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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAS3_chr17_60672851_61397831 | 60888837 | ATTTTC | A | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02451.hp2 others(8): Show |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0002a0003c0001t0001a0003c0001t0002 | a0001c0004t0002g0050a0001c0004t0002g0072a0003c0001t0001g0005others(8): Show | 11 | 74 | 0.1487 | -5 | c.662 others(20): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61003372 | GCCCTC | G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG01952.hp2 others(11): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(4): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0002g0053others(11): Show | 14 | 74 | 0.1892 | -5 | c.148 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61019474 | GAATAT | G | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 NA20129.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0043a0001c0004t0001g0047a0001c0004t0001g0049 | 3 | 74 | 0.0405 | -5 | c.163 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61083349 | GTATTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01891.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(11): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(39): Show | 42 | 74 | 0.5676 | -5 | c.232 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61166387 | CTCTCT | C | intron_variant | MODIFIER | HG02559.hp1 HG03041.hp1 HG03041.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0003a0002c0005others(1): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(2): Show | a0001c0004t0001g0045a0001c0004t0002g0044a0001c0004t0002g0072others(4): Show | 7 | 74 | 0.0946 | -5 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61191780 | AAAAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02818.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0067a0001c0002t0002g0068a0001c0002t0002g0069others(6): Show | 9 | 74 | 0.1216 | -5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61193757 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0005a0002c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(4): Show | a0001c0002t0001g0056a0001c0002t0002g0054a0001c0002t0002g0057others(13): Show | 16 | 74 | 0.2162 | -5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61216516 | GTTTAT | G | intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG03225.hp1 |
a0001a0002 | a0001c0002a0001c0004a0002c0005 | a0001c0002t0002a0001c0004t0001a0002c0005t0001 | a0001c0002t0002g0053a0001c0004t0001g0058a0002c0005t0001g0073 | 3 | 74 | 0.0405 | -5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796478 | TATATA | T | intron_variant | MODIFIER | HG02083.hp2 NA18968.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0245a0001c0001t0002g0244a0001c0001t0003g0243 | 3 | 270 | 0.0111 | -5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50798407 | CTTACG | C | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp2 HG02145.hp1 others(11): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0003t0001a0001c0004t0001others(6): Show | a0001c0001t0002g0017a0001c0003t0001g0004a0001c0003t0001g0005others(11): Show | 14 | 270 | 0.0519 | -5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50820054 | GCTGGT | G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0075a0001c0001t0001g0173a0001c0001t0001g0175others(75): Show | 78 | 270 | 0.2889 | -5 | c.162 others(22): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24808435 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(117): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(117): Show | 120 | 322 | 0.3727 | -5 | c.*95 others(16): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1588 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24829776 | AAAAAG | A | intron_variant | MODIFIER | HG00621.hp1 HG02071.hp2 HG02129.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0125 | a0001c0001t0001g0019a0001c0001t0001g0130a0001c0001t0001g0165others(2): Show | 5 | 322 | 0.0155 | -5 | c.111 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24843199 | CTACAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(136): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(318): Show | 321 | 322 | 0.9969 | -5 | c.675 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24917195 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0167a0001c0001t0002g0004a0001c0001t0002g0005others(10): Show | 13 | 322 | 0.0404 | -5 | c.7-1 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24933109 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(52): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(52): Show | 55 | 322 | 0.1708 | -5 | c.6+1 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48800976 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(176): Show | 289 | 408 | 0.7083 | -5 | c.301 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3/10 | chr19 | TogoVar | ||||||
BCCIP_chr10_125818546_125841551 | 125833561 | TATATC | T | intron_variant | MODIFIER | NA18998.hp1 NA19010.hp1 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0171 | 4 | 446 | 0.0090 | -5 | c.600 others(20): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BCHE_chr3_165767904_165842423 | 165788114 | GTTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(243): Show | 300 | 304 | 0.9868 | -5 | c.151 others(24): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797306 | CCCCTT | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01074.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0009 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0127others(19): Show | 25 | 304 | 0.0822 | -5 | c.151 others(26): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165834213 | CACTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(155): Show | 201 | 304 | 0.6612 | -5 | c.-9+ others(20): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165841083 | AGCTTC | A | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01517.hp2 others(8): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0004a0004c0004t0004 | a0002c0002t0004g0002a0002c0002t0004g0003a0002c0002t0004g0033others(2): Show | 11 | 304 | 0.0362 | -5 | c.-37 others(16): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 3661 | chr3 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41396617 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0028others(9): Show | 13 | 374 | 0.0348 | -5 | c.-12 others(16): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1200 | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41399716 | CCCTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0002a0001c0008a0001c0014 | a0001c0002t0001a0001c0008t0001a0001c0014t0001 | a0001c0002t0001g0099a0001c0008t0001g0038a0001c0008t0001g0261others(4): Show | 8 | 374 | 0.0214 | -5 | c.108 others(22): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80161275 | TTTAGG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0004g0141others(50): Show | 53 | 294 | 0.1803 | -5 | c.344 others(22): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80236168 | CCTCTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(162): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(162): Show | 165 | 294 | 0.5612 | -5 | c.951 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80318700 | AAAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024a0001c0001t0031 | a0001c0001t0003g0093a0001c0001t0003g0114a0001c0001t0003g0115others(18): Show | 21 | 294 | 0.0714 | -5 | c.103 others(26): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80326191 | CAAAAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(90): Show | 93 | 294 | 0.3163 | -5 | c.103 others(26): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCL10_chr1_85260776_85281632 | 85268054 | TGTTAA | T | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017 | a0001c0001t0008g0009a0001c0001t0017g0032 | 11 | 446 | 0.0247 | -5 | c.347 others(18): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507241 | AGGGAG | A | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01978.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0019a0001c0001t0001g0032a0001c0001t0001g0054others(19): Show | 22 | 262 | 0.0840 | -5 | c.386 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60521100 | CTCACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0025a0001c0001t0001g0033a0001c0001t0001g0035others(115): Show | 118 | 262 | 0.4504 | -5 | c.385 others(24): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60537176 | TTAACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(131): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0034others(129): Show | 134 | 262 | 0.5115 | -5 | c.385 others(22): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99229360 | GGCAGA | G | intron_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0001t0071a0001c0002t0049others(1): Show | a0001c0001t0027g0230a0001c0001t0071g0187a0001c0002t0049g0057others(1): Show | 4 | 350 | 0.0114 | -5 | c.640 others(22): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99243918 | TAAAAA | T | intron_variant | MODIFIER | HG00621.hp1 HG02055.hp2 HG02056.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0040others(3): Show | a0001c0001t0001g0199a0001c0001t0017g0304a0001c0001t0040g0134others(3): Show | 6 | 350 | 0.0171 | -5 | c.428 others(24): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99255405 | GAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG02109.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0188a0001c0001t0002g0025a0001c0001t0002g0026others(8): Show | 11 | 350 | 0.0314 | -5 | c.427 others(22): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99269875 | TAAAAA | T | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0172a0001c0001t0002g0039a0001c0001t0002g0040others(13): Show | 16 | 350 | 0.0457 | -5 | c.58+ others(20): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111145920 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00609.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0019others(18): Show | a0001c0001t0005g0003a0001c0001t0005g0028a0001c0001t0005g0029others(50): Show | 61 | 398 | 0.1533 | -5 | c.395 others(22): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17646951 | ATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01168.hp2 others(18): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0003a0001c0001t0009a0001c0001t0023others(2): Show | a0001c0001t0003g0021a0001c0001t0003g0039a0001c0001t0003g0041others(18): Show | 21 | 306 | 0.0686 | -5 | c.-51 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17646955 | ATTTTT | A | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01361.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0007a0001c0002t0006a0001c0002t0025others(5): Show | a0001c0001t0007g0017a0001c0002t0006g0067a0001c0002t0025g0074others(10): Show | 13 | 306 | 0.0425 | -5 | c.-51 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17657368 | TACTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(132): Show |
a0001 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0002g0099a0001c0001t0002g0100a0001c0001t0002g0111others(132): Show | 135 | 306 | 0.4412 | -5 | c.121 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17659660 | AAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01168.hp2 others(48): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0023others(8): Show | a0001c0001t0003g0002a0001c0001t0003g0021a0001c0001t0003g0022others(48): Show | 51 | 306 | 0.1667 | -5 | c.121 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17693365 | AGTGTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01261.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0006a0001c0002t0014others(2): Show | a0001c0001t0006g0070a0001c0002t0006g0066a0001c0002t0006g0067others(13): Show | 16 | 306 | 0.0523 | -5 | c.387 others(22): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
BCL2L14_chr12_12065939_12104695 | 12074980 | CACTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(349): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0018others(291): Show | 352 | 454 | 0.7753 | -5 | c.-8+ others(20): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL2L1_chr20_31659458_31727868 | 31691520 | AAAAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(60): Show | 67 | 186 | 0.3602 | -5 | c.565 others(24): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31706403 | AGCTTT | A | intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172 | 2 | 186 | 0.0108 | -5 | c.564 others(24): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31727017 | AATCCC | A | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01243.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0051a0001c0001t0001g0053 | 3 | 186 | 0.0161 | -5 | c.-45 others(16): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 4150 | chr20 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63163355 | CTAATA | C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00642.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(8): Show | a0001c0001t0001g0129a0001c0001t0004g0145a0001c0001t0004g0191others(10): Show | 13 | 264 | 0.0492 | -5 | c.586 others(24): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169333 | CTTCCT | C | intron_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0049 | a0001c0001t0001g0159a0001c0001t0001g0210a0001c0001t0049g0173 | 3 | 264 | 0.0114 | -5 | c.586 others(24): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44750354 | ATTGGC | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01109.hp1 others(49): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0030others(38): Show | 52 | 344 | 0.1512 | -5 | c.257 others(20): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
BCL6_chr3_187716381_187750468 | 187732630 | AGCTAT | A | intron_variant | MODIFIER | HG03490.hp1 HG03942.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103a0001c0001t0002g0242a0001c0001t0002g0294 | 3 | 404 | 0.0074 | -5 | c.162 others(20): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3/9 | chr3 | TogoVar |