view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVEN_chr15_33861227_34044204 | 33983150 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 258 | 0.0039 | -10 | c.445 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34008483 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp1 HG01952.hp1 others(7): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0002a0008c0009t0002 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(7): Show |
10 | 75 | 0.1333 | -10 | c.268 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34014381 | AAAACAAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0176 |
2 | 254 | 0.0079 | -10 | c.268 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34029517 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01978.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0134 |
3 | 26 | 0.1154 | -10 | c.267 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503365 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 NA21309.hp2 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0118a0001c0009t0032 | a0001c0008t0118g0307 a0001c0009t0032g0309 a0001c0009t0032g0310 |
3 | 224 | 0.0134 | -10 | c.93+ others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503367 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 95 | 0.0105 | -10 | c.93+ others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0028a0001c0001t0029others(1): Show | a0001c0001t0016g0008 a0001c0001t0016g0010 a0001c0001t0028g0265 others(2): Show |
5 | 6 | 0.8333 | -10 | c.94- others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579495 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0021a0002c0005t0048a0002c0005t0051others(1): Show | a0002c0005t0021g0154 a0002c0005t0021g0319 a0002c0005t0048g0320 others(2): Show |
5 | 327 | 0.0153 | -10 | c.168 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579526 | ATATATTA others(3): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0111 | 1 | 327 | 0.0031 | -10 | c.168 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579559 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01261.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(1): Show | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0066 others(15): Show |
18 | 327 | 0.0550 | -10 | c.168 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32582267 | CTGAAAGA others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0102a0001c0001t0103a0001c0001t0104others(2): Show | a0001c0001t0102g0238 a0001c0001t0103g0240 a0001c0001t0104g0242 others(2): Show |
5 | 328 | 0.0152 | -10 | c.183 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03139.hp1 NA19002.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0002a0004c0005t0001 | a0001c0001t0001g0134 a0002c0002t0002g0064 a0004c0005t0001g0006 |
3 | 173 | 0.0173 | -10 | c.287 others(25): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97691684 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 234 | 0.0043 | -10 | c.-49 others(21): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 4444 | chr10 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01884.hp2 HG02647.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0074a0001c0003t0027others(1): Show | a0001c0001t0001g0001 a0001c0001t0074g0066 a0001c0003t0027g0032 others(1): Show |
4 | 114 | 0.0351 | -10 | c.-51 others(21): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179369269 | AGTTTCGC others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01109.hp2 others(2): Show |
a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 others(2): Show |
5 | 354 | 0.0141 | -10 | c.270 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179399474 | TCTAGACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(88): Show |
a0001a0002a0010others(3): Show | a0001c0002a0001c0006a0001c0007others(9): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(9): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(88): Show |
91 | 354 | 0.2571 | -10 | c.110 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179449988 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(167): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0006a0001c0021others(12): Show | a0001c0002t0001a0001c0006t0001a0001c0021t0001others(12): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(166): Show |
170 | 224 | 0.7589 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179459668 | TTTCTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0007a0001c0011others(9): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(9): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(103): Show |
106 | 354 | 0.2994 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179460008 | CTCTCCTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(93): Show |
a0001a0002a0011others(3): Show | a0001c0002a0001c0007a0001c0011others(6): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(6): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(93): Show |
96 | 354 | 0.2712 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179466276 | CTTCTTCT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03209.hp1 |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0001a0009c0013t0001 | a0003c0004t0001g0183 a0009c0013t0001g0097 a0009c0013t0001g0098 |
3 | 347 | 0.0086 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179482098 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01433.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0007a0002c0001a0004c0005others(1): Show | a0001c0007t0001a0002c0001t0001a0004c0005t0001others(1): Show | a0001c0007t0001g0182 a0001c0007t0001g0187 a0001c0007t0001g0189 others(18): Show |
21 | 34 | 0.6176 | -10 | c.199 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 336816 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 191 | 0.0052 | -10 | c.878 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 349104 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0184 | 1 | 254 | 0.0039 | -10 | c.-81 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 17 | 0.0588 | -10 | c.106 others(27): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65561694 | GCCCGCCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0030 | 1 | 400 | 0.0025 | -10 | c.-37 others(19): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 47 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65564088 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0236 | 1 | 110 | 0.0091 | -10 | c.-27 others(21): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41223164 | GGGCATCT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG03195.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0042a0001c0001t0043a0005c0009t0033 | a0001c0001t0042g0015 a0001c0001t0043g0015 a0005c0009t0033g0273 |
3 | 312 | 0.0096 | -10 | c.586 others(27): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41247895 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(68): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0001g0127 others(60): Show |
71 | 216 | 0.3287 | -10 | c.153 others(27): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02155.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0050 | a0001c0001t0039g0009 a0001c0001t0050g0252 |
2 | 49 | 0.0408 | -10 | c.*41 others(19): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 416 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZI2_chr3_28316047_28353824 | 28342711 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 others(25): Show |
73 | 146 | 0.5000 | -10 | c.-5- others(25): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102822170 | TCACACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0178 | 1 | 61 | 0.0164 | -10 | c.*63 others(21): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4137 | chr8 | TogoVar | |||||||
AZIN2_chr1_33076153_33128492 | 33102460 | GAAAGTCA others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 320 | 0.0031 | -10 | c.102 others(29): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
AZIN2_chr1_33076153_33128492 | 33125733 | CCCTTTCC others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0145 | 1 | 297 | 0.0034 | -10 | c.*55 others(21): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 2242 | chr1 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833302 | GAAGAAGA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 388 | 0.0026 | -10 | c.*14 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1285 | chr19 | TogoVar | |||||||
B2M_chr15_44706517_44723145 | 44721362 | GACACACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(4): Show |
31 | 72 | 0.4306 | -10 | c.*37 others(21): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3218 | chr15 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0185 a0001c0001t0011g0211 a0001c0001t0011g0212 others(2): Show |
5 | 251 | 0.0199 | -10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00738.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0127 a0001c0001t0002g0039 a0001c0001t0002g0040 others(32): Show |
35 | 45 | 0.7778 | -10 | c.556 others(25): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(59): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0035a0001c0001t0057others(14): Show | a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0035g0091 others(57): Show |
62 | 86 | 0.7209 | -10 | c.113 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167303644 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01169.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0042a0001c0001t0044others(2): Show | a0001c0001t0019g0020 a0001c0001t0042g0045 a0001c0001t0044g0019 others(2): Show |
5 | 44 | 0.1136 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167325702 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0062 others(61): Show |
64 | 93 | 0.6882 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167346767 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0060 | 1 | 116 | 0.0086 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167351955 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0068 others(39): Show |
42 | 73 | 0.5753 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167352270 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0025 | 1 | 116 | 0.0086 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167365585 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 55 | 0.0182 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167369061 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0094 a0001c0001t0011g0092 a0001c0001t0013g0091 others(1): Show |
4 | 8 | 0.5000 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167408015 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0069 others(6): Show |
9 | 13 | 0.6923 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167408063 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0060 | 1 | 116 | 0.0086 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512558 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03139.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0032others(1): Show | a0001c0001t0005g0051 a0001c0001t0005g0101 a0001c0001t0011g0092 others(2): Show |
5 | 114 | 0.0439 | -10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512568 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG03453.hp2 HG03579.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0028 | a0001c0001t0001g0007 a0001c0001t0002g0018 a0001c0001t0028g0072 |
3 | 82 | 0.0366 | -10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512614 | ATATATAC others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG02040.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(2): Show | a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0008g0080 others(3): Show |
6 | 116 | 0.0517 | -10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |