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 | 61375218 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01256.hp2 HG02083.hp1 others(4): Show |
a0002a0003 | a0002c0005a0002c0006a0003c0001 | a0002c0005t0001a0002c0006t0002a0003c0001t0001others(1): Show | a0002c0005t0001g0019a0002c0006t0002g0030a0003c0001t0001g0003others(4): Show | 7 | 74 | 0.0946 | 8 | c.259 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24824231 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(50): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(106): Show | 109 | 322 | 0.3385 | 8 | c.111 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24837096 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(95): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0064a0001c0001t0001g0094a0001c0001t0001g0291others(95): Show | 98 | 322 | 0.3044 | 8 | c.818 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24844894 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG01168.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0094a0001c0001t0003g0034a0001c0001t0003g0048others(21): Show | 24 | 322 | 0.0745 | 8 | c.675 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03453.hp2 NA18941.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0001g0205a0001c0001t0007g0244a0001c0001t0009g0057others(5): Show | 8 | 322 | 0.0248 | 8 | c.280 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01074.hp1 others(36): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0047a0001c0001t0001g0130a0001c0001t0001g0246others(36): Show | 39 | 322 | 0.1211 | 8 | c.78+ others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24947167 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02572.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0024others(1): Show | a0001c0001t0007g0017a0001c0001t0008g0287a0001c0001t0024g0018others(1): Show | 4 | 322 | 0.0124 | 8 | c.6+1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48793976 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0144a0001c0001t0001g0147others(1): Show | 4 | 408 | 0.0098 | 8 | c.*14 others(19): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1087 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48804156 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(275): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(168): Show | 278 | 408 | 0.6814 | 8 | c.300 others(25): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3/10 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0013others(35): Show | 56 | 408 | 0.1373 | 8 | c.-48 others(17): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41429825 | G | GTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(233): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(183): Show | 236 | 374 | 0.6310 | 8 | c.*52 others(19): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4824 | chr19 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80101783 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01109.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0179others(70): Show | 73 | 294 | 0.2483 | 8 | c.-49 others(19): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4887 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80107423 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0038 | a0001c0001t0004g0211a0001c0001t0004g0212a0001c0001t0004g0213others(1): Show | 4 | 294 | 0.0136 | 8 | c.196 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80134743 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(43): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0004g0141others(43): Show | 46 | 294 | 0.1565 | 8 | c.343 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80197934 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01891.hp2 HG02056.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0108a0001c0001t0004g0142a0001c0001t0004g0143others(20): Show | 23 | 294 | 0.0782 | 8 | c.743 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80248902 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0194a0001c0001t0005g0195a0001c0001t0005g0196 | 3 | 294 | 0.0102 | 8 | c.952 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDK_chr16_31103386_31117791 | 31117369 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0014 | 24 | 300 | 0.0800 | 8 | c.*51 others(19): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4579 | chr16 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85266909 | A | AAAAATAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0026 | a0001c0001t0011g0036a0001c0001t0011g0063a0001c0001t0026g0070 | 4 | 446 | 0.0090 | 8 | c.*71 others(17): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 3/3 | 717 | chr1 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60477600 | T | TAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00597.hp2 others(58): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0042a0001c0001t0001g0045a0001c0001t0001g0063others(58): Show | 61 | 262 | 0.2328 | 8 | c.386 others(25): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60540946 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02698.hp1 HG02738.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0052a0001c0002t0004others(3): Show | a0001c0001t0007g0098a0001c0001t0052g0166a0001c0002t0004g0073others(3): Show | 6 | 262 | 0.0229 | 8 | c.385 others(25): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAGAG others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG02109.hp1 HG02300.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0012a0001c0001t0060a0001c0001t0061others(1): Show | a0001c0001t0012g0213a0001c0001t0012g0215a0001c0001t0012g0217others(4): Show | 7 | 262 | 0.0267 | 8 | c.-24 others(17): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | |||||
BCL11B_chr14_99164287_99277197 | 99229003 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0188a0001c0001t0001g0208a0001c0001t0001g0234others(8): Show | 12 | 350 | 0.0343 | 8 | c.640 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99229039 | G | GATGGATG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0077a0001c0002t0003 | a0001c0001t0001g0203a0001c0001t0001g0271a0001c0001t0077g0290others(1): Show | 4 | 350 | 0.0114 | 8 | c.640 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99229043 | C | CATGGATG others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp1 HG02735.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0172others(9): Show | 12 | 350 | 0.0343 | 8 | c.640 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99229047 | G | GATGGATG others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02698.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0186a0001c0001t0003g0267a0001c0001t0005g0076others(4): Show | 7 | 350 | 0.0200 | 8 | c.640 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99229119 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01516.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0212a0001c0001t0002g0051a0001c0001t0002g0052others(11): Show | 14 | 350 | 0.0400 | 8 | c.640 others(25): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52111173 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG01261.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0063a0001c0001t0001g0141others(9): Show | 24 | 458 | 0.0524 | 8 | c.489 others(25): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111147327 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00733.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(11): Show | a0001c0001t0001g0252a0001c0001t0005g0003a0001c0001t0005g0028others(28): Show | 38 | 398 | 0.0955 | 8 | c.395 others(25): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L11_chr2_111115914_111173444 | 111147346 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02717.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0258a0001c0001t0001g0312others(7): Show | 12 | 398 | 0.0302 | 8 | c.395 others(25): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L11_chr2_111115914_111173444 | 111150882 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02922.hp2 NA18952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0245a0001c0001t0005g0029a0001c0001t0005g0169others(4): Show | 8 | 398 | 0.0201 | 8 | c.498 others(23): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L11_chr2_111115914_111173444 | 111170699 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG02970.hp2 NA18953.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0046a0001c0001t0048others(3): Show | a0001c0001t0005g0003a0001c0001t0005g0029a0001c0001t0005g0198others(5): Show | 8 | 398 | 0.0201 | 8 | c.*64 others(19): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2256 | chr2 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17646955 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01256.hp1 HG01258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0009a0001c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0002g0156a0001c0001t0002g0212a0001c0001t0004g0098others(6): Show | 9 | 306 | 0.0294 | 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 | 17680215 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 NA18942.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0002g0100a0001c0001t0002g0212a0001c0001t0007g0248others(6): Show | 9 | 306 | 0.0294 | 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 | 17685760 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0111a0001c0001t0002g0128a0001c0001t0002g0141others(16): Show | 19 | 306 | 0.0621 | 8 | c.229 others(25): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L14_chr12_12065939_12104695 | 12075410 | A | ATTCTTTC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0042others(67): Show | 83 | 454 | 0.1828 | 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 | 12102664 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(75): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0013others(67): Show | 78 | 454 | 0.1718 | 8 | c.*36 others(19): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 2970 | chr12 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31663105 | C | CACATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(6): Show | 9 | 186 | 0.0484 | 8 | c.*28 others(19): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1352 | chr20 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31663137 | T | TATACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0015others(15): Show | 19 | 186 | 0.1022 | 8 | c.*28 others(19): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1320 | chr20 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31667484 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02976.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075a0001c0001t0002g0090a0001c0001t0002g0091others(2): Show | 5 | 186 | 0.0269 | 8 | c.565 others(25): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCL2L2_chr14_23301833_23316751 | 23303486 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(6): Show | a0001c0001t0001g0001a0001c0001t0004g0001a0001c0001t0021g0001others(7): Show | 102 | 434 | 0.2350 | 8 | c.-35 others(19): Show |
BCL2L2 | ENSG00000129473.11 | transcript | ENST00000250405.10 | protein_coding | 3346 | chr14 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63133319 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02559.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0003g0192a0001c0001t0010g0189a0001c0001t0011g0033others(3): Show | 6 | 264 | 0.0227 | 8 | c.586 others(25): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169248 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0222a0001c0001t0001g0228a0001c0001t0001g0233others(8): Show | 11 | 264 | 0.0417 | 8 | c.586 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169307 | T | TCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0040 | a0001c0001t0001g0110a0001c0001t0001g0186a0001c0001t0012g0163others(3): Show | 6 | 264 | 0.0227 | 8 | c.586 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169336 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0224a0001c0001t0001g0228a0001c0001t0003g0148others(4): Show | 7 | 264 | 0.0265 | 8 | c.586 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63198415 | C | CACACACT others(1): Show |
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 | 63281666 | C | CAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0134a0001c0001t0001g0182a0001c0001t0001g0232others(8): Show | 11 | 264 | 0.0417 | 8 | c.585 others(27): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44764128 | G | GAGGAAGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0023others(10): Show | 15 | 344 | 0.0436 | 8 | c.*45 others(19): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4085 | chr19 | TogoVar | ||||||
BCL6_chr3_187716381_187750468 | 187737347 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02622.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0004t0001 | a0001c0001t0002g0105a0001c0002t0001g0021a0001c0004t0001g0155others(1): Show | 5 | 404 | 0.0124 | 8 | c.-49 others(25): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122021920 | G | GTGTGTGT others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0043a0001c0001t0082a0001c0001t0083others(1): Show | a0001c0001t0043g0275a0001c0001t0082g0128a0001c0001t0083g0343others(1): Show | 4 | 362 | 0.0111 | 8 | c.-16 others(17): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 1/6 | 164 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
BCL9L_chr11_118891136_118930926 | 118926518 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA18747.hp1 NA19054.hp1 |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0001 | 3 | 250 | 0.0120 | 8 | c.-14 others(19): Show |
BCL9L | ENSG00000186174.13 | transcript | ENST00000683865.1 | protein_coding | 593 | chr11 | TogoVar |