| geneid | 144568 |
|---|---|
| ensemblid | ENSG00000166535.20 |
| hgncid | 23336 |
| symbol | A2ML1 |
| name | alpha-2-macroglobulin like 1 |
| refseq_nuc | NM_144670.6 |
| refseq_prot | NP_653271.3 |
| ensembl_nuc | ENST00000299698.12 |
| ensembl_prot | ENSP00000299698.7 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 8822621 |
| end | 8876787 |
| strand | + |
| ver | v1.2 |
| region | chr12:8822621-8876787 |
| region5000 | chr12:8817621-8881787 |
| regionname0 | A2ML1_chr12_8822621_8876787 |
| regionname5000 | A2ML1_chr12_8817621_8881787 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8852296
|
C | A | 0.9511 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/36 | c.2550C>A | p.Asp850Glu | 2581/5127 | 2550/4365 | 850/1454 | ||
|
chr12:8863860
|
C | T | 0.0109 | missense_variant | MODERATE | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | c.3569C>T | p.Ala1190Val | 3600/5127 | 3569/4365 | 1190/1454 | ||
|
chr12:8863977
|
A | G | 0.9511 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | c.3686A>G | p.His1229Arg | 3717/5127 | 3686/4365 | 1229/1454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8868316
|
A | G | 0.6603 | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(240): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0035others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(235): Show | 243 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 31/36 | c.4020A>G | p.Gln1340Gln | 4051/5127 | 4020/4365 | 1340/1454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8876093
|
AT | A | 0.6630 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(241): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0008others(47): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(59): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(235): Show | 244 | 368 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 36/36 | c.*40delT | 1085 | INFO_REALIGN_3_PRIME | ||||
|
chr12:8876522
|
G | A | 0.4103 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(148): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(30): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(145): Show | 151 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 36/36 | c.*466G>A | 1511 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8823009
|
A | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(145): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0006others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(43): Show | a0001c0001t0001g0244a0001c0001t0001g0271a0001c0001t0001g0272others(141): Show | 148 | 368 | 0.4022 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 1/35 | c.63-173A>G | ||||||
|
chr12:8824168
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064others(200): Show | 207 | 368 | 0.5625 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+286A>G | ||||||
|
chr12:8824184
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(94): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0060others(19): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(23): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064others(90): Show | 97 | 368 | 0.2636 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+302T>C | ||||||
|
chr12:8825239
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(364): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0002a0001c0006others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(357): Show | 367 | 368 | 0.9973 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+1357A>G | ||||||
|
chr12:8826064
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(360): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(353): Show | 363 | 368 | 0.9864 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+2182T>C | ||||||
|
chr12:8826334
|
T | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01243.hp1 others(1): Show |
a0005a0011 | a0005c0009a0011c0016 | a0005c0009t0001a0011c0016t0006 | a0005c0009t0001g0340a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.409+2452T>C | ||||||
|
chr12:8829654
|
C | CA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(47): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0006others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(27): Show | a0001c0001t0001g0136a0001c0001t0001g0171a0001c0001t0001g0174others(46): Show | 50 | 368 | 0.1359 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | c.410-51dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8834821
|
A | G | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(8): Show |
a0002a0004a0009others(2): Show | a0002c0003a0004c0029a0004c0045others(4): Show | a0002c0003t0002a0004c0029t0004a0004c0045t0004others(4): Show | a0002c0003t0002g0347a0004c0029t0004g0007a0004c0045t0004g0123others(7): Show | 11 | 368 | 0.0299 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 5/35 | c.483+139A>G | ||||||
|
chr12:8835807
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0006others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(338): Show | 348 | 368 | 0.9457 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.643+141A>C | ||||||
|
chr12:8835946
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0006others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(338): Show | 348 | 368 | 0.9457 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.643+280C>G | ||||||
|
chr12:8836068
|
A | G | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(9): Show |
a0002a0004a0009others(2): Show | a0002c0003a0004c0014a0004c0029others(5): Show | a0002c0003t0002a0004c0014t0004a0004c0029t0004others(5): Show | a0002c0003t0002g0347a0004c0014t0004g0215a0004c0029t0004g0007others(8): Show | 12 | 368 | 0.0326 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/35 | c.644-187A>G | ||||||
|
chr12:8836481
|
CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(76): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0006others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(33): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0116others(74): Show | 79 | 368 | 0.2147 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.728+161delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8836676
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0.9511 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.728+337A>G | ||||||
|
chr12:8836714
|
C | A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(10): Show |
a0002a0004a0009others(3): Show | a0002c0003a0004c0014a0004c0029others(6): Show | a0002c0003t0002a0004c0014t0004a0004c0029t0004others(6): Show | a0002c0003t0002g0347a0004c0014t0004g0215a0004c0029t0004g0007others(9): Show | 13 | 368 | 0.0353 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.728+375C>A | ||||||
|
chr12:8836949
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0006others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(339): Show | 349 | 368 | 0.9484 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 7/35 | c.729-491G>T | ||||||
|
chr12:8837805
|
G | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01167.hp2 others(22): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0002others(10): Show | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0140others(21): Show | 25 | 368 | 0.0679 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 8/35 | c.855+239G>A | ||||||
|
chr12:8838831
|
C | T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0003a0004c0014others(7): Show | a0001c0001t0001a0002c0003t0002a0004c0014t0004others(7): Show | a0001c0001t0001g0071a0002c0003t0002g0347a0004c0014t0004g0215others(10): Show | 14 | 368 | 0.0380 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 9/35 | c.971-282C>T | ||||||
|
chr12:8838914
|
TA | T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01168.hp2 others(33): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(24): Show | a0001c0001t0001g0071a0001c0001t0003g0008a0001c0001t0003g0157others(32): Show | 36 | 368 | 0.0978 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 9/35 | c.971-177delA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8839402
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+180C>A | ||||||
|
chr12:8839526
|
C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+304_1080+305insT | ||||||
|
chr12:8840272
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0002a0001c0006others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(316): Show | 326 | 368 | 0.8859 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1080+1050A>G | ||||||
|
chr12:8840582
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-787G>A | ||||||
|
chr12:8840840
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(6): Show |
a0004a0011a0030 | a0004c0029a0004c0045a0004c0053others(2): Show | a0004c0029t0004a0004c0045t0004a0004c0053t0004others(2): Show | a0004c0029t0004g0007a0004c0045t0004g0123a0004c0053t0004g0344others(5): Show | 9 | 368 | 0.0245 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-529G>A | ||||||
|
chr12:8840978
|
AGAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01167.hp2 others(12): Show |
a0002a0004a0006others(5): Show | a0002c0003a0004c0029a0004c0045others(7): Show | a0002c0003t0002a0004c0029t0004a0004c0045t0004others(7): Show | a0002c0003t0002g0347a0004c0029t0004g0007a0004c0045t0004g0123others(11): Show | 15 | 368 | 0.0408 | -4 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-360_1081-357delAGGA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8841013
|
CGGAAGGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(316): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(309): Show | 319 | 368 | 0.8669 | -8 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | c.1081-339_1081-332delGGAAGGAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8841616
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(332): Show | 342 | 368 | 0.9294 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1248+80T>C | ||||||
|
chr12:8842191
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0006others(39): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(47): Show | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0116others(140): Show | 147 | 368 | 0.3995 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1248+655C>T | ||||||
|
chr12:8842221
|
CT | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0004others(5): Show | a0001c0001t0001a0002c0003t0002a0002c0004t0003others(5): Show | a0001c0001t0001g0281a0002c0003t0002g0347a0002c0004t0003g0074others(8): Show | 12 | 368 | 0.0326 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1248+699delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8842409
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01167.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0029others(4): Show | a0001c0001t0008a0002c0003t0001a0004c0029t0004others(4): Show | a0001c0001t0008g0100a0001c0001t0008g0101a0002c0003t0001g0089others(8): Show | 12 | 368 | 0.0326 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-725T>C | ||||||
|
chr12:8842542
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(354): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(347): Show | 357 | 368 | 0.9701 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/35 | c.1249-592T>A | ||||||
|
chr12:8843981
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01167.hp2 others(27): Show |
a0002a0004a0006others(12): Show | a0002c0004a0004c0029a0004c0042others(16): Show | a0002c0004t0003a0004c0029t0004a0004c0042t0002others(16): Show | a0002c0004t0003g0124a0004c0029t0004g0007a0004c0042t0002g0013others(26): Show | 30 | 368 | 0.0815 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/35 | c.1476+620G>A | ||||||
|
chr12:8844261
|
C | CT | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01167.hp2 others(26): Show |
a0002a0003a0004others(12): Show | a0002c0004a0003c0010a0004c0029others(16): Show | a0002c0004t0003a0003c0010t0003a0004c0029t0004others(16): Show | a0002c0004t0003g0124a0003c0010t0003g0084a0004c0029t0004g0007others(25): Show | 29 | 368 | 0.0788 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/35 | c.1476+915dupT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8844866
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01167.hp2 others(16): Show |
a0002a0004a0006others(6): Show | a0002c0004a0004c0029a0004c0042others(9): Show | a0002c0004t0003a0004c0029t0004a0004c0042t0002others(9): Show | a0002c0004t0003g0124a0004c0029t0004g0007a0004c0042t0002g0013others(15): Show | 19 | 368 | 0.0516 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/35 | c.1477-576G>A | ||||||
|
chr12:8845245
|
G | T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01167.hp2 others(41): Show |
a0001a0002a0004others(16): Show | a0001c0001a0002c0004a0002c0061others(24): Show | a0001c0001t0001a0002c0004t0003a0002c0061t0004others(24): Show | a0001c0001t0001g0271a0001c0001t0001g0272a0002c0004t0003g0124others(40): Show | 44 | 368 | 0.1196 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/35 | c.1477-197G>T | ||||||
|
chr12:8845861
|
AAAATAAA others(16): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(7): Show |
a0004a0011a0030others(1): Show | a0004c0029a0004c0045a0004c0053others(3): Show | a0004c0029t0004a0004c0045t0004a0004c0053t0004others(3): Show | a0004c0029t0004g0007a0004c0045t0004g0123a0004c0053t0004g0344others(6): Show | 10 | 368 | 0.0272 | -23 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | c.1538-212_1538-190delTAAATAAAATAAAATAAAATAAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8845889
|
T | A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01168.hp1 others(17): Show |
a0004a0010a0011others(6): Show | a0004c0029a0004c0045a0004c0053others(9): Show | a0004c0029t0004a0004c0045t0004a0004c0053t0004others(9): Show | a0004c0029t0004g0007a0004c0045t0004g0123a0004c0053t0004g0344others(16): Show | 20 | 368 | 0.0544 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | c.1538-188T>A | ||||||
|
chr12:8846296
|
A | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(38): Show |
a0002a0004a0006others(13): Show | a0002c0004a0002c0061a0004c0014others(21): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(22): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(37): Show | 41 | 368 | 0.1114 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1683+74A>G | ||||||
|
chr12:8846608
|
C | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(34): Show |
a0002a0004a0006others(11): Show | a0002c0004a0002c0061a0004c0014others(19): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(20): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(33): Show | 37 | 368 | 0.1005 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1683+386C>T | ||||||
|
chr12:8846609
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(360): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0002a0001c0006others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(353): Show | 363 | 368 | 0.9864 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1683+387T>C | ||||||
|
chr12:8846630
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01167.hp2 others(12): Show |
a0004a0009a0011others(2): Show | a0004c0029a0004c0042a0004c0045others(5): Show | a0004c0029t0004a0004c0042t0002a0004c0045t0004others(6): Show | a0004c0029t0004g0007a0004c0042t0002g0013a0004c0045t0004g0123others(11): Show | 15 | 368 | 0.0408 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1683+408G>A | ||||||
|
chr12:8846810
|
C | CA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(37): Show |
a0002a0004a0006others(13): Show | a0002c0004a0002c0061a0004c0014others(21): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(22): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(36): Show | 40 | 368 | 0.1087 | 1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1683+605dupA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8847137
|
CG | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01167.hp2 others(26): Show |
a0002a0004a0009others(8): Show | a0002c0061a0004c0014a0004c0029others(14): Show | a0002c0061t0004a0004c0014t0004a0004c0029t0004others(15): Show | a0002c0061t0004g0314a0004c0014t0004g0159a0004c0014t0004g0215others(25): Show | 29 | 368 | 0.0788 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1684-408delG | INFO_REALIGN_3_PRIME | |||||
|
chr12:8847245
|
TAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01167.hp2 others(30): Show |
a0002a0004a0009others(10): Show | a0002c0004a0002c0061a0004c0014others(18): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(19): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(29): Show | 33 | 368 | 0.0897 | -3 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | c.1684-287_1684-285delAAA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8847892
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/35 | c.1833+194T>C | ||||||
|
chr12:8847911
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/35 | c.1833+213T>C | ||||||
|
chr12:8847987
|
GA | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(194): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0006others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(189): Show | 197 | 368 | 0.5353 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/35 | c.1833+305delA | INFO_REALIGN_3_PRIME | |||||
|
chr12:8848014
|
A | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(44): Show |
a0002a0004a0006others(16): Show | a0002c0004a0002c0061a0004c0014others(25): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(26): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(43): Show | 47 | 368 | 0.1277 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/35 | c.1833+316A>G | ||||||
|
chr12:8848016
|
G | GGT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/35 | c.1833+319_1833+320insTG | INFO_REALIGN_3_PRIME | |||||
|
chr12:8848068
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/35 | c.1833+370T>C | ||||||
|
chr12:8849121
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 16/35 | c.2028+207T>C | ||||||
|
chr12:8849393
|
C | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 16/35 | c.2029-276C>G | ||||||
|
chr12:8850336
|
A | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | c.2234+62A>G | ||||||
|
chr12:8850431
|
T | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(39): Show |
a0002a0004a0006others(14): Show | a0002c0004a0002c0061a0004c0014others(22): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(23): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(38): Show | 42 | 368 | 0.1141 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | c.2234+157T>A | ||||||
|
chr12:8850769
