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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCLAF1_chr6_136251627_136294846 | 136261156 | GGA | G | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0029a0001c0001t0015g0251 | 3 | 310 | 0.0097 | -2 | c.275 others(17): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 12/12 | chr6 | TogoVar | ||||||
BCLAF1_chr6_136251627_136294846 | 136283178 | CAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0120a0001c0001t0001g0122a0001c0001t0002g0089others(9): Show | 12 | 310 | 0.0387 | -2 | c.-11 others(19): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
BCLAF1_chr6_136251627_136294846 | 136291257 | CAT | C | upstream_gene_variant | MODIFIER | NA18939.hp2 NA18970.hp2 NA18980.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0040a0001c0001t0005g0001a0001c0001t0005g0010others(2): Show | 14 | 310 | 0.0452 | -2 | c.-16 others(13): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 1412 | chr6 | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19908168 | CCA | C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0058a0001c0001t0015g0059a0001c0001t0015g0060 | 3 | 207 | 0.0145 | -2 | c.*91 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4691 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19908348 | CAA | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0001a0001c0001t0002g0022a0001c0001t0002g0023others(47): Show | 51 | 207 | 0.2464 | -2 | c.*89 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4511 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19909211 | ATT | A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02723.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0038 | a0001c0001t0003g0078a0001c0001t0008g0021a0001c0001t0038g0050 | 3 | 207 | 0.0145 | -2 | c.*80 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 3648 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19909361 | CAT | C | downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0199 | 1 | 207 | 0.0048 | -2 | c.*79 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 3498 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19909987 | AAC | A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0077a0001c0001t0003g0078a0001c0001t0003g0079others(32): Show | 36 | 207 | 0.1739 | -2 | c.*73 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 2872 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19910577 | CTT | C | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0180 | 1 | 207 | 0.0048 | -2 | c.*67 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 2282 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19912352 | ATT | A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0001a0001c0001t0002g0022a0001c0001t0002g0023others(71): Show | 76 | 207 | 0.3672 | -2 | c.*49 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 507 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19919856 | CAA | C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0063 | 1 | 207 | 0.0048 | -2 | c.210 others(21): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 11/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19923843 | TTA | T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0088 | 1 | 207 | 0.0048 | -2 | c.210 others(21): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 11/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19923845 | ATT | A | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(15): Show | a0001c0001t0003g0077a0001c0001t0003g0078a0001c0001t0003g0079others(34): Show | 38 | 207 | 0.1836 | -2 | c.210 others(21): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 11/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19963181 | CTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01070.hp1 others(77): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0102a0001c0001t0002g0001a0001c0001t0002g0022others(75): Show | 80 | 207 | 0.3865 | -2 | c.127 others(21): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19975242 | TAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0035 | a0001c0001t0008g0021a0001c0001t0009g0040a0001c0001t0009g0044others(3): Show | 6 | 207 | 0.0290 | -2 | c.-34 others(19): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19982549 | TCA | T | intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01256.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0019 | a0001c0001t0001g0122a0001c0001t0001g0136a0001c0001t0001g0137others(2): Show | 5 | 207 | 0.0242 | -2 | c.-35 others(19): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19982956 | TTC | T | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0004g0002a0001c0001t0004g0052a0001c0001t0004g0053others(11): Show | 15 | 207 | 0.0725 | -2 | c.-35 others(19): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19982958 | CTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0035a0001c0001t0005g0064a0001c0001t0005g0065others(3): Show | 6 | 207 | 0.0290 | -2 | c.-35 others(19): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19990925 | GCC | G | 5_prime_UTR_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0090 | 1 | 207 | 0.0048 | -2 | c.-54 others(9): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20662 | chrX | TogoVar | |||||
BCLAF3_chrX_19907860_19996061 | 19994704 | GTA | G | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 207 | 0.0048 | -2 | c.-38 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 3644 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19994734 | GTA | G | upstream_gene_variant | MODIFIER | HG01256.hp1 HG02451.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0017others(2): Show | a0001c0001t0007g0197a0001c0001t0015g0060a0001c0001t0017g0187others(3): Show | 6 | 207 | 0.0290 | -2 | c.-38 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 3674 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19994911 | CTA | C | upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0090 | 1 | 207 | 0.0048 | -2 | c.-40 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 3851 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995605 | GAA | G | upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 207 | 0.0048 | -2 | c.-47 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4545 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995647 | AAG | A | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 207 | 0.0048 | -2 | c.-47 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4587 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81235157 | CAT | C | upstream_gene_variant | MODIFIER | HG01928.hp2 HG02683.hp1 HG02698.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0006t0001others(2): Show | a0001c0001t0001g0227a0001c0001t0001g0254a0001c0001t0001g0264others(5): Show | 8 | 402 | 0.0199 | -2 | c.-37 others(13): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3531 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81235199 | TAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0147a0001c0001t0001g0180others(36): Show | 40 | 402 | 0.0995 | -2 | c.-37 others(13): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3489 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81235201 | AAT | A | upstream_gene_variant | MODIFIER | HG00673.hp1 NA18947.hp2 NA19068.hp1 others(1): Show |
a0003a0007 | a0003c0003a0007c0026 | a0003c0003t0001a0007c0026t0001 | a0003c0003t0001g0316a0003c0003t0001g0367a0003c0003t0001g0388others(1): Show | 4 | 402 | 0.0100 | -2 | c.-37 others(13): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3487 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81239020 | ATT | A | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01884.hp2 others(12): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0005a0002c0004others(3): Show | a0001c0002t0001a0001c0005t0001a0002c0004t0001others(3): Show | a0001c0002t0001g0014a0001c0002t0001g0015a0001c0002t0001g0016others(12): Show | 15 | 402 | 0.0373 | -2 | c.64+ others(13): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81242192 | CTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00733.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0164a0001c0002t0001g0042a0001c0002t0001g0043others(15): Show | 18 | 402 | 0.0448 | -2 | c.64+ others(17): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81246850 | CAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01256.hp2 others(5): Show |
a0001a0012 | a0001c0005a0012c0012 | a0001c0005t0001a0012c0012t0001 | a0001c0005t0001g0022a0001c0005t0001g0023a0001c0005t0001g0024others(5): Show | 8 | 402 | 0.0199 | -2 | c.193 others(19): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81247251 | TCA | T | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 NA18939.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0334a0003c0003t0001g0335a0003c0003t0001g0336others(2): Show | 5 | 402 | 0.0124 | -2 | c.193 others(19): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81251852 | GCA | G | intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03471.hp1 |
a0002 | a0002c0006a0002c0020 | a0002c0006t0001a0002c0020t0001 | a0002c0006t0001g0028a0002c0006t0001g0173a0002c0020t0001g0275 | 3 | 402 | 0.0075 | -2 | c.193 others(19): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81269911 | CAA | C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03041.hp2 |
a0002 | a0002c0004a0002c0020 | a0002c0004t0001a0002c0020t0001 | a0002c0004t0001g0009a0002c0004t0001g0011a0002c0020t0001g0275 | 3 | 402 | 0.0075 | -2 | c.844 others(17): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81274258 | CTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 HG01928.hp2 others(6): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0244a0001c0001t0001g0286a0001c0001t0001g0331others(6): Show | 9 | 402 | 0.0224 | -2 | c.110 others(21): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81280269 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01358.hp1 HG02738.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0280a0001c0001t0001g0393a0001c0002t0001g0014others(8): Show | 11 | 402 | 0.0274 | -2 | c.110 others(19): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81280324 | GAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(290): Show | 299 | 402 | 0.7438 | -2 | c.110 others(19): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81294614 | TAA | T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(17): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0182a0001c0001t0001g0191a0001c0001t0001g0205others(17): Show | 20 | 402 | 0.0498 | -2 | c.*40 others(13): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3473 | chr16 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112189403 | AAT | A | intron_variant | MODIFIER | HG02523.hp1 HG02647.hp1 HG03579.hp1 others(3): Show |
a0001a0011a0017 | a0001c0001a0011c0015a0017c0021 | a0001c0001t0001a0011c0015t0001a0017c0021t0002 | a0001c0001t0001g0042a0001c0001t0001g0190a0001c0001t0001g0219others(3): Show | 6 | 380 | 0.0158 | -2 | c.294 others(19): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112197236 | CTT | C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0106a0001c0001t0001g0107others(4): Show | 7 | 380 | 0.0184 | -2 | c.737 others(19): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112210756 | GCA | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(78): Show |
a0001a0010a0014others(1): Show | a0001c0001a0010c0023a0014c0019others(1): Show | a0001c0001t0001a0001c0001t0007a0010c0023t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0020others(77): Show | 81 | 380 | 0.2132 | -2 | c.119 others(21): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112211319 | TAC | T | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00639.hp1 others(121): Show |
a0001a0002a0010others(3): Show | a0001c0001a0002c0002a0010c0023others(3): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0018others(117): Show | 124 | 380 | 0.3263 | -2 | c.119 others(21): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112213131 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp1 others(124): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(115): Show | 127 | 380 | 0.3342 | -2 | c.119 others(19): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129982087 | GAA | G | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 203 | 0.0049 | -2 | c.-71 others(11): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 547 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 129983426 | TGG | T | intron_variant | MODIFIER | HG02922.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0006 | a0001c0001t0001g0197a0001c0005t0006g0196 | 2 | 203 | 0.0099 | -2 | c.-45 others(17): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129984507 | CAG | C | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0139a0001c0005t0008g0140 | 2 | 203 | 0.0099 | -2 | c.-45 others(19): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129989444 | CTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 HG01934.hp1 others(11): Show |
a0001a0006 | a0001c0001a0001c0010a0006c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0106others(11): Show | 14 | 203 | 0.0690 | -2 | c.-45 others(19): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129999060 | GTT | G | intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0099a0001c0001t0007g0057a0001c0001t0007g0059 | 3 | 203 | 0.0148 | -2 | c.-44 others(19): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129999297 | CTT | C | intron_variant | MODIFIER | HG02451.hp1 HG03041.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0124a0001c0001t0002g0099a0001c0001t0007g0057others(2): Show | 5 | 203 | 0.0246 | -2 | c.-44 others(19): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130000896 | TTG | T | intron_variant | MODIFIER | HG03041.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0006 | a0001c0001t0002g0099a0001c0005t0006g0196 | 2 | 203 | 0.0099 | -2 | c.-44 others(19): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130010152 | AGG | A | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0139a0001c0005t0008g0140 | 2 | 203 | 0.0099 | -2 | c.87- others(17): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar |