| 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 | 61322794 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02451.hp2 |
a0003 | a0003c0001 | a0003c0001t0001a0003c0001t0002 | a0003c0001t0001g0007a0003c0001t0002g0032 | 2 | 74 | 0.0270 | -8 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61322856 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03225.hp2 |
a0003a0004 | a0003c0001a0004c0009 | a0003c0001t0001a0004c0009t0001 | a0003c0001t0001g0026a0004c0009t0001g0055 | 2 | 74 | 0.0270 | -8 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61388959 | ATCATTCA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02451.hp1 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(6): Show | a0001c0002t0001g0056a0001c0002t0001g0063a0001c0004t0001g0034others(17): Show | 20 | 74 | 0.2703 | -8 | c.259 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61389264 | ACACAGGC others(1): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA20129.hp1 |
a0002a0003 | a0002c0006a0003c0001 | a0002c0006t0002a0003c0001t0002 | a0002c0006t0002g0030a0003c0001t0002g0022 | 2 | 74 | 0.0270 | -8 | c.259 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS4_chr20_50790061_50882177 | 50819811 | TGTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02886.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0003c0005t0002a0003c0005t0006 | a0001c0001t0003g0002a0003c0005t0002g0078a0003c0005t0002g0128others(3): Show | 6 | 270 | 0.0222 | -8 | c.162 others(25): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BCAS4_chr20_50790061_50882177 | 50876330 | CCGGCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01261.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0004t0003others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0073a0001c0001t0003g0163others(29): Show | 32 | 270 | 0.1185 | -8 | c.400 others(23): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | chr20 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24829019 | GTAAATAA others(1): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG02622.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0072a0001c0001t0073others(2): Show | a0001c0001t0008g0044a0001c0001t0008g0045a0001c0001t0008g0078others(7): Show | 10 | 322 | 0.0311 | -8 | c.111 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24835551 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0115a0001c0001t0002g0233a0001c0001t0003g0080others(5): Show | 8 | 322 | 0.0248 | -8 | c.903 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24836908 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01517.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0023others(11): Show | a0001c0001t0001g0019a0001c0001t0001g0130a0001c0001t0001g0165others(17): Show | 20 | 322 | 0.0621 | -8 | c.818 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24836953 | AGAAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0069others(4): Show | a0001c0001t0002g0233a0001c0001t0011g0039a0001c0001t0069g0178others(4): Show | 7 | 322 | 0.0217 | -8 | c.818 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24857478 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02572.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(10): Show | a0001c0001t0003g0052a0001c0001t0003g0292a0001c0001t0008g0046others(12): Show | 15 | 322 | 0.0466 | -8 | c.511 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24910378 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0027others(4): Show | a0001c0001t0002g0207a0001c0001t0021g0105a0001c0001t0021g0192others(6): Show | 9 | 322 | 0.0280 | -8 | c.7-8 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24910419 | AAATAAAT others(1): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0030a0001c0001t0071 | a0001c0001t0020g0087a0001c0001t0020g0294a0001c0001t0030g0295others(1): Show | 4 | 322 | 0.0124 | -8 | c.7-8 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24947167 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01168.hp1 HG01169.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(7): Show | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0094others(10): Show | 13 | 322 | 0.0404 | -8 | c.6+1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| BCAT2_chr19_48790064_48816029 | 48797794 | ATTTCTTT others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp2 HG01167.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0026others(7): Show | 16 | 408 | 0.0392 | -8 | c.696 others(23): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 6/10 | chr19 | TogoVar | ||||||
| BCHE_chr3_165767904_165842423 | 165840283 | TATAGATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01358.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0203others(14): Show | 18 | 304 | 0.0592 | -8 | c.-29 others(19): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2861 | chr3 | TogoVar | ||||||
| BCKDHB_chr6_80101671_80351270 | 80128872 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0087a0001c0001t0010g0088a0001c0001t0010g0137 | 3 | 294 | 0.0102 | -8 | c.275 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BCKDHB_chr6_80101671_80351270 | 80177225 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0025others(19): Show | 22 | 294 | 0.0748 | -8 | c.742 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BCKDHB_chr6_80101671_80351270 | 80342576 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02895.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0001c0001t0021a0003c0004t0010 | a0001c0001t0010g0080a0001c0001t0010g0087a0001c0001t0010g0088others(3): Show | 6 | 294 | 0.0204 | -8 | c.103 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | chr6 | TogoVar | ||||||
| BCL10_chr1_85260776_85281632 | 85277288 | ATTATTTA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0064a0001c0001t0001g0065 | 9 | 446 | 0.0202 | -8 | c.-94 others(17): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 657 | chr1 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60466186 | GACTTTCC others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(11): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0036a0001c0001t0002g0128a0001c0001t0004g0078others(11): Show | 14 | 262 | 0.0534 | -8 | c.487 others(25): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60488812 | TGCAATGG others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0049a0001c0001t0061 | a0001c0001t0038g0069a0001c0001t0049g0165a0001c0001t0061g0212 | 3 | 262 | 0.0115 | -8 | c.386 others(27): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60519539 | TTGCCTGC others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0063 | a0001c0001t0019g0012a0001c0001t0063g0234 | 2 | 262 | 0.0076 | -8 | c.385 others(27): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60538733 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0003g0187a0001c0001t0004g0074a0001c0001t0011g0188others(1): Show | 4 | 262 | 0.0153 | -8 | c.385 others(25): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60538737 | CTCTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01243.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0033a0001c0001t0002g0127a0001c0001t0008g0116others(8): Show | 11 | 262 | 0.0420 | -8 | c.385 others(25): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99192939 | TAGTGAAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(108): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0172others(108): Show | 111 | 350 | 0.3171 | -8 | c.641 others(27): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99199640 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0056 | a0001c0001t0013g0329a0001c0001t0013g0331a0001c0001t0056g0136 | 3 | 350 | 0.0086 | -8 | c.641 others(27): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99229119 | AATGGATG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00609.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0219a0001c0001t0001g0228a0001c0001t0001g0240others(19): Show | 22 | 350 | 0.0629 | -8 | c.640 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99271290 | CCGCCGCC others(1): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18948.hp2 NA19058.hp1 NA19088.hp2 |
a0001 | a0001c0002 | a0001c0002t0021a0001c0002t0057 | a0001c0002t0021g0139a0001c0002t0021g0140a0001c0002t0057g0141 | 3 | 350 | 0.0086 | -8 | c.-80 others(15): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 73 | chr14 | TogoVar | |||||
| BCL11B_chr14_99164287_99277197 | 99275474 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0167a0001c0001t0002g0027a0001c0001t0002g0056others(42): Show | 45 | 350 | 0.1286 | -8 | c.-42 others(19): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3278 | chr14 | TogoVar | ||||||
| BCL2A1_chr15_79955892_79976196 | 79966817 | AGCAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0118a0002c0002t0001g0002a0002c0002t0001g0004others(22): Show | 95 | 436 | 0.2179 | -8 | c.420 others(25): Show |
BCL2A1 | ENSG00000140379.9 | transcript | ENST00000267953.4 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
| BCL2L10_chr15_52104263_52117775 | 52111173 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01192.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0009 | a0002c0002t0001g0021a0002c0002t0001g0058a0002c0002t0005g0053others(2): Show | 11 | 458 | 0.0240 | -8 | c.489 others(25): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
| BCL2L11_chr2_111115914_111173444 | 111147346 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02273.hp2 HG02818.hp1 NA18983.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0019others(1): Show | a0001c0001t0004g0017a0001c0001t0004g0071a0001c0001t0004g0325others(3): Show | 6 | 398 | 0.0151 | -8 | c.395 others(25): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17646953 | ATATTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02922.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0007a0007c0013 | a0001c0001t0003a0001c0007t0044a0007c0013t0003 | a0001c0001t0003g0024a0001c0001t0003g0027a0001c0001t0003g0029others(7): Show | 10 | 306 | 0.0327 | -8 | c.-51 others(25): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17656335 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00741.hp2 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0059 | a0002c0003t0001g0220a0002c0003t0001g0221a0002c0003t0001g0262others(11): Show | 14 | 306 | 0.0458 | -8 | 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 | 17677154 | CAAAAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0047 | a0001c0001t0002g0116a0001c0001t0002g0138a0001c0001t0002g0188others(1): Show | 4 | 306 | 0.0131 | -8 | c.122 others(25): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17722376 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0065a0001c0002t0012others(1): Show | a0001c0001t0005g0242a0001c0001t0065g0103a0001c0002t0012g0003others(4): Show | 7 | 306 | 0.0229 | -8 | c.601 others(25): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L14_chr12_12065939_12104695 | 12075410 | ATTCTTTC others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01074.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0048a0001c0001t0001g0194a0001c0001t0001g0308others(19): Show | 27 | 454 | 0.0595 | -8 | c.-7- others(23): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BCL2L14_chr12_12065939_12104695 | 12075429 | CTTTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG01993.hp2 HG02004.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0188a0001c0002t0001g0166a0001c0002t0002g0024others(4): Show | 8 | 454 | 0.0176 | -8 | c.-7- others(23): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BCL2L1_chr20_31659458_31727868 | 31683769 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0153a0001c0001t0003g0177a0001c0001t0003g0178others(3): Show | 6 | 186 | 0.0323 | -8 | c.565 others(27): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| BCL2L1_chr20_31659458_31727868 | 31691152 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG01884.hp1 HG02109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(16): Show | 19 | 186 | 0.1022 | -8 | c.565 others(27): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| BCL2L1_chr20_31659458_31727868 | 31727014 | AAGAATCC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(83): Show | 90 | 186 | 0.4839 | -8 | c.-45 others(19): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 4147 | chr20 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63149844 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01515.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0055a0001c0002t0009 | a0001c0001t0001g0110a0001c0001t0001g0168a0001c0001t0055g0252others(2): Show | 5 | 264 | 0.0189 | -8 | c.586 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63169303 | TCTTTCTT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0042a0001c0002t0015 | a0001c0001t0004g0191a0001c0001t0042g0124a0001c0002t0015g0061others(1): Show | 4 | 264 | 0.0152 | -8 | c.586 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63198319 | CAGACACA others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0197a0001c0002t0002g0049a0001c0002t0002g0050 | 3 | 264 | 0.0114 | -8 | c.586 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63261385 | ACGATGCT others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00642.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0168a0001c0001t0001g0182a0001c0001t0002g0029others(19): Show | 22 | 264 | 0.0833 | -8 | c.585 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63263567 | ATCTGTTT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111a0001c0001t0001g0113a0001c0001t0002g0017others(2): Show | 5 | 264 | 0.0189 | -8 | c.585 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63281666 | CAGAAAGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00642.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0104a0001c0001t0001g0129a0001c0001t0001g0159others(43): Show | 46 | 264 | 0.1742 | -8 | c.585 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63320707 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0162a0001c0001t0002g0003a0001c0001t0002g0004others(40): Show | 43 | 264 | 0.1629 | -8 | c.-18 others(19): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 939 | chr18 | TogoVar | ||||||
| BCL3_chr19_44743708_44765044 | 44752078 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG02109.hp1 HG02451.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0073a0001c0001t0003g0012a0001c0001t0003g0027others(8): Show | 15 | 344 | 0.0436 | -8 | c.410 others(23): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |