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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0006 | a0006c0024 | a0006c0024t0001 | a0006c0024t0001g0282 | 1 | 17 | 0.0588 | -17 | c.106 others(34): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102847356 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01361.hp2 others(48): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0010a0001c0003t0020others(1): Show | a0001c0003t0002g0004 a0001c0003t0002g0007 a0001c0003t0002g0012 others(27): Show |
51 | 378 | 0.1349 | -17 | c.-95 others(34): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474968 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 338 | 0.0030 | -17 | c.652 others(34): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17814613 | CCTGAGCA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 404 | 0.0025 | -17 | c.*24 others(28): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1038 | chr19 | TogoVar | |||||||
B3GNT6_chr11_77029398_77046973 | 77046265 | CCGCATCC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 440 | 0.0023 | -17 | c.*55 others(28): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 4293 | chr11 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511013 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0384 | 1 | 40 | 0.0250 | -17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511438 | CCTTCCAC others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0044others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(20): Show | a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0062 others(23): Show |
26 | 389 | 0.0668 | -17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511819 | CCTTCCAC others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0004 | a0003c0004t0020 | a0003c0004t0020g0189 | 1 | 390 | 0.0026 | -17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512183 | TCCACCTT others(10): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0013a0001c0016others(6): Show | a0001c0002t0013a0001c0013t0002a0001c0016t0088others(7): Show | a0001c0002t0013g0175 a0001c0013t0002g0177 a0001c0016t0088g0229 others(9): Show |
12 | 392 | 0.0306 | -17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512276 | CCTTCCAC others(10): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0004 | a0004c0005 | a0004c0005t0014 | a0004c0005t0014g0290 | 1 | 351 | 0.0028 | -17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545656 | AGTGGGGA others(10): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01168.hp2 others(18): Show |
a0001a0004a0005others(3): Show | a0001c0002a0004c0005a0005c0006others(4): Show | a0001c0002t0002a0004c0005t0004a0004c0005t0043others(16): Show | a0001c0002t0002g0331 a0004c0005t0004g0354 a0004c0005t0043g0219 others(18): Show |
21 | 387 | 0.0543 | -17 | c.639 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545787 | AGAGGAAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG02622.hp2 others(8): Show |
a0002a0007a0021 | a0002c0003a0007c0008a0021c0046 | a0002c0003t0050a0002c0003t0090a0007c0008t0007others(5): Show | a0002c0003t0050g0278 a0002c0003t0090g0145 a0007c0008t0007g0187 others(8): Show |
11 | 388 | 0.0284 | -17 | c.639 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545967 | GTGAGAGG others(10): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 |
a0001 | a0001c0002 | a0001c0002t0081a0001c0002t0094 | a0001c0002t0081g0279 a0001c0002t0094g0141 |
2 | 392 | 0.0051 | -17 | c.639 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 370004 | GGCGCGGG others(10): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0164 | 1 | 181 | 0.0055 | -17 | c.151 others(30): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33166271 | ATCAGGAG others(10): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0005 | a0004c0005t0043 | a0004c0005t0043g0287 | 1 | 364 | 0.0027 | -17 | c.412 others(32): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31688796 | AAAGGTAG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0015a0001c0005t0007 | a0001c0001t0008g0225 a0001c0001t0008g0246 a0001c0001t0015g0247 others(1): Show |
4 | 304 | 0.0132 | -17 | c.-43 others(28): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 4216 | chr18 | TogoVar | |||||||
B4GALT7_chr5_177595132_177615330 | 177615115 | TGCTGCTG others(10): Show |
T | downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 456 | 0.0022 | -17 | c.*54 others(28): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 4786 | chr5 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17273547 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG02572.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0035 a0001c0001t0001g0071 a0001c0001t0001g0077 others(4): Show |
9 | 421 | 0.0214 | -17 | c.345 others(32): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27920320 | GATGCCTT others(10): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0016 |
3 | 156 | 0.0192 | -17 | c.129 others(34): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28315446 | CTTTTCTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0138 |
2 | 156 | 0.0128 | -17 | c.108 others(38): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90014458 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0041others(14): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0003g0053 others(17): Show |
20 | 190 | 0.1053 | -17 | c.-12 others(34): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90014460 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0011a0001c0001t0044others(3): Show | a0001c0001t0003g0029 a0001c0001t0011g0126 a0001c0001t0044g0164 others(3): Show |
6 | 191 | 0.0314 | -17 | c.-12 others(34): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201863 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 302 | 0.0033 | -17 | c.379 others(34): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201870 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 302 | 0.0033 | -17 | c.379 others(34): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81393913 | CCCCTTTC others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03486.hp1 |
a0002a0017 | a0002c0010a0017c0023 | a0002c0010t0009a0017c0023t0038 | a0002c0010t0009g0014 a0017c0023t0038g0027 |
2 | 330 | 0.0061 | -17 | c.-19 others(28): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 1543 | chr17 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81446526 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0008 | a0002c0008t0030 | a0002c0008t0030g0264 | 1 | 60 | 0.0167 | -17 | c.316 others(34): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHD1_chr15_40435953_40473236 | 40470922 | CCCCGCCC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0115 | 1 | 370 | 0.0027 | -17 | c.*47 others(28): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 2687 | chr15 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357039 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195 | 1 | 296 | 0.0034 | -17 | c.128 others(34): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81056903 | GTTTTTCT others(10): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0217 | 1 | 373 | 0.0027 | -17 | c.131 others(32): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81091909 | TGGTGGTG others(10): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 374 | 0.0027 | -17 | c.489 others(34): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAK1_chr6_33567552_33585276 | 33575610 | AGGCATGG others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0086 |
5 | 432 | 0.0116 | -17 | c.206 others(32): Show |
BAK1 | ENSG00000030110.14 | transcript | ENST00000374467.4 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 101839937 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00735.hp1 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0001others(9): Show | a0001c0001t0002g0035 a0001c0002t0001g0109 a0002c0003t0001g0206 others(25): Show |
28 | 56 | 0.5000 | -17 | c.469 others(34): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88081751 | AGGGATGT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0005a0001c0009t0005a0001c0011t0005others(2): Show | a0001c0001t0005g0253 a0001c0009t0005g0005 a0001c0009t0005g0098 others(11): Show |
15 | 350 | 0.0429 | -17 | c.*50 others(28): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4436 | chr16 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214722689 | GAAATGAC others(10): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02055.hp1 others(17): Show |
a0004a0005a0008others(3): Show | a0004c0007a0005c0006a0008c0009others(3): Show | a0004c0007t0069a0005c0006t0020a0005c0006t0047others(7): Show | a0004c0007t0069g0254 a0005c0006t0020g0028 a0005c0006t0020g0029 others(14): Show |
20 | 360 | 0.0556 | -17 | c.*59 others(28): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 2956 | chr2 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73456937 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02965.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0005g0181 others(1): Show |
4 | 11 | 0.3636 | -17 | c.343 others(36): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159383384 | TCTTCTAA others(10): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01361.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0104 a0002c0002t0002g0143 a0003c0003t0001g0031 others(9): Show |
12 | 214 | 0.0561 | -17 | c.376 others(34): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 24/36 | chr2 | TogoVar | |||||||
BBS10_chr12_76339474_76353415 | 76340000 | CCCACCTC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 414 | 0.0048 | -17 | c.*57 others(28): Show |
BBS10 | ENSG00000179941.9 | transcript | ENST00000650064.2 | protein_coding | 4473 | chr12 | TogoVar | |||||||
BBS5_chr2_169474494_169511655 | 169489851 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0152 | 1 | 13 | 0.0769 | -17 | c.386 others(34): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107616005 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0206 a0001c0008t0001g0122 |
2 | 27 | 0.0741 | -17 | c.-83 others(36): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107769224 | AGATAGAC others(10): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0031 a0001c0001t0002g0216 a0001c0001t0020g0023 |
3 | 220 | 0.0136 | -17 | c.907 others(34): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAM_chr19_44804103_44826421 | 44819913 | CCATCCCC others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(223): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(100): Show |
226 | 408 | 0.5539 | -17 | c.176 others(34): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93573130 | TCAGGCCT others(10): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01069.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0008a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(4): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0054 others(19): Show |
22 | 200 | 0.1100 | -17 | c.180 others(36): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60683505 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0034 | 1 | 10 | 0.1000 | -17 | c.84- others(30): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60770400 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0028 | 1 | 5 | 0.2000 | -17 | c.403 others(36): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796470 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0007g0142 |
3 | 268 | 0.0112 | -17 | c.90+ others(32): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50796475 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 267 | 0.0037 | -17 | c.90+ others(32): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50816791 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0047 | 1 | 90 | 0.0111 | -17 | c.91- others(32): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24829071 | CAAAATAT others(10): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0271 | 1 | 320 | 0.0031 | -17 | c.111 others(34): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60530654 | GATGTACA others(10): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0008 | 1 | 260 | 0.0038 | -17 | c.385 others(36): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99219291 | CCCAAAGT others(10): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0336 | 1 | 348 | 0.0029 | -17 | c.640 others(36): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar |