | 0.2431 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-41-29459T>A | ||||||
|
chr16:8708735
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(355): Show | 358 | 362 | 0.9890 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-41-26964A>G | ||||||
|
chr16:8714944
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(358): Show | 361 | 362 | 0.9972 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-41-20755A>G | ||||||
|
chr16:8715633
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(206): Show | 209 | 362 | 0.5774 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-41-20043delA | INFO_REALIGN_3_PRIME | |||||
|
chr16:8723527
|
G | A | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0001g0011a0002c0002t0001g0345a0002c0002t0006g0353others(1): Show | 4 | 362 | 0.0111 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-41-12172G>A | ||||||
|
chr16:8723827
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(113): Show | 116 | 362 | 0.3204 | -1 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-41-11841delT | INFO_REALIGN_3_PRIME | |||||
|
chr16:8723830
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0059others(117): Show | 120 | 362 | 0.3315 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | c.-41-11869T>A | ||||||
|
chr16:8724268
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |