| geneid | 2 |
|---|---|
| ensemblid | ENSG00000175899.15 |
| hgncid | 7 |
| symbol | A2M |
| name | alpha-2-macroglobulin |
| refseq_nuc | NM_000014.6 |
| refseq_prot | NP_000005.3 |
| ensembl_nuc | ENST00000318602.12 |
| ensembl_prot | ENSP00000323929.8 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 9067708 |
| end | 9115919 |
| strand | - |
| ver | v1.2 |
| region | chr12:9067708-9115919 |
| region5000 | chr12:9062708-9120919 |
| regionname0 | A2M_chr12_9067708_9115919 |
| regionname5000 | A2M_chr12_9062708_9120919 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9095637
|
T | C | 0.9910 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(272): Show | 329 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 16/36 | c.1915A>G | p.Asn639Asp | 1985/4610 | 1915/4425 | 639/1474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9115877
|
A | C | 0.4368 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/36 | c.-28T>G | 28 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9068603
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0207a0001c0001t0002g0002a0001c0001t0002g0005others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 34/35 | c.4366+137C>T | ||||||
|
chr12:9069507
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(45): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(36): Show | 48 | 332 | 0.1446 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 33/35 | c.4263+238A>G | ||||||
|
chr12:9070646
|
A | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(45): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(36): Show | 48 | 332 | 0.1446 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-68T>G | ||||||
|
chr12:9070851
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(196): Show | 243 | 332 | 0.7319 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 31/35 | c.4104-273T>C | ||||||
|
chr12:9074087
|
T | TA | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00738.hp1 others(62): Show |
a0001a0004a0012others(1): Show | a0001c0001a0001c0003a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0029a0001c0001t0001g0159others(51): Show | 65 | 332 | 0.1958 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/35 | c.3756+472dupT | ||||||
|
chr12:9075191
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3533-408G>C | ||||||
|
chr12:9075773
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | c.3532+983C>T | ||||||
|
chr12:9078282
|
A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(139): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(116): Show | 142 | 332 | 0.4277 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/35 | c.3120-426_3120-425insG | ||||||
|
chr12:9080816
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-639C>T | ||||||
|
chr12:9080951
|
T | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-774A>C | ||||||
|
chr12:9081413
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(117): Show | 143 | 332 | 0.4307 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-1236C>A | ||||||
|
chr12:9082449
|
A | G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(48): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0002a0001c0003t0002a0001c0015t0002others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(39): Show | 51 | 332 | 0.1536 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-2272T>C | ||||||
|
chr12:9082621
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-2444A>G | ||||||
|
chr12:9083994
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(117): Show | 143 | 332 | 0.4307 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-3817A>C | ||||||
|
chr12:9084506
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-4329G>A | ||||||
|
chr12:9084646
|
A | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2771-4469T>G | ||||||
|
chr12:9085714
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+3486A>G | ||||||
|
chr12:9085983
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+3217T>C | ||||||
|
chr12:9086306
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2894A>G | ||||||
|
chr12:9086426
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2774C>A | ||||||
|
chr12:9086638
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2562G>A | ||||||
|
chr12:9087138
|
GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | -1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+2061delT | ||||||
|
chr12:9087242
|
A | ATGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 4 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | c.2770+1954_2770+1957dupGACA | ||||||
|
chr12:9090027
|
A | T | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 20/35 | c.2597-4T>A | ||||||
|
chr12:9091671
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 18/35 | c.2241-242G>A | ||||||
|
chr12:9092605
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 18/35 | c.2240+860G>C | ||||||
|
chr12:9092873
|
G | A | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050a0001c0001t0002g0053a0001c0001t0002g0056 | 3 | 332 | 0.0090 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 18/35 | c.2240+592C>T | ||||||
|
chr12:9093183
|
C | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(78): Show |
a0001a0002a0012others(3): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(10): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(66): Show | 81 | 332 | 0.2440 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 18/35 | c.2240+282G>A | ||||||
|
chr12:9093580
|
CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | -5 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | c.2126-6_2126-2delCCATA | ||||||
|
chr12:9093758
|
T | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(78): Show |
a0001a0002a0012others(3): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(10): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(66): Show | 81 | 332 | 0.2440 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | c.2126-179A>T | ||||||
|
chr12:9093891
|
TCAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(48): Show |
a0001a0004a0012others(1): Show | a0001c0001a0001c0003a0001c0021others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(4): Show | a0001c0001t0001g0154a0001c0001t0002g0002a0001c0001t0002g0012others(39): Show | 51 | 332 | 0.1536 | -4 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | c.2126-316_2126-313delTTTG | ||||||
|
chr12:9094340
|
C | CAT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(124): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0011others(97): Show | 127 | 332 | 0.3825 | 2 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | c.2125+631_2125+632dupAT | ||||||
|
chr12:9095742
|
C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02145.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(1): Show | a0001c0001t0002g0050a0001c0001t0002g0053a0001c0001t0002g0054others(6): Show | 9 | 332 | 0.0271 | 3 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1852-45_1852-43dupAAA | ||||||
|
chr12:9097157
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+1450A>G | ||||||
|
chr12:9097278
|
AC | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | -1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+1328delG | ||||||
|
chr12:9097280
|
A | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+1327T>A | ||||||
|
chr12:9097632
|
C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(44): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(35): Show | 47 | 332 | 0.1416 | 6 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+969_1851+974dupAAAAAA | ||||||
|
chr12:9097863
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+744A>G | ||||||
|
chr12:9097871
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+736A>C | ||||||
|
chr12:9098005
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+602A>G | ||||||
|
chr12:9098287
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+320A>G | ||||||
|
chr12:9098430
|
TTA | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(49): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0002a0001c0003t0002a0001c0009t0002others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(40): Show | 52 | 332 | 0.1566 | -2 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+175_1851+176delTA | ||||||
|
chr12:9098449
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(195): Show | 241 | 332 | 0.7259 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | c.1851+158A>T | ||||||
|
chr12:9099028
|
C | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(50): Show |
a0001a0012a0015others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0002a0001c0003t0002a0001c0009t0002others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(41): Show | 53 | 332 | 0.1596 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 14/35 | c.1702-272G>A | ||||||
|
chr12:9100720
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(272): Show | 329 | 332 | 0.9910 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 13/35 | c.1558+424C>T | ||||||
|
chr12:9101298
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(248): Show | 302 | 332 | 0.9096 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/35 | c.1495-91G>A | ||||||
|
chr12:9101789
|
T | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(48): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(39): Show | 51 | 332 | 0.1536 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1267-115A>T | ||||||
|
chr12:9101826
|
G | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(48): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(39): Show | 51 | 332 | 0.1536 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1267-152C>G | ||||||
|
chr12:9102438
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1267-764A>T | ||||||
|
chr12:9103623
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(48): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(39): Show | 51 | 332 | 0.1536 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+616A>G | ||||||
|
chr12:9103659
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(120): Show | 146 | 332 | 0.4398 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+580G>A | ||||||
|
chr12:9103758
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+481C>T | ||||||
|
chr12:9104112
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/35 | c.1266+127G>A | ||||||
|
chr12:9104529
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(118): Show | 144 | 332 | 0.4337 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 10/35 | c.1105-130dupT | ||||||
|
chr12:9106735
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 8/35 | c.880-131dupT | ||||||
|
chr12:9107311
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 8/35 | c.879+213A>G | ||||||
|
chr12:9107684
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0215a0001c0001t0002g0002a0001c0001t0002g0005others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.759-40A>G | ||||||
|
chr12:9108099
|
GTTTATTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(130): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(109): Show | 133 | 332 | 0.4006 | -15 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.759-470_759-456delATAAAATAAAATAAA | ||||||
|
chr12:9108649
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.758+672T>C | ||||||
|
chr12:9108775
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.758+545_758+546insT | ||||||
|
chr12:9109034
|
T | TTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(139): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(10): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(116): Show | 142 | 332 | 0.4277 | 2 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | c.758+285_758+286dupCA | ||||||
|
chr12:9110131
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 5/35 | c.505-96A>C | ||||||
|
chr12:9110635
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(205): Show | 255 | 332 | 0.7681 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4/35 | c.484-301T>C | ||||||
|
chr12:9110946
|
A | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4/35 | c.484-612T>A | ||||||
|
chr12:9112723
|
G | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(68): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0003a0001c0015others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(57): Show | 71 | 332 | 0.2139 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 2/35 | c.271-187C>A | ||||||
|
chr12:9113105
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(141): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(118): Show | 144 | 332 | 0.4337 | -1 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 2/35 | c.270+254delA | ||||||
|
chr12:9113681
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(117): Show | 143 | 332 | 0.4307 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | c.87-138G>A | ||||||
|
chr12:9114734
|
AATAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | -4 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | c.86+1026_86+1029delGTAT | ||||||
|
chr12:9114963
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0.4368 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | c.86+801G>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/1 | a0001 | 1474 | 242 | 58 | 33 | 110 | 7 | 33 | subcellular location copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/1 | c0001 | 4425 | 214 | 47 | 27 | 108 | 7 | 24 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | t0002 | 186 | 144 | 61 | 32 | 27 | 4 | 20 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | g0053 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/1 | a0001c0001 | 214 | 47 | 27 | 108 | 7 | 24 | 4425 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0001c0001t0002 | 54 | 29 | 5 | 14 | 2 | 4 | 4610 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0001c0001t0002g0053 | 1 | 0 | 1 | 0 | 0 | 0 | chr12 | 9062708 | 9120919 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9115764 | - | 1 | -0.0734 | -0.0734 | -0.0734 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9113360 | - | 2 | -0.9889 | -0.9889 | -0.9889 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9113543 | - | 2 | 0.9913 | 0.9913 | 0.9913 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112377 | - | 3 | -0.9642 | -0.9642 | -0.9642 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112536 | - | 3 | 0.9519 | 0.9519 | 0.9519 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112159 | - | 4 | -0.9778 | -0.9778 | -0.9778 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9112211 | - | 4 | 0.9088 | 0.9088 | 0.9088 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9110314 | - | 5 | -0.9914 | -0.9914 | -0.9914 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9110334 | - | 5 | 0.9947 | 0.9947 | 0.9947 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9109867 | - | 6 | -0.9237 | -0.9237 | -0.9237 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9110035 | - | 6 | 0.1035 | 0.1035 | 0.1035 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9109321 | - | 7 | -0.9212 | -0.9212 | -0.9212 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9109405 | - | 7 | 0.9407 | 0.9407 | 0.9407 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9107524 | - | 8 | -0.9721 | -0.9721 | -0.9721 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9107644 | - | 8 | 0.9692 | 0.9691 | 0.9692 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106491 | - | 9 | -0.9954 | -0.9953 | -0.9954 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106605 | - | 9 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106236 | - | 10 | -0.9046 | -0.9046 | -0.9046 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106345 | - | 10 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9104239 | - | 11 | -0.9925 | -0.9925 | -0.9925 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9104400 | - | 11 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101447 | - | 12 | -0.9821 | -0.9820 | -0.9821 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101674 | - | 12 | 0.9722 | 0.9722 | 0.9722 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101144 | - | 13 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101207 | - | 13 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9099381 | - | 14 | -0.9921 | -0.9921 | -0.9921 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9099523 | - | 14 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9098607 | - | 15 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9098756 | - | 15 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9095539 | - | 16 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9095700 | - | 16 | 0.9996 | 0.9996 | 0.9996 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9094973 | - | 17 | -0.9877 | -0.9877 | -0.9877 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9095084 | - | 17 | 0.9930 | 0.9930 | 0.9930 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9093465 | - | 18 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9093579 | - | 18 | 0.9928 | 0.9928 | 0.9928 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9091201 | - | 19 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9091429 | - | 19 | 0.9903 | 0.9903 | 0.9903 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9090356 | - | 20 | -0.9634 | -0.9634 | -0.9634 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9090482 | - | 20 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089902 | - | 21 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9090023 | - | 21 | 0.9972 | 0.9971 | 0.9972 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089200 | - | 22 | -0.9668 | -0.9668 | -0.9668 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089251 | - | 22 | 0.9598 | 0.9598 | 0.9598 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9080094 | - | 23 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9080177 | - | 23 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079639 | - | 24 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079815 | - | 24 | 0.9962 | 0.9962 | 0.9962 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079244 | - | 25 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9079331 | - | 25 | 0.9945 | 0.9945 | 0.9945 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077701 | - | 26 | -0.8736 | -0.8736 | -0.8736 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077857 | - | 26 | 0.9148 | 0.9148 | 0.9148 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077346 | - | 27 | -0.9638 | -0.9638 | -0.9638 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9077420 | - | 27 | 0.9928 | 0.9928 | 0.9928 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9076756 | - | 28 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9076936 | - | 28 | 0.9905 | 0.9905 | 0.9905 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9074560 | - | 29 | -0.9704 | -0.9704 | -0.9704 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9074783 | - | 29 | 0.9902 | 0.9902 | 0.9902 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072653 | - | 30 | -0.9843 | -0.9843 | -0.9843 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072871 | - | 30 | 0.9741 | 0.9740 | 0.9741 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072359 | - | 31 | -0.9898 | -0.9898 | -0.9898 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9072486 | - | 31 | 0.9935 | 0.9935 | 0.9935 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9070488 | - | 32 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9070578 | - | 32 | 0.9946 | 0.9946 | 0.9946 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9069745 | - | 33 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9069813 | - | 33 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068740 | - | 34 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068842 | - | 34 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068183 | - | 35 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9068224 | - | 35 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9067839 | - | 36 | 0.8663 | 0.8663 | 0.8663 | 0.0000 | donor | a0001c0001t0002g0053 | HG01109.hp1 | HG01109.hp1 | A2M | chr12 | 9062708 | 9120919 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9090027:splice 9090027:variant goto | c.2597-4T>A | 3060838 | Benign | A2M:2 KLRG1:10219 |
SO:0001627 intron_variant |
. | - | 3 | 5 | 5 | 41 | a0001a0012a0016 | a0001c0001a0001c0003a0001c0021a0012c0014a0016c0013 | a0001c0001t0002a0001c0003t0002a0001c0021t0002a0012c0014t0002a0016c0013t0002 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0046a0001c0001t0002g0047others(36): Show | HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 others(45): Show |
LOW | chr12 | A | T | TogoVar |
| 9093580:splice 9093580:variant goto | c.2126-6_2126-2delCCATA | 402328 | Benign | A2M:2 KLRG1:10219 |
SO:0001574 splice_acceptor_variant |
MedGen:CN169374|MedGen:CN517202|. | - | 3 | 5 | 5 | 41 | a0001a0012a0016 | a0001c0001a0001c0003a0001c0021a0012c0014a0016c0013 | a0001c0001t0002a0001c0003t0002a0001c0021t0002a0012c0014t0002a0016c0013t0002 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0046a0001c0001t0002g0047others(36): Show | HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 others(45): Show |
HIGH | chr12 | CTATGG | C | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9086638
|
c.2770+2562G>A | Cortical thickness | a0001a0002a0009a0012a0013others(2): Show | a0001c0001a0001c0003a0001c0005a0001c0015a0001c0021others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002a0001c0015t0002a0001c0021t0002others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0046others(109): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 others(132): Show |
Vertex-wise multivariate genome-wide association s others(76): Show |
35,657 White British ancestry individuals/ | NR | A2M | rs226415-T | - | MODIFIER | chr12 | C | T |