| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BBS9_chr7_33124564_33611069 | 33596294 | ACACACT | A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG03209.hp2 others(1): Show |
a0002a0005a0006 | a0002c0002a0005c0012a0006c0005 | a0002c0002t0007a0005c0012t0007a0006c0005t0007 | a0002c0002t0007g0165a0002c0002t0007g0166a0005c0012t0007g0235others(1): Show | 4 | 268 | 0.0149 | -6 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33597069 | TCACACA | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(21): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0049a0001c0001t0001g0063a0001c0001t0001g0079others(21): Show | 24 | 268 | 0.0896 | -6 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107584672 | CTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01256.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(13): Show | a0001c0001t0002g0006a0001c0001t0002g0009a0001c0001t0002g0013others(21): Show | 24 | 222 | 0.1081 | -6 | c.-84 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107616005 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01081.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0200a0001c0001t0002g0214a0001c0001t0002g0216others(9): Show | 12 | 222 | 0.0541 | -6 | c.-83 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107638780 | TACACAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp2 HG01516.hp1 others(12): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0072a0001c0001t0001g0168a0001c0001t0002g0009others(12): Show | 15 | 222 | 0.0676 | -6 | c.-83 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107700411 | CATCATT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(55): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0041others(55): Show | 58 | 222 | 0.2613 | -6 | c.-9- others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107700414 | CATTATT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01884.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(12): Show | a0001c0001t0002g0200a0001c0001t0006g0203a0001c0001t0010g0036others(17): Show | 20 | 222 | 0.0901 | -6 | c.-9- others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107797337 | AATATAT | A | intron_variant | MODIFIER | HG01081.hp2 HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0046 | a0001c0001t0002g0214a0001c0001t0002g0216a0001c0001t0046g0213 | 3 | 222 | 0.0135 | -6 | c.235 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BCAM_chr19_44804103_44826421 | 44815459 | CAGATGG | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(44): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0113a0001c0001t0001g0118a0001c0001t0001g0137others(25): Show | 47 | 410 | 0.1146 | -6 | c.107 others(23): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 8/14 | chr19 | TogoVar | ||||||
| BCAP29_chr7_107575246_107625478 | 107603935 | ATTCAGT | A | intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347a0001c0001t0002g0348a0001c0001t0002g0349 | 3 | 398 | 0.0075 | -6 | c.589 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
| BCAP29_chr7_107575246_107625478 | 107612391 | TTATATA | T | intron_variant | MODIFIER | HG02083.hp1 NA18962.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078a0001c0001t0002g0294a0001c0001t0002g0306 | 3 | 398 | 0.0075 | -6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BCAR1_chr16_75223181_75256624 | 75234160 | GACAGAC | G | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG02717.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0002c0020others(3): Show | a0001c0001t0002a0002c0005t0001a0002c0020t0001others(4): Show | a0001c0001t0002g0171a0002c0005t0001g0193a0002c0020t0001g0044others(6): Show | 13 | 392 | 0.0332 | -6 | c.201 others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| BCAR1_chr16_75223181_75256624 | 75234164 | GACACAC | G | intron_variant | MODIFIER | HG02922.hp1 HG03486.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110a0001c0003t0001g0123a0001c0003t0001g0214 | 3 | 392 | 0.0077 | -6 | c.201 others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| BCAR3_chr1_93556741_93686837 | 93593728 | AAACAAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01516.hp2 others(28): Show |
a0001a0011a0014 | a0001c0001a0001c0002a0011c0017others(1): Show | a0001c0001t0001a0001c0002t0001a0011c0017t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(25): Show | 31 | 202 | 0.1535 | -6 | c.358 others(23): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| BCAR3_chr1_93556741_93686837 | 93621862 | GTTTTGT | G | intron_variant | MODIFIER | HG01361.hp2 HG01952.hp1 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0161a0001c0001t0001g0163others(2): Show | 5 | 202 | 0.0248 | -6 | c.357 others(25): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0065a0001c0001t0001g0066others(5): Show | 8 | 202 | 0.0396 | -6 | c.-11 others(21): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 53946516 | TATATAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0030others(14): Show | a0001c0001t0009g0188a0001c0001t0009g0200a0001c0001t0009g0230others(27): Show | 30 | 364 | 0.0824 | -6 | c.181 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 53954294 | GGAGAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00639.hp1 others(28): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0017a0002c0002others(8): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(23): Show | a0001c0001t0003g0165a0001c0001t0009g0259a0001c0001t0010g0077others(28): Show | 31 | 364 | 0.0852 | -6 | c.155 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 53960491 | AAAAAAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01167.hp2 others(18): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0007c0008others(5): Show | a0001c0001t0020a0002c0002t0017a0007c0008t0002others(11): Show | a0001c0001t0020g0189a0002c0002t0017g0285a0007c0008t0002g0152others(18): Show | 21 | 364 | 0.0577 | -6 | c.148 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 53960493 | AAAAGAG | A | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01069.hp2 others(37): Show |
a0004a0009a0013others(7): Show | a0004c0004a0009c0009a0013c0013others(7): Show | a0004c0004t0001a0004c0004t0003a0004c0004t0006others(16): Show | a0004c0004t0001g0184a0004c0004t0001g0287a0004c0004t0003g0080others(37): Show | 40 | 364 | 0.1099 | -6 | c.148 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 53962653 | AATATGT | A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0017a0002c0002others(9): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0039others(17): Show | a0001c0001t0009g0259a0001c0001t0010g0077a0001c0001t0039g0358others(23): Show | 26 | 364 | 0.0714 | -6 | c.148 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 54043325 | TGATGAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG03209.hp2 others(1): Show |
a0001a0002a0027 | a0001c0001a0002c0002a0027c0037 | a0001c0001t0009a0001c0001t0010a0002c0002t0010others(1): Show | a0001c0001t0009g0259a0001c0001t0010g0077a0002c0002t0010g0244others(1): Show | 4 | 364 | 0.0110 | -6 | c.143 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
| BCAS2_chr1_114562557_114586615 | 114576431 | TTTATTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(93): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0008others(39): Show | 96 | 414 | 0.2319 | -6 | c.257 others(21): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
| BCAS3_chr17_60672851_61397831 | 60752155 | GGTGTGT | G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(12): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0003c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0056a0001c0002t0002g0053a0001c0002t0002g0054others(12): Show | 15 | 74 | 0.2027 | -6 | c.403 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60754680 | TACACAC | T | intron_variant | MODIFIER | HG03225.hp1 NA20129.hp1 |
a0001a0002 | a0001c0004a0002c0006 | a0001c0004t0001a0002c0006t0002 | a0001c0004t0001g0058a0002c0006t0002g0030 | 2 | 74 | 0.0270 | -6 | c.403 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60782561 | GTTATTA | G | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02451.hp2 others(15): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0002c0005others(1): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(5): Show | a0001c0004t0001g0045a0001c0004t0001g0058a0001c0004t0002g0050others(15): Show | 18 | 74 | 0.2432 | -6 | c.404 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60803046 | AGTGCCC | A | intron_variant | MODIFIER | HG02809.hp1 HG03579.hp1 |
a0003 | a0003c0001 | a0003c0001t0001a0003c0001t0002 | a0003c0001t0001g0028a0003c0001t0002g0022 | 2 | 74 | 0.0270 | -6 | c.404 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | chr17 | TogoVar | ||||||
| BCAS3_chr17_60672851_61397831 | 60814269 | TTGTGTG | T | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03130.hp2 |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001 | a0002c0005t0001g0018a0002c0005t0001g0020a0002c0007t0001g0004 | 3 | 74 | 0.0405 | -6 | c.476 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60920870 | AAACAAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02886.hp1 others(3): Show |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(1): Show | a0002c0003t0001g0015a0002c0003t0001g0037a0002c0003t0002g0036others(3): Show | 6 | 74 | 0.0811 | -6 | c.994 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 60992189 | TACACAC | T | intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0038a0002c0003t0001g0041 | 2 | 74 | 0.0270 | -6 | c.148 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61018290 | GTTTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02083.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0002g0053others(14): Show | 17 | 74 | 0.2297 | -6 | c.163 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61067271 | GTGTATA | G | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 NA20129.hp1 |
