| geneid | 2651 |
|---|---|
| ensemblid | ENSG00000111846.20 |
| hgncid | 4204 |
| symbol | GCNT2 |
| name | glucosaminyl (N-acetyl) transferase 2 (I blood group) |
| refseq_nuc | NM_145649.5 |
| refseq_prot | NP_663624.1 |
| ensembl_nuc | ENST00000495262.7 |
| ensembl_prot | ENSP00000419411.2 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 10521351 |
| end | 10629368 |
| strand | + |
| ver | v1.2 |
| region | chr6:10521351-10629368 |
| region5000 | chr6:10516351-10634368 |
| regionname0 | GCNT2_chr6_10521351_10629368 |
| regionname5000 | GCNT2_chr6_10516351_10634368 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:10528781
|
A | G | 0.0648 | 5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(18): Show | 21 | 324 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/5 | c.-131A>G | 131 | |||||
|
chr6:10528854
|
T | C | 0.0556 | 5_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(15): Show | 18 | 324 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/5 | c.-58T>C | 58 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:10523142
|
A | T | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-469+1725A>T | ||||||
|
chr6:10523431
|
GAA | G | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0222a0001c0001t0001g0224a0001c0001t0001g0225others(21): Show | 24 | 324 | 0.0741 | -2 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-469+2030_-469+2031delAA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10523500
|
G | C | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-469+2083G>C | ||||||
|
chr6:10523593
|
G | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(192): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(192): Show | 195 | 324 | 0.6019 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-469+2176G>C | ||||||
|
chr6:10523972
|
C | CAA | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01175.hp1 others(50): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(50): Show | 53 | 324 | 0.1636 | 2 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-469+2575_-469+2576dupAA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10525856
|
A | G | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(19): Show | 22 | 324 | 0.0679 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-468-1618A>G | ||||||
|
chr6:10525898
|
A | G | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(19): Show | 22 | 324 | 0.0679 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-468-1576A>G | ||||||
|
chr6:10526140
|
T | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(242): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011others(242): Show | 245 | 324 | 0.7562 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-468-1334T>A | ||||||
|
chr6:10526813
|
G | A | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-468-661G>A | ||||||
|
chr6:10527409
|
G | C | intron_variant | MODIFIER | HG02976.hp2 NA19043.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0027 | a0001c0001t0011g0001a0001c0001t0011g0002a0001c0001t0027g0003 | 3 | 324 | 0.0093 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/4 | c.-468-65G>C | ||||||
|
chr6:10527717
|
A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(15): Show | 18 | 324 | 0.0556 | 10 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 2/4 | c.-282+59_-282+60insTGTGTGTGTG | INFO_REALIGN_3_PRIME | |||||
|
chr6:10527985
|
T | C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(18): Show | 21 | 324 | 0.0648 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 2/4 | c.-282+325T>C | ||||||
|
chr6:10528023
|
A | G | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 2/4 | c.-282+363A>G | ||||||
|
chr6:10528201
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(165): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0133a0001c0001t0001g0135others(165): Show | 168 | 324 | 0.5185 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 2/4 | c.-281-430A>G | ||||||
|
chr6:10528561
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(194): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(194): Show | 197 | 324 | 0.6080 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 2/4 | c.-281-70T>C | ||||||
|
chr6:10530704
|
C | G | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(20): Show | 23 | 324 | 0.0710 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+868C>G | ||||||
|
chr6:10530954
|
T | C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(20): Show | 23 | 324 | 0.0710 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+1118T>C | ||||||
|
chr6:10531010
|
C | T | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(16): Show | 19 | 324 | 0.0586 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+1174C>T | ||||||
|
chr6:10531040
|
C | CAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(19): Show | 22 | 324 | 0.0679 | 4 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+1218_925+1221dupAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10531874
|
C | CT | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01074.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0034others(30): Show | 33 | 324 | 0.1019 | 1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+2058dupT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10531953
|
C | T | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(16): Show | 19 | 324 | 0.0586 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+2117C>T | ||||||
|
chr6:10532688
|
T | C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01175.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(20): Show | 23 | 324 | 0.0710 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+2852T>C | ||||||
|
chr6:10532914
|
CT | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(153): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0025a0001c0001t0001g0057a0001c0001t0001g0058others(153): Show | 156 | 324 | 0.4815 | -1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+3098delT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10533230
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(198): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(198): Show | 201 | 324 | 0.6204 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+3394T>C | ||||||
|
chr6:10533759
|
C | T | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(16): Show | 19 | 324 | 0.0586 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+3923C>T | ||||||
|
chr6:10534139
|
C | CTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG01433.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(12): Show | 15 | 324 | 0.0463 | 5 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+4304_925+4305insTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10534141
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(162): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0133others(162): Show | 165 | 324 | 0.5093 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+4305C>T | ||||||
|
chr6:10534270
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(162): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0133others(162): Show | 165 | 324 | 0.5093 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+4434C>T | ||||||
|
chr6:10534288
|
C | A | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(17): Show | 20 | 324 | 0.0617 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+4452C>A | ||||||
|
chr6:10534578
|
G | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(159): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0133others(159): Show | 162 | 324 | 0.5000 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+4742G>C | ||||||
|
chr6:10535009
|
C | T | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(16): Show | 19 | 324 | 0.0586 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+5173C>T | ||||||
|
chr6:10535288
|
G | A | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230others(16): Show | 19 | 324 | 0.0586 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+5452G>A | ||||||
|
chr6:10535358
|
A | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(208): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(208): Show | 211 | 324 | 0.6512 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+5522A>C | ||||||
|
chr6:10536706
|
C | CT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01074.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0062others(37): Show | 40 | 324 | 0.1235 | 1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+6885dupT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10537717
|
AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 324 | 0.0031 | -10 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+7886_925+7895delAAAAACAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10538134
|
G | A | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0085others(19): Show | 22 | 324 | 0.0679 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+8298G>A | ||||||
|
chr6:10538161
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(192): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0034others(192): Show | 195 | 324 | 0.6019 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+8325A>G | ||||||
|
chr6:10538433
|
A | T | intron_variant | MODIFIER | HG01496.hp1 HG02622.hp1 HG02896.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0068a0001c0001t0001g0132others(11): Show | 14 | 324 | 0.0432 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+8597A>T | ||||||
|
chr6:10538435
|
A | T | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01243.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(30): Show | 33 | 324 | 0.1019 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+8599A>T | ||||||
|
chr6:10538437
|
A | T | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01074.hp2 others(108): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(108): Show | 111 | 324 | 0.3426 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+8601A>T | ||||||
|
chr6:10538712
|
A | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(167): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0025a0001c0001t0001g0039a0001c0001t0001g0085others(167): Show | 170 | 324 | 0.5247 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+8876A>G | ||||||
|
chr6:10539056
|
T | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(188): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(188): Show | 191 | 324 | 0.5895 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+9220T>G | ||||||
|
chr6:10539180
|
CTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02451.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0034a0001c0001t0001g0068others(14): Show | 17 | 324 | 0.0525 | -2 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+9369_925+9370delTT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10539220
|
AC | A | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0034a0001c0001t0001g0068others(21): Show | 24 | 324 | 0.0741 | -1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+9387delC | INFO_REALIGN_3_PRIME | |||||
|
chr6:10539639
|
GGA | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(159): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(159): Show | 162 | 324 | 0.5000 | -2 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+9816_925+9817delGA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10540882
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(317): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(317): Show | 320 | 324 | 0.9877 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+11046G>A | ||||||
|
chr6:10544945
|
C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 HG03831.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0063a0001c0001t0001g0172a0001c0001t0001g0173others(5): Show | 8 | 324 | 0.0247 | 8 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+15138_925+15145dupAAATAAAT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10551396
|
G | C | intron_variant | MODIFIER | HG02976.hp1 NA19043.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0027 | a0001c0001t0003g0234a0001c0001t0011g0001a0001c0001t0027g0003 | 3 | 324 | 0.0093 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+21560G>C | ||||||
|
chr6:10553815
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(161): Show | 164 | 324 | 0.5062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+23979C>G | ||||||
|
chr6:10553832
|
C | T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02280.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0030a0001c0001t0001g0057others(18): Show | 21 | 324 | 0.0648 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+23996C>T | ||||||
|
chr6:10557856
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(161): Show | 164 | 324 | 0.5062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+28020C>G | ||||||
|
chr6:10558035
|
C | T | intron_variant | MODIFIER | HG02622.hp1 HG03540.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0004g0035others(2): Show | 5 | 324 | 0.0154 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+28199C>T | ||||||
|
chr6:10559718
|
G | A | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0216others(6): Show | 9 | 324 | 0.0278 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+29882G>A | ||||||
|
chr6:10559719
|
A | G | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0216others(6): Show | 9 | 324 | 0.0278 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+29883A>G | ||||||
|
chr6:10560869
|
T | C | intron_variant | MODIFIER | NA19043.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0027 | a0001c0001t0011g0001a0001c0001t0027g0003 | 2 | 324 | 0.0062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+31033T>C | ||||||
|
chr6:10561952
|
T | G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 324 | 0.0031 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+32116T>G | ||||||
|
chr6:10562496
|
T | G | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0068others(10): Show | 13 | 324 | 0.0401 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+32660T>G | ||||||
|
chr6:10563769
|
AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG03579.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0030a0001c0001t0011g0001 | 2 | 324 | 0.0062 | -14 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+33935_925+33948delAAAAAAAATATATA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10565708
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(164): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009others(164): Show | 167 | 324 | 0.5154 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+35872C>T | ||||||
|
chr6:10565845
|
T | C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01361.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0021others(28): Show | 31 | 324 | 0.0957 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+36009T>C | ||||||
|
chr6:10567387
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(210): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(210): Show | 213 | 324 | 0.6574 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+37551A>G | ||||||
|
chr6:10568151
|
C | T | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0006a0001c0001t0011g0001 | 2 | 324 | 0.0062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+38315C>T | ||||||
|
chr6:10568765
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(198): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(198): Show | 201 | 324 | 0.6204 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+38929T>C | ||||||
|
chr6:10569037
|
G | A | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0006a0001c0001t0011g0001 | 2 | 324 | 0.0062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+39201G>A | ||||||
|
chr6:10569887
|
TTCTTTCT others(3): Show |
T | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0006a0001c0001t0011g0001 | 2 | 324 | 0.0062 | -10 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+40052_925+40061delTCTTTCTTTC | ||||||
|
chr6:10570176
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(190): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(190): Show | 193 | 324 | 0.5957 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+40340T>C | ||||||
|
chr6:10571759
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(194): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(194): Show | 197 | 324 | 0.6080 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+41923G>A | ||||||
|
chr6:10572514
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(194): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(194): Show | 197 | 324 | 0.6080 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+42678T>C | ||||||
|
chr6:10572548
|
T | C | intron_variant | MODIFIER | HG01361.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0062a0001c0001t0001g0063others(10): Show | 13 | 324 | 0.0401 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+42712T>C | ||||||
|
chr6:10573350
|
A | ATTGTTG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(196): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(196): Show | 199 | 324 | 0.6142 | 6 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+43520_925+43525dupGTTGTT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10573531
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01099.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0029a0001c0001t0001g0030others(13): Show | 16 | 324 | 0.0494 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+43695C>A | ||||||
|
chr6:10573574
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0001t0001g0192others(7): Show | 10 | 324 | 0.0309 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+43738A>T | ||||||
|
chr6:10573677
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(180): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0014others(180): Show | 183 | 324 | 0.5648 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+43841A>G | ||||||
|
chr6:10574215
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(175): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0014others(175): Show | 178 | 324 | 0.5494 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+44379C>A | ||||||
|
chr6:10574673
|
T | C | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0006a0001c0001t0011g0001 | 2 | 324 | 0.0062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+44837T>C | ||||||
|
chr6:10574898
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(226): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(226): Show | 229 | 324 | 0.7068 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+45062T>C | ||||||
|
chr6:10575454
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(193): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(193): Show | 196 | 324 | 0.6049 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.925+45618T>C | ||||||
|
chr6:10575672
|
CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01099.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(51): Show | 54 | 324 | 0.1667 | -1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-45676delT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10576401
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0022others(23): Show | 26 | 324 | 0.0803 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-44950T>C | ||||||
|
chr6:10576645
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(191): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(191): Show | 194 | 324 | 0.5988 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-44706A>G | ||||||
|
chr6:10578391
|
TA | T | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0030others(25): Show | 28 | 324 | 0.0864 | -1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-42944delA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10578445
|
C | CTTTT | intron_variant | MODIFIER | HG01175.hp2 HG02622.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0075others(5): Show | 8 | 324 | 0.0247 | 4 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-42888_926-42885dupTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10578547
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(190): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(190): Show | 193 | 324 | 0.5957 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-42804T>C | ||||||
|
chr6:10578692
|
T | C | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0006a0001c0001t0011g0001 | 2 | 324 | 0.0062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-42659T>C | ||||||
|
chr6:10578726
|
G | A | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0006a0001c0001t0011g0001 | 2 | 324 | 0.0062 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-42625G>A | ||||||
|
chr6:10579730
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(318): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(318): Show | 321 | 324 | 0.9907 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-41621G>C | ||||||
|
chr6:10579827
|
A | AAAC | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0032a0001c0001t0001g0074others(18): Show | 21 | 324 | 0.0648 | 3 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-41522_926-41521insCAA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10579831
|
A | C | intron_variant | MODIFIER | HG01243.hp1 NA19030.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0081a0001c0001t0004g0035a0001c0001t0009g0006others(2): Show | 5 | 324 | 0.0154 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-41520A>C | ||||||
|
chr6:10579835
|
A | C | intron_variant | MODIFIER | HG02647.hp2 HG03579.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0030a0001c0001t0001g0321a0001c0001t0009g0006others(1): Show | 4 | 324 | 0.0124 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-41516A>C | ||||||
|
chr6:10579841
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(31): Show | 34 | 324 | 0.1049 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-41510A>C | ||||||
|
chr6:10580061
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01099.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(49): Show | 52 | 324 | 0.1605 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-41290C>T | ||||||
|
chr6:10580435
|
C | T | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01169.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0019others(45): Show | 48 | 324 | 0.1482 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-40916C>T | ||||||
|
chr6:10580677
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01099.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0019others(47): Show | 50 | 324 | 0.1543 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-40674T>G | ||||||
|
chr6:10580840
|
G | C | intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG02258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0063others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-40511G>C | ||||||
|
chr6:10580919
|
G | C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 324 | 0.0031 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-40432G>C | ||||||
|
chr6:10582125
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0030others(32): Show | 35 | 324 | 0.1080 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-39226A>T | ||||||
|
chr6:10582280
|
A | ATATAT | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01884.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0074others(21): Show | 24 | 324 | 0.0741 | 5 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-39070_926-39066dupTATAT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10582482
|
ATATAC | A | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01884.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0075others(19): Show | 22 | 324 | 0.0679 | -5 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-38864_926-38860delCTATA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10582536
|
T | TATATA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0030others(24): Show | 27 | 324 | 0.0833 | 5 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-38814_926-38810dupATATA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10582546
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(46): Show | 49 | 324 | 0.1512 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-38805G>A | ||||||
|
chr6:10582624
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(175): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(175): Show | 178 | 324 | 0.5494 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-38727T>A | ||||||
|
chr6:10582770
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0030others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-38581G>C | ||||||
|
chr6:10582804
|
AAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(44): Show | 47 | 324 | 0.1451 | -3 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-38532_926-38530delCAA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10583229
|
C | T | intron_variant | MODIFIER | HG01192.hp2 HG02622.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0215a0001c0001t0001g0221others(5): Show | 8 | 324 | 0.0247 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-38122C>T | ||||||
|
chr6:10583922
|
A | G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(18): Show | 21 | 324 | 0.0648 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-37429A>G | ||||||
|
chr6:10583960
|
G | C | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01884.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(26): Show | 29 | 324 | 0.0895 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-37391G>C | ||||||
|
chr6:10584084
|
T | C | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01884.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(26): Show | 29 | 324 | 0.0895 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-37267T>C | ||||||
|
chr6:10584232
|
A | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0039others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-37119A>C | ||||||
|
chr6:10584917
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(43): Show | 46 | 324 | 0.1420 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-36434C>T | ||||||
|
chr6:10584956
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(183): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0011others(183): Show | 186 | 324 | 0.5741 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-36395G>C | ||||||
|
chr6:10584977
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(35): Show | 38 | 324 | 0.1173 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-36374T>C | ||||||
|
chr6:10585028
|
AGTCAGTG others(11): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0226a0001c0001t0011g0001 | 2 | 324 | 0.0062 | -18 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-36320_926-36303delCAGTGTGTGTGTGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10585078
|
TGCGC | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0039others(15): Show | 18 | 324 | 0.0556 | -4 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-36270_926-36267delGCGC | INFO_REALIGN_3_PRIME | |||||
|
chr6:10585162
|
T | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(18): Show | 21 | 324 | 0.0648 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-36189T>A | ||||||
|
chr6:10585193
|
G | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(18): Show | 21 | 324 | 0.0648 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-36158G>T | ||||||
|
chr6:10585747
|
A | G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(18): Show | 21 | 324 | 0.0648 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-35604A>G | ||||||
|
chr6:10585773
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(48): Show | 51 | 324 | 0.1574 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-35578A>C | ||||||
|
chr6:10585880
|
G | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0039others(15): Show | 18 | 324 | 0.0556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-35471G>A | ||||||
|
chr6:10586805
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(312): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(312): Show | 315 | 324 | 0.9722 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-34546C>G | ||||||
|
chr6:10588713
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0131others(8): Show | 11 | 324 | 0.0340 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-32638A>G | ||||||
|
chr6:10588785
|
ATG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(156): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0013others(156): Show | 159 | 324 | 0.4907 | -2 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-32543_926-32542delTG | INFO_REALIGN_3_PRIME | |||||
|
chr6:10588890
|
C | CGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(176): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(176): Show | 179 | 324 | 0.5525 | 11 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-32457_926-32447dupTGTGTTGTGTG | INFO_REALIGN_3_PRIME | |||||
|
chr6:10589188
|
C | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(312): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(312): Show | 315 | 324 | 0.9722 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-32163C>G | ||||||
|
chr6:10590559
|
A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(152): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0016others(152): Show | 155 | 324 | 0.4784 | 1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-30779dupT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10591928
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(177): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(177): Show | 180 | 324 | 0.5556 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-29423A>G | ||||||
|
chr6:10593018
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0131a0001c0001t0001g0132others(5): Show | 8 | 324 | 0.0247 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-28333G>A | ||||||
|
chr6:10593230
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(174): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(174): Show | 177 | 324 | 0.5463 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-28121T>C | ||||||
|
chr6:10593383
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(179): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(179): Show | 182 | 324 | 0.5617 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-27968A>G | ||||||
|
chr6:10594940
|
GGCTCAA | G | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0131a0001c0001t0001g0132others(5): Show | 8 | 324 | 0.0247 | -6 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-26408_926-26403delTCAAGC | INFO_REALIGN_3_PRIME | |||||
|
chr6:10595558
|
T | TGA | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0019others(31): Show | 34 | 324 | 0.1049 | 2 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-25792_926-25791insAG | INFO_REALIGN_3_PRIME | |||||
|
chr6:10596555
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0222others(6): Show | 9 | 324 | 0.0278 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-24796G>A | ||||||
|
chr6:10597153
|
CT | C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01884.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0018others(25): Show | 28 | 324 | 0.0864 | -1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-24178delT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10597613
|
T | TTTG | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0073a0001c0001t0001g0074others(12): Show | 15 | 324 | 0.0463 | 3 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-23723_926-23721dupGTT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10598973
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(174): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(174): Show | 177 | 324 | 0.5463 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-22378G>C | ||||||
|
chr6:10599263
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(159): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0013others(159): Show | 162 | 324 | 0.5000 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-22088C>T | ||||||
|
chr6:10599301
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(159): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0013others(159): Show | 162 | 324 | 0.5000 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-22050G>A | ||||||
|
chr6:10600021
|
G | A | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01884.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0022others(16): Show | 19 | 324 | 0.0586 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-21330G>A | ||||||
|
chr6:10601433
|
G | C | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01109.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0018others(50): Show | 53 | 324 | 0.1636 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-19918G>C | ||||||
|
chr6:10601465
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0131a0001c0001t0001g0132others(9): Show | 12 | 324 | 0.0370 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-19886A>G | ||||||
|
chr6:10601680
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0131a0001c0001t0001g0132others(9): Show | 12 | 324 | 0.0370 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-19671G>A | ||||||
|
chr6:10601943
|
GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(203): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(203): Show | 206 | 324 | 0.6358 | -1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-19391delA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10602638
|
CAAATAGG others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0131a0001c0001t0001g0132others(9): Show | 12 | 324 | 0.0370 | -12 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-18708_926-18697delAGGGGTTAAAAT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10606603
|
C | CTTCCATT others(71): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00642.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0028others(51): Show | 54 | 324 | 0.1667 | 78 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-14676_926-14675insGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAAT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10609356
|
T | G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0131a0001c0001t0001g0132others(9): Show | 12 | 324 | 0.0370 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-11995T>G | ||||||
|
chr6:10610319
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0222others(6): Show | 9 | 324 | 0.0278 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-11032C>T | ||||||
|
chr6:10613224
|
C | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(78): Show | 81 | 324 | 0.2500 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-8127C>T | ||||||
|
chr6:10614625
|
C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01517.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0131a0001c0001t0001g0132others(10): Show | 13 | 324 | 0.0401 | 1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-6706dupA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10614845
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(246): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(246): Show | 249 | 324 | 0.7685 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-6506G>T | ||||||
|
chr6:10617750
|
C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0024others(17): Show | 20 | 324 | 0.0617 | 10 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | c.926-3588_926-3579dupTTTTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr6:10625518
|
TA | T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01099.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0045others(26): Show | 29 | 324 | 0.0895 | -1 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 4/4 | c.1019-885delA | INFO_REALIGN_3_PRIME | |||||
|
chr6:10626014
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0222others(5): Show | 8 | 324 | 0.0247 | 0 | GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 4/4 | c.1019-403C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 1/1 | a0001 | 402 | 323 | 86 | 59 | 132 | 8 | 36 | subcellular location copy fasta | chr6 | 10516351 | 10634368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 1/1 | c0001 | 1209 | 321 | 86 | 59 | 130 | 8 | 36 | copy fasta | chr6 | 10516351 | 10634368 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 0/0 | t0011 | 3230 | 2 | 2 | 0 | 0 | 0 | 0 | copy fasta | chr6 | 10516351 | 10634368 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 0/0 | g0001 | 1 | 1 | 0 | 0 | 0 | 0 | chr6 | 10516351 | 10634368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 1/1 | a0001c0001 | 321 | 86 | 59 | 130 | 8 | 36 | 1209 | copy fasta | chr6 | 10516351 | 10634368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 0/0 | a0001c0001t0011 | 2 | 2 | 0 | 0 | 0 | 0 | 4438 | copy fasta | chr6 | 10516351 | 10634368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 0/0 | a0001c0001t0011g0001 | 1 | 1 | 0 | 0 | 0 | 0 | chr6 | 10516351 | 10634368 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 10521417 | + | 1 | 0.0000 | 0.0000 | 0.0000 | 0.0000 | acceptor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10557342 | + | 1 | -0.7631 | -0.7631 | -0.7631 | 0.0000 | acceptor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10527474 | + | 2 | 0.0679 | 0.0679 | 0.0679 | 0.0000 | donor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10527660 | + | 2 | -0.1210 | -0.1210 | -0.1210 | 0.0000 | acceptor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10621351 | + | 2 | 0.9838 | 0.9838 | 0.9838 | 0.0000 | donor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10621443 | + | 2 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10528631 | + | 3 | 0.2739 | 0.2739 | 0.2739 | 0.0000 | donor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10529836 | + | 3 | -0.9397 | -0.9396 | -0.9397 | 0.0000 | acceptor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10626417 | + | 3 | 0.9415 | 0.9415 | 0.9415 | 0.0000 | donor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10621351 | + | 4 | 0.9838 | 0.9838 | 0.9838 | 0.0000 | donor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10621443 | + | 4 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10626417 | + | 5 | 0.9415 | 0.9415 | 0.9415 | 0.0000 | donor | a0001c0001t0011g0001 | NA19043.hp1 | NA19043.hp1 | GCNT2 | chr6 | 10516351 | 10634368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 10586805:splice 10586805:variant goto | c.926-34546C>G | 1174626 | Benign | GCNT2:2651 | SO:0001583 missense_variant,SO:0001627 intron_variant |
MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492 |
+ | 2 | 4 | 30 | 315 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(310): Show | HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 others(310): Show |
MODIFIER | chr6 | C | G | TogoVar |
| 10528561:splice 10528561:variant goto | c.-281-70T>C | 1286956 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 3 | 19 | 197 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(192): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 10585773:splice 10585773:variant goto | c.926-35578A>C | 1242272 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 13 | 51 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0019others(46): Show | HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 others(46): Show |
MODIFIER | chr6 | A | C | TogoVar |
| 10585747:splice 10585747:variant goto | c.926-35604A>G | 1244006 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 8 | 21 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0039others(16): Show | HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 others(16): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 10585880:splice 10585880:variant goto | c.926-35471G>A | 1238450 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 8 | 18 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0081a0001c0001t0001g0131others(13): Show | HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 others(13): Show |
MODIFIER | chr6 | G | A | TogoVar |
| 10528781:splice 10528781:variant goto | c.-131A>G | 1233305 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 1 | 7 | 21 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010a0001c0001t0011a0001c0001t0023others(2): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232a0001c0001t0003g0233others(16): Show | HG00642.hp2 HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 others(16): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 10528854:splice 10528854:variant goto | c.-58T>C | 1285722 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 1 | 6 | 18 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232a0001c0001t0003g0233others(13): Show | HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG02109.hp1 others(13): Show |
MODIFIER | chr6 | T | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:10613224
|
c.926-8127C>T | Perceived intensity of glucose0.3 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(76): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00673.hp2 others(76): Show |
New insight into human sweet taste: a genome-wide others(67): Show |
1,757 European ancestry twins/ | GCNT2 | GCNT2 | rs7764197-T | + | MODIFIER | chr6 | C | T |
|
chr6:10518117
|
c.-3769G>A | White blood cell count | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(194): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(194): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 444,000 European ancestry individual others(2): Show |
GCNT2 | rs504117-? | + | MODIFIER | chr6 | G | A | |
|
chr6:10533759
|
c.925+3923C>T | Serum urate levels0.0276 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010a0001c0001t0011a0001c0001t0023others(2): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232others(14): Show | HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG02109.hp1 others(14): Show |
A genome-wide association analysis reveals new pat others(25): Show |
630,117 European ancestry individuals/ | GCNT2 | rs12386520-T | + | MODIFIER | chr6 | C | T | |
|
chr6:10559718
|
c.925+29882G>A |
Protein quantitative trait loci (liver)0 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0011a0001c0001t0025others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0216a0001c0001t0003g0233a0001c0001t0003g0238others(4): Show | HG01496.hp1 HG02109.hp1 HG02622.hp1 HG03041.hp2 HG03540.hp2 others(4): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | GCNT2 | rs538918175-A | + | MODIFIER | chr6 | G | A |
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chr6:10526140
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c.-468-1334T>A |
Monocyte percentage of white cells0.0219 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,494 European ancestry individuals/ | GCNT2 | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10526140
|
c.-468-1334T>A | Monocyte count0.03104518 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,721 European ancestry individuals/ | GCNT2 | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10519657
|
c.-2229C>A | Monocyte count | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
234,690 European ancestry individuals/100,494 Euro others(25): Show |
GCNT2 | rs707794-C | + | MODIFIER | chr6 | C | A | |
|
chr6:10526140
|
c.-468-1334T>A | Monocyte count | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
639,696 African American or Afro-Caribbean, Africa others(116): Show |
NR | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10519657
|
c.-2229C>A | Monocyte count0.030445 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
521,594 European ancestry individuals/ | NR | GCNT2 | rs707794-A | + | MODIFIER | chr6 | C | A |
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chr6:10534578
|
c.925+4742G>C | Lymphocyte count0.012859 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137others(157): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(157): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
524,923 European ancestry individuals/ | NR | GCNT2 | rs6911448-C | + | MODIFIER | chr6 | G | C |
|
chr6:10526140
|
c.-468-1334T>A | Lymphocyte count | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
643,370 African American or Afro-Caribbean, Africa others(116): Show |
NR | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10518117
|
c.-3769G>A | White blood cell count0.014228 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(194): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(194): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
562,243 European ancestry individuals/ | NR | GCNT2 | rs504117-A | + | MODIFIER | chr6 | G | A |
|
chr6:10526140
|
c.-468-1334T>A | White blood cell count | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
746,667 African American or Afro-Caribbean, Africa others(116): Show |
NR | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10523142
|
c.-469+1725A>T | Serum urate levels0.0268 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232a0001c0001t0003g0233others(13): Show | HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG02109.hp1 others(13): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
219,768 East Asian ancestry individuals, 677,373 E others(50): Show |
GCNT2 | rs539664-A | + | MODIFIER | chr6 | A | T | |
|
chr6:10535358
|
c.925+5522A>C | monocyte (absolute count, maximum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
73,039 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10539056
|
c.925+9220T>G | monocyte (absolute count, minimum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(186): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(186): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
73,142 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs1226013-T | + | MODIFIER | chr6 | T | G | |
|
chr6:10535358
|
c.925+5522A>C | monocyte (absolute count, mean, inv-norm transformed)others(20): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
73,140 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10535358
|
c.925+5522A>C | monocyte (fraction, mean, inv-norm transformed)others(14): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
82,924 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10519657
|
c.-2229C>A | Monocyte count0.030983908 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GCNT2 | GCNT2 | rs707794-C | + | MODIFIER | chr6 | C | A |
|
chr6:10533230
|
c.925+3394T>C |
Monocyte percentage of white cells0.0221 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(196): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(196): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GCNT2 | GCNT2 | rs809479-C | + | MODIFIER | chr6 | T | C |
|
chr6:10535358
|
c.925+5522A>C | monocyte (absolute count, maximum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
259,269 European ancestry individuals/ | GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10519657
|
c.-2229C>A | Monocyte count0.0232 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
A cross-population atlas of genetic associations f others(24): Show |
349,856 European ancestry individuals, 95,119 East others(28): Show |
GCNT2 | rs707794-A | + | MODIFIER | chr6 | C | A | |
|
chr6:10539056
|
c.925+9220T>G | CD22/FCRL1 protein level ratio0.139862 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(186): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(186): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs111916869-? | + | MODIFIER | chr6 | T | G | |
|
chr6:10528201
|