|
G | T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(11): Show |
a0002a0004a0011others(4): Show | a0002c0004a0004c0029a0004c0045others(6): Show | a0002c0004t0003a0004c0029t0004a0004c0045t0004others(6): Show | a0002c0004t0003g0124a0004c0029t0004g0007a0004c0045t0004g0123others(10): Show | 14 | 368 | 0.0380 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | c.2234+495G>T | ||||||
|
chr12:8851269
|
A | T | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(12): Show |
a0002a0004a0011others(5): Show | a0002c0004a0004c0029a0004c0045others(7): Show | a0002c0004t0003a0004c0029t0004a0004c0045t0004others(7): Show | a0002c0004t0003g0124a0004c0029t0004g0007a0004c0045t0004g0123others(11): Show | 15 | 368 | 0.0408 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/35 | c.2235-515A>T | ||||||
|
chr12:8853281
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(359): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(352): Show | 362 | 368 | 0.9837 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/35 | c.2591-847T>C | ||||||
|
chr12:8854896
|
A | ATT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(24): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0017others(8): Show | a0001c0001t0001a0001c0002t0002a0002c0017t0003others(8): Show | a0001c0001t0001g0145a0001c0001t0001g0171a0001c0001t0001g0176others(24): Show | 27 | 368 | 0.0734 | 2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 22/35 | c.2764+80_2764+81dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8856013
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(359): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(352): Show | 362 | 368 | 0.9837 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | c.2848+421G>T | ||||||
|
chr12:8857011
|
G | T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | c.2849-153G>T | ||||||
|
chr12:8857403
|
T | TAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(99): Show |
a0002a0003a0004others(16): Show | a0002c0004a0002c0007a0003c0005others(28): Show | a0002c0004t0001a0002c0004t0003a0002c0007t0001others(33): Show | a0002c0004t0001g0299a0002c0004t0001g0338a0002c0004t0003g0002others(96): Show | 102 | 368 | 0.2772 | 2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 24/35 | c.3025+63_3025+64insAA | ||||||
|
chr12:8857630
|
A | G | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 25/35 | c.3107+42A>G | ||||||
|
chr12:8858463
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/35 | c.3264+361G>A | ||||||
|
chr12:8859302
|
A | T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/35 | c.3264+1200A>T | ||||||
|
chr12:8859305
|
C | A | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/35 | c.3264+1203C>A | ||||||
|
chr12:8859742
|
T | G | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/35 | c.3265-1139T>G | ||||||
|
chr12:8860198
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(359): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(352): Show | 362 | 368 | 0.9837 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/35 | c.3265-683T>C | ||||||
|
chr12:8862003
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+706A>G | ||||||
|
chr12:8862121
|
T | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp1 others(78): Show |
a0002a0004a0009others(13): Show | a0002c0003a0002c0017a0002c0061others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(27): Show | a0002c0003t0001g0047a0002c0003t0001g0052a0002c0003t0001g0059others(76): Show | 81 | 368 | 0.2201 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+824T>C | ||||||
|
chr12:8862159
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+862T>C | ||||||
|
chr12:8862191
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+894T>A | ||||||
|
chr12:8862195
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+898T>A | ||||||
|
chr12:8862444
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+1147C>T | ||||||
|
chr12:8862456
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+1159T>C | ||||||
|
chr12:8862459
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3502+1162T>C | ||||||
|
chr12:8862562
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-1232T>A | ||||||
|
chr12:8862763
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-1031G>A | ||||||
|
chr12:8862815
|
C | CAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-979_3503-978insAT | ||||||
|
chr12:8862899
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-895G>T | ||||||
|
chr12:8863024
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-770G>A | ||||||
|
chr12:8863025
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-769G>A | ||||||
|
chr12:8863104
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(270): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0006others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(265): Show | 273 | 368 | 0.7419 | -1 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-676delT | INFO_REALIGN_3_PRIME | |||||
|
chr12:8863167
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-627C>T | ||||||
|
chr12:8863253
|
C | T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0011 | a0011c0016 | a0011c0016t0006 | a0011c0016t0006g0108a0011c0016t0006g0341a0011c0016t0006g0342others(1): Show | 4 | 368 | 0.0109 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-541C>T | ||||||
|
chr12:8863262
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(150): Show |
a0002a0003a0004others(19): Show | a0002c0003a0002c0004a0002c0007others(35): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(47): Show | a0002c0003t0001g0047a0002c0003t0001g0052a0002c0003t0001g0059others(146): Show | 153 | 368 | 0.4158 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-532A>G | ||||||
|
chr12:8863264
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show | 339 | 368 | 0.9212 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-530G>A | ||||||
|
chr12:8863611
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(335): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(328): Show | 338 | 368 | 0.9185 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | c.3503-183A>G | ||||||
|
chr12:8863613
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(329): Show |