a0002 | a0002c0005a0002c0006 | a0002c0005t0001a0002c0006t0002 | a0002c0005t0001g0020a0002c0005t0001g0073a0002c0006t0002g0030 | 3 | 74 | 0.0405 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61067720 | AACAAAC | A | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02451.hp1 others(11): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0061a0001c0002t0001g0063others(11): Show | 14 | 74 | 0.1892 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61070366 | AATATAT | A | intron_variant | MODIFIER | HG02083.hp2 HG02559.hp1 HG02922.hp1 others(6): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0002c0005others(1): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(3): Show | a0001c0004t0001g0045a0001c0004t0002g0044a0002c0003t0001g0038others(6): Show | 9 | 74 | 0.1216 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61070938 | AAACAAC | A | intron_variant | MODIFIER | HG02083.hp2 NA18951.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001 | a0002c0003t0001g0040a0003c0001t0001g0011 | 2 | 74 | 0.0270 | -6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61089509 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02965.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(3): Show | a0001c0002t0001a0001c0004t0001a0002c0005t0001others(3): Show | a0001c0002t0001g0071a0001c0004t0001g0058a0002c0005t0001g0051others(3): Show | 6 | 74 | 0.0811 | -6 | c.242 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61166387 | CTCTCTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0002g0053others(22): Show | 25 | 74 | 0.3378 | -6 | c.242 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61193757 | CAAAAAA | C | intron_variant | MODIFIER | HG02486.hp2 HG02897.hp1 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0008t0002others(2): Show | a0001c0002t0001g0042a0001c0004t0001g0049a0001c0008t0002g0062others(4): Show | 7 | 74 | 0.0946 | -6 | 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 | 61246792 | AGTGTGT | A | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0003t0003others(1): Show | a0001c0002t0002g0064a0001c0004t0002g0044a0002c0003t0003g0013others(2): Show | 5 | 74 | 0.0676 | -6 | 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 | 61361201 | AAAAAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0006others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0006t0002others(1): Show | a0001c0002t0001g0056a0001c0004t0001g0047a0002c0006t0002g0030others(1): Show | 4 | 74 | 0.0541 | -6 | c.242 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61371322 | TGTAACA | T | intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0061a0001c0002t0001g0067a0002c0005t0001g0051 | 3 | 74 | 0.0405 | -6 | c.259 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAT1_chr12_24805024_24954101 | 24827905 | CTTTTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01070.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0015others(14): Show | a0001c0001t0006g0183a0001c0001t0006g0187a0001c0001t0006g0202others(29): Show | 32 | 322 | 0.0994 | -6 | c.111 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24836906 | GAGAGAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00735.hp1 others(31): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0092a0001c0001t0002g0004a0001c0001t0002g0096others(31): Show | 34 | 322 | 0.1056 | -6 | c.818 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24836955 | AAAAGAG | A | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025 | a0001c0001t0006g0281a0001c0001t0006g0283a0001c0001t0025g0282 | 3 | 322 | 0.0093 | -6 | c.818 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24857478 | TTATCTA | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0064a0001c0001t0001g0094a0001c0001t0001g0291others(51): Show | 54 | 322 | 0.1677 | -6 | c.511 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24917195 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00741.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0121a0001c0001t0001g0188a0001c0001t0001g0189others(22): Show | 25 | 322 | 0.0776 | -6 | c.7-1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24928704 | TTTGTTG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(14): Show | a0001c0001t0001g0037a0001c0001t0001g0189a0001c0001t0003g0048others(17): Show | 20 | 322 | 0.0621 | -6 | c.6+2 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24933109 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0060others(102): Show | 105 | 322 | 0.3261 | -6 | c.6+1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24947167 | CCACACA | C | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0060others(3): Show | a0001c0001t0001g0019a0001c0001t0002g0020a0001c0001t0060g0097others(3): Show | 6 | 322 | 0.0186 | -6 | c.6+1 others(19): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24951590 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0002g0252a0001c0001t0005g0237a0001c0001t0007g0230others(6): Show | 9 | 322 | 0.0280 | -6 | c.-26 others(17): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar |