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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCKDK_chr16_31103386_31117791 | 31103589 | C | CTCTCCG | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02132.hp2 NA18960.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 5 | 171 | 0.0292 | 6 | c.-50 others(17): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4796 | chr16 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467473 | G | GGTGGTA | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01361.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0046 a0001c0001t0002g0090 a0001c0001t0002g0118 others(4): Show |
7 | 259 | 0.0270 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467492 | A | ATGGTAC | intron_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG02135.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0046 a0001c0001t0002g0090 a0001c0001t0002g0118 others(3): Show |
6 | 209 | 0.0287 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467533 | G | GGTGGTA | intron_variant | MODIFIER | HG00323.hp2 HG02300.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012 | a0001c0001t0003g0152 a0001c0001t0009g0203 a0001c0001t0009g0204 others(1): Show |
4 | 251 | 0.0159 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467555 | G | GTGGAGA | intron_variant | MODIFIER | HG00735.hp1 HG01952.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0002g0127 a0001c0001t0005g0221 a0001c0001t0020g0042 others(1): Show |
4 | 233 | 0.0172 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467587 | G | GATGGTA | intron_variant | MODIFIER | HG01168.hp1 HG01358.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0017 a0001c0002t0002g0119 a0001c0002t0003g0166 others(2): Show |
5 | 225 | 0.0222 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467600 | G | GTGTTGA | intron_variant | MODIFIER | HG01261.hp1 HG01934.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0021 a0001c0001t0002g0089 a0001c0001t0003g0170 others(5): Show |
8 | 238 | 0.0336 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467606 | G | GTAGTGA | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00642.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0043 others(32): Show |
37 | 241 | 0.1535 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467609 | G | GTGATGC | intron_variant | MODIFIER | HG00735.hp1 HG01952.hp1 HG03704.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0005g0221 others(2): Show |
5 | 259 | 0.0193 | 6 | c.487 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467827 | G | GGTGGTA | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01884.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0047 others(14): Show |
17 | 258 | 0.0659 | 6 | c.487 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467906 | A | ATGGTGG | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00642.hp2 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0058 others(44): Show |
49 | 229 | 0.2140 | 6 | c.487 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60521067 | G | GCACACA | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0003g0186 a0001c0001t0011g0187 a0001c0001t0012g0217 others(1): Show |
4 | 214 | 0.0187 | 6 | c.385 others(25): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60540946 | T | TTGTGTG | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00738.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0118 others(28): Show |
31 | 61 | 0.5082 | 6 | c.385 others(23): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAGAGG | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0023a0001c0001t0054others(3): Show | a0001c0001t0009g0194 a0001c0001t0009g0196 a0001c0001t0009g0197 others(9): Show |
12 | 71 | 0.1690 | 6 | c.-24 others(15): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99188537 | C | CCTGGGG | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00642.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0177 others(57): Show |
61 | 280 | 0.2179 | 6 | c.641 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199640 | C | CTCTGTG | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0006g0106 others(5): Show |
8 | 249 | 0.0321 | 6 | c.641 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99238989 | A | ACATATG | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG02056.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0039others(6): Show | a0001c0001t0001g0163 a0001c0001t0001g0198 a0001c0001t0001g0222 others(11): Show |
14 | 348 | 0.0402 | 6 | c.428 others(23): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99271314 | T | TGCCGCC | 5_prime_UTR_variant | MODIFIER | NA18966.hp2 NA18968.hp1 NA18969.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0053 | a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0147 others(5): Show |
8 | 340 | 0.0235 | 6 | c.-10 others(14): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 97 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99276108 | A | AAAGAAG | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0204 a0001c0001t0001g0234 a0001c0001t0001g0252 others(6): Show |
9 | 195 | 0.0462 | 6 | c.-48 others(17): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3912 | chr14 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52111173 | A | AACACAC | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01928.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0144 others(10): Show |
38 | 104 | 0.3654 | 6 | c.489 others(23): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
BCL2L11_chr2_111115914_111173444 | 111147327 | A | ATCTCTC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0018 others(32): Show |
51 | 314 | 0.1624 | 6 | c.395 others(23): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111147346 | T | TCTCTCA | intron_variant | MODIFIER | HG02056.hp2 HG02080.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0001g0180 a0001c0001t0002g0011 others(2): Show |
8 | 227 | 0.0352 | 6 | c.395 others(23): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111170699 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(5): Show |
8 | 71 | 0.1127 | 6 | c.*64 others(17): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2256 | chr2 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17646932 | C | CATATAT | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 others(4): Show |
7 | 297 | 0.0236 | 6 | c.-51 others(23): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATATT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01261.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0002g0117 a0001c0001t0002g0217 a0001c0001t0004g0102 others(12): Show |
15 | 95 | 0.1579 | 6 | c.-51 others(23): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATTTT | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01192.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(4): Show | a0001c0001t0002g0159 a0001c0001t0002g0165 a0001c0001t0002g0172 others(6): Show |
9 | 89 | 0.1011 | 6 | c.-51 others(23): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17657823 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(113): Show |
a0001 | a0001c0001a0001c0009a0001c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0002g0004 a0001c0001t0002g0100 a0001c0001t0002g0103 others(112): Show |
116 | 162 | 0.7160 | 6 | c.121 others(23): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17683844 | C | CATTATT | intron_variant | MODIFIER | HG02970.hp2 HG03486.hp1 NA18965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0012 | a0001c0001t0003g0030 a0001c0002t0001g0256 a0001c0002t0012g0008 |
3 | 65 | 0.0462 | 6 | c.229 others(21): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(45): Show |
a0001 | a0001c0001a0001c0009a0001c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0004 a0001c0001t0002g0117 a0001c0001t0002g0123 others(45): Show |
48 | 135 | 0.3556 | 6 | c.229 others(23): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17693372 | G | GGTTTTT | intron_variant | MODIFIER | HG01981.hp1 HG02135.hp2 HG02572.hp2 others(22): Show |
a0001a0008 | a0001c0001a0001c0007a0008c0011 | a0001c0001t0003a0001c0001t0009a0001c0001t0023others(3): Show | a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0031 others(21): Show |
25 | 92 | 0.2717 | 6 | c.387 others(23): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17722376 | G | GGTGCGT | intron_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG02132.hp2 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0003g0110 a0001c0001t0004g0148 a0001c0001t0004g0164 others(7): Show |
10 | 187 | 0.0535 | 6 | c.601 others(23): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L14_chr12_12065939_12104695 | 12102664 | G | GACACAC | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(68): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0003c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0027 others(60): Show |
71 | 114 | 0.6228 | 6 | c.*36 others(17): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 2970 | chr12 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31663137 | T | TATACAC | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01069.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0036 others(2): Show |
5 | 122 | 0.0410 | 6 | c.*28 others(17): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1320 | chr20 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31663161 | C | CACATAT | downstream_gene_variant | MODIFIER | HG03130.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0061 |
2 | 131 | 0.0153 | 6 | c.*27 others(17): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1296 | chr20 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31667484 | C | CGTGTGT | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 a0001c0001t0004g0042 |
2 | 42 | 0.0476 | 6 | c.565 others(23): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31709840 | C | CAAAAAA | intron_variant | MODIFIER | HG01071.hp2 HG01168.hp2 HG01358.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0162 others(6): Show |
9 | 72 | 0.1250 | 6 | c.564 others(25): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2L2_chr14_23301833_23316751 | 23303486 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0002g0001 others(8): Show |
123 | 182 | 0.6758 | 6 | c.-35 others(17): Show |
BCL2L2 | ENSG00000129473.11 | transcript | ENST00000250405.10 | protein_coding | 3346 | chr14 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63213526 | C | CCACACA | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0117 a0001c0001t0002g0023 a0001c0001t0003g0179 others(6): Show |
9 | 121 | 0.0744 | 6 | c.586 others(25): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63213547 | A | AACACAC | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0222 others(14): Show |
17 | 89 | 0.1910 | 6 | c.586 others(25): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63254383 | T | TAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(5): Show | a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0119 others(10): Show |
13 | 48 | 0.2708 | 6 | c.585 others(25): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63324508 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02886.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0162 a0001c0001t0002g0018 a0001c0001t0006g0005 others(6): Show |
9 | 59 | 0.1525 | 6 | c.-56 others(17): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 4740 | chr18 | TogoVar | |||||||
BCL6B_chr17_7018050_7034644 | 7024700 | C | CCAGCAG | disruptive_inframe_insertion | MODERATE | HG01257.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0003 | a0003c0005t0001g0001 a0003c0005t0003g0001 |
6 | 128 | 0.0469 | 6 | c.726 others(13): Show |
p.Ser others(13): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 4/9 | 794/3527 | 732/1440 | 244/479 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
BCL6B_chr17_7018050_7034644 | 7032158 | A | AACACAC | downstream_gene_variant | MODIFIER | HG02970.hp1 NA18960.hp2 NA19002.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0026 a0002c0003t0001g0004 |
4 | 59 | 0.0678 | 6 | c.*45 others(17): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 2515 | chr17 | TogoVar | |||||||
BCL6_chr3_187716381_187750468 | 187737347 | C | CAGAGAG | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02523.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0283 others(10): Show |
14 | 96 | 0.1458 | 6 | c.-49 others(23): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
BCL6_chr3_187716381_187750468 | 187737381 | G | GAGAGAA | intron_variant | MODIFIER | HG01358.hp2 HG03453.hp2 HG06807.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0028 a0002c0003t0001g0233 |
3 | 341 | 0.0088 | 6 | c.-49 others(23): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
BCL7A_chr12_122016884_122067044 | 122019142 | T | TTCTCTC | upstream_gene_variant | MODIFIER | HG02451.hp2 HG04184.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0072a0001c0002t0020 | a0001c0001t0020g0174 a0001c0001t0020g0184 a0001c0001t0072g0324 others(1): Show |
4 | 66 | 0.0606 | 6 | c.-29 others(17): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2741 | chr12 | TogoVar | |||||||
BCL7A_chr12_122016884_122067044 | 122021916 | T | TTGTGTG | 5_prime_UTR_variant | MODIFIER | HG01496.hp1 HG01928.hp1 NA19058.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0033 | a0001c0001t0033g0185 a0001c0002t0033g0176 a0001c0002t0033g0181 |
3 | 349 | 0.0086 | 6 | c.-16 others(15): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 1/6 | 162 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122021922 | G | GTGTGTA | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02040.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0077a0001c0001t0080others(6): Show | a0001c0001t0018g0323 a0001c0001t0077g0338 a0001c0001t0080g0094 others(11): Show |
14 | 358 | 0.0391 | 6 | c.-16 others(15): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 1/6 | 164 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7A_chr12_122016884_122067044 | 122021957 | T | TGTGTGA | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG02004.hp2 NA18990.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0032a0001c0002t0032a0001c0002t0099others(1): Show | a0001c0001t0032g0243 a0001c0002t0032g0203 a0001c0002t0099g0196 others(1): Show |
4 | 238 | 0.0168 | 6 | c.-13 others(15): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 1/6 | 133 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL7B_chr7_73531356_73562690 | 73561529 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(45): Show |
79 | 126 | 0.6270 | 6 | c.-39 others(17): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3840 | chr7 | TogoVar |