regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN10_chr22_45666834_45850307 | 45827129 | CCACACAC others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0303 | 2 | 316 | 0.0063 | -24 | c.123 others(45): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45843541 | ATTGTTTT others(17): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 316 | 0.0032 | -24 | c.142 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45848075 | GTGCATTC others(17): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 316 | 0.0032 | -24 | c.*44 others(35): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 2769 | chr22 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111448011 | CTCCCTTC others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 | 1 | 298 | 0.0034 | -24 | c.*47 others(35): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4202 | chr12 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619516 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00558.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0152a0001c0001t0011g0157 | 2 | 252 | 0.0079 | -24 | c.151 others(41): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105662019 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0055 | a0001c0001t0021g0130a0001c0001t0055g0252 | 2 | 252 | 0.0079 | -24 | c.578 others(41): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105662023 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 252 | 0.0040 | -24 | c.578 others(41): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAAAAAA others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0192 | 1 | 252 | 0.0040 | -24 | c.356 others(43): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74533864 | ATAAAAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0000 | 1 | 408 | 0.0025 | -24 | c.-42 others(35): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 3970 | chr12 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63911164 | AATCACTG others(17): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0035 | 1 | 300 | 0.0033 | -24 | c.-11 others(41): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AUP1_chr2_74521652_74534706 | 74521744 | CCTCTCCC others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0015 | 17 | 388 | 0.0438 | -24 | c.*50 others(35): Show |
AUP1 | ENSG00000115307.17 | transcript | ENST00000377526.4 | protein_coding | 4907 | chr2 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69602040 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(5): Show | a0001c0001t0005g0012a0001c0001t0005g0015a0001c0001t0005g0020others(9): Show | 12 | 76 | 0.1579 | -24 | c.309 others(41): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02622.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0058a0001c0001t0003g0061a0001c0001t0004g0054others(1): Show | 4 | 76 | 0.0526 | -24 | c.310 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70043547 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | NA20752.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0001a0001c0001t0016g0002 | 2 | 76 | 0.0263 | -24 | c.523 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70491437 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 76 | 0.0132 | -24 | c.690 others(43): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVEN_chr15_33861227_34044204 | 33931349 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0040a0001c0001t0001g0055others(53): Show | 56 | 266 | 0.2105 | -24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933518 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0217 | 1 | 266 | 0.0038 | -24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933520 | CACACAGA others(17): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0031a0001c0001t0001g0096a0001c0001t0001g0099others(2): Show | 5 | 266 | 0.0188 | -24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933522 | CACAGAGA others(17): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 266 | 0.0038 | -24 | c.446 others(43): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01123.hp2 others(33): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0009others(1): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0011others(19): Show | a0001c0002t0005g0062a0001c0002t0005g0064a0001c0002t0005g0065others(33): Show | 36 | 330 | 0.1091 | -24 | c.94- others(39): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579533 | ATATTATA others(17): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0101 | 1 | 330 | 0.0030 | -24 | c.168 others(41): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(17): Show |
G | intron_variant | MODIFIER | HG01106.hp1 NA19009.hp2 NA19056.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0295a0002c0002t0002g0054a0002c0002t0002g0111 | 3 | 446 | 0.0067 | -24 | c.287 others(39): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138005 | TCCTCCCT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0032 | a0002c0003t0032g0063 | 1 | 448 | 0.0022 | -24 | c.*93 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4753 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138047 | CTCCCTCC others(17): Show |
C | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 448 | 0.0022 | -24 | c.*92 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4711 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138051 | CTCCCTCC others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 448 | 0.0022 | -24 | c.*92 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4707 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | CTCCTTCC others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009a0001c0001t0005g0052 | 4 | 448 | 0.0089 | -24 | c.*92 others(35): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179421035 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02040.hp2 others(13): Show |
a0001a0002a0023 | a0001c0002a0001c0006a0001c0007others(2): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(2): Show | a0001c0002t0001g0151a0001c0006t0001g0103a0001c0006t0001g0162others(13): Show | 16 | 356 | 0.0449 | -24 | c.123 others(43): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41235369 | AATAGATA others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(64): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0132a0001c0001t0002g0003others(58): Show | 67 | 314 | 0.2134 | -24 | c.784 others(41): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZU1_chr19_822837_837018 | 833299 | GAAGAAGA others(17): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 | 1 | 391 | 0.0026 | -24 | c.*14 others(35): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1282 | chr19 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161104876 | CGCAAGGC others(17): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 400 | 0.0025 | -24 | c.-30 others(41): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG03540.hp1 NA18906.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0049 | a0001c0001t0025g0103a0001c0001t0025g0104a0001c0001t0049g0188 | 3 | 344 | 0.0087 | -24 | c.652 others(41): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 344 | 0.0029 | -24 | c.556 others(39): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167331799 | CAGCTGTG others(17): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(2): Show | 5 | 118 | 0.0424 | -24 | c.-51 others(45): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167588822 | CTTCCTTC others(17): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0060 | 1 | 118 | 0.0085 | -24 | c.-40 others(45): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167799950 | GTATGTAT others(17): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01081.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007a0001c0001t0002g0001a0001c0001t0002g0010others(30): Show | 33 | 118 | 0.2797 | -24 | c.-35 others(45): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39613659 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0020 | 1 | 336 | 0.0030 | -24 | c.-39 others(41): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39623201 | TCCTCCCT others(17): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp2 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0001c0001t0056others(6): Show | a0001c0001t0002g0300a0001c0001t0012g0129a0001c0001t0056g0316others(6): Show | 9 | 336 | 0.0268 | -24 | c.-39 others(45): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134403979 | TTCTTTAT others(17): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0001a0001c0001t0004g0260a0001c0001t0004g0261others(2): Show | 7 | 352 | 0.0199 | -24 | c.-28 others(43): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77032662 | TATATATA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0059 | 1 | 442 | 0.0023 | -24 | c.-18 others(35): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1735 | chr11 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82970514 | TCCTCCCC others(17): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0198 | 1 | 266 | 0.0038 | -24 | c.460 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82970526 | AGCGTGGC others(17): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02572.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0004a0001c0003t0005a0001c0006t0011others(1): Show | a0001c0001t0004g0253a0001c0003t0005g0225a0001c0006t0011g0027others(1): Show | 4 | 266 | 0.0150 | -24 | c.460 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82970624 | CGTGGCCG others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00735.hp2 others(18): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0008others(3): Show | a0001c0004t0010a0001c0007t0001a0001c0007t0005others(8): Show | a0001c0004t0010g0034a0001c0007t0001g0003a0001c0007t0001g0149others(17): Show | 21 | 266 | 0.0790 | -24 | c.460 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83025605 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0036a0001c0004t0001a0001c0004t0002others(15): Show | a0001c0001t0036g0244a0001c0004t0001g0002a0001c0004t0001g0021others(34): Show | 38 | 266 | 0.1429 | -24 | c.297 others(41): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 456435 | CAGATATA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(130): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(130): Show | 133 | 394 | 0.3376 | -24 | c.-39 others(35): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511465 | TCCACCTT others(17): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0013a0001c0016others(6): Show | a0001c0002t0013a0001c0013t0002a0001c0016t0088others(7): Show | a0001c0002t0013g0175a0001c0013t0002g0177a0001c0016t0088g0229others(9): Show | 12 | 394 | 0.0305 | -24 | c.170 others(43): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512176 | TCCGCCTT others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(22): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0044others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(19): Show | a0001c0001t0001g0116a0001c0001t0001g0223a0001c0001t0006g0065others(22): Show | 25 | 394 | 0.0635 | -24 | c.170 others(43): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 377086 | CCGGGCGA others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG03490.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0108 | 1 | 184 | 0.0054 | -24 | c.196 others(33): Show |
p.Pro others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 14/20 | 2269/3750 | 1964/3120 | 655/1039 | chr11 | TogoVar | ||
B4GALT3_chr1_161166310_161182507 | 161179281 | TTTCCTTC others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(107): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0031a0001c0001t0002g0002a0001c0001t0002g0007others(14): Show | 110 | 374 | 0.2941 | -24 | c.-20 others(35): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 1775 | chr1 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49664421 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0127 | 1 | 364 | 0.0028 | -24 | c.116 others(41): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112147 | TTACCTCC others(17): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 158 | 0.0063 | -24 | c.571 others(43): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |