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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS4_chr15_72681207_72743473 | 72725055 | T | TAGAGAG | intron_variant | MODIFIER | HG03130.hp2 NA18906.hp1 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213 a0002c0002t0001g0221 a0002c0002t0001g0250 |
3 | 303 | 0.0099 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725057 | T | TAGAGAG | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0004 | a0001c0001t0002g0269 a0002c0002t0001g0198 a0002c0002t0001g0199 others(10): Show |
13 | 152 | 0.0855 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725057 | T | TATAGAG | intron_variant | MODIFIER | HG02071.hp1 HG03710.hp2 HG04199.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0180 a0002c0002t0001g0225 a0002c0002t0001g0233 others(1): Show |
4 | 143 | 0.0280 | 6 | c.587 others(21): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121832009 | A | AACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 others(53): Show |
82 | 209 | 0.3923 | 6 | c.167 others(25): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33184097 | C | CAGAGAG | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01261.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0001c0026others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0055 others(26): Show |
29 | 170 | 0.1706 | 6 | c.442 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33234699 | C | CCACACA | intron_variant | MODIFIER | HG02257.hp2 HG02698.hp1 HG02738.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0113 a0001c0001t0001g0229 a0001c0001t0002g0220 others(1): Show |
4 | 212 | 0.0189 | 6 | c.443 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33249226 | G | GACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00738.hp1 others(20): Show |
a0001a0010 | a0001c0001a0001c0013a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0161 a0001c0001t0001g0242 a0001c0001t0001g0244 others(20): Show |
23 | 148 | 0.1554 | 6 | c.443 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33368577 | T | TACACAC | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0039 a0002c0002t0001g0197 a0004c0004t0001g0182 others(1): Show |
4 | 136 | 0.0294 | 6 | c.178 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33492811 | A | AGTGTGT | intron_variant | MODIFIER | HG00609.hp2 HG01168.hp1 HG02451.hp2 others(5): Show |
a0001a0007a0009 | a0001c0001a0007c0006a0009c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0072 a0001c0001t0001g0142 a0001c0001t0002g0120 others(5): Show |
8 | 46 | 0.1739 | 6 | c.211 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565781 | G | GTATATA | intron_variant | MODIFIER | HG02109.hp2 HG03516.hp1 HG04204.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0191 others(3): Show |
6 | 61 | 0.0984 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565819 | A | ATACCGC | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(5): Show |
8 | 248 | 0.0323 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565844 | T | TTATATA | intron_variant | MODIFIER | HG01517.hp1 HG02523.hp2 HG03490.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0004 | a0001c0001t0006g0054 a0001c0001t0006g0081 a0001c0001t0006g0101 others(3): Show |
6 | 113 | 0.0531 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33574684 | A | AACACAC | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01106.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 others(17): Show |
20 | 187 | 0.1070 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33574725 | A | ACACATG | intron_variant | MODIFIER | HG01261.hp2 HG02602.hp2 HG03834.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0162 others(3): Show |
6 | 259 | 0.0232 | 6 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33596299 | C | CACACAT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp2 others(21): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0001c0026others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0113 others(21): Show |
24 | 155 | 0.1548 | 6 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107523218 | A | AGCGGCG | intron_variant | MODIFIER | HG01952.hp1 HG02132.hp1 NA18970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 others(1): Show |
4 | 197 | 0.0203 | 6 | c.-15 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107638780 | T | TACACAC | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 NA18986.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0004c0005t0001a0004c0005t0002 | a0001c0001t0003g0077 a0004c0005t0001g0064 a0004c0005t0002g0165 |
3 | 25 | 0.1200 | 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 | 107737884 | G | GTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018 a0001c0001t0002g0089 a0001c0001t0002g0166 others(13): Show |
16 | 46 | 0.3478 | 6 | c.669 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATAT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp1 others(13): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0158 a0001c0001t0002g0089 a0001c0001t0002g0166 others(13): Show |
16 | 104 | 0.1538 | 6 | c.220 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643633 | C | CAGAGAG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(42): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0088 a0001c0001t0001g0096 others(24): Show |
45 | 102 | 0.4412 | 6 | c.-9+ others(21): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643635 | C | CACACAG | intron_variant | MODIFIER | HG01928.hp2 HG03098.hp2 NA18906.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0014 | a0001c0001t0001a0002c0002t0001a0009c0014t0001 | a0001c0001t0001g0060 a0002c0002t0001g0054 a0009c0014t0001g0152 |
4 | 14 | 0.2857 | 6 | c.-9+ others(21): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643635 | C | CACAGAG | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 HG03209.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0061 a0003c0004t0002g0283 a0003c0004t0002g0284 |
3 | 13 | 0.2308 | 6 | c.-9+ others(21): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156661555 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0063 others(73): Show |
92 | 200 | 0.4600 | 6 | c.*24 others(17): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2028 | chr1 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107612391 | T | TTATATA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00597.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0021 a0001c0001t0002g0250 a0001c0001t0002g0260 others(10): Show |
14 | 122 | 0.1148 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612433 | A | ATTTATT | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0338 |
3 | 183 | 0.0164 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612437 | A | ATATATT | intron_variant | MODIFIER | HG00423.hp2 HG01358.hp2 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 a0001c0001t0003g0212 a0001c0001t0003g0214 others(1): Show |
4 | 109 | 0.0367 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612437 | A | ATTTATT | intron_variant | MODIFIER | NA18998.hp2 NA19075.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0329 |
3 | 108 | 0.0278 | 6 | c.590 others(21): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153709161 | C | CTGAGGT | intron_variant | MODIFIER | HG00558.hp1 HG02129.hp1 HG02132.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0052 others(5): Show |
16 | 265 | 0.0604 | 6 | c.342 others(23): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 4/7 | chrX | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75225506 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(26): Show |
a0001a0002a0008others(1): Show | a0001c0003a0001c0008a0001c0022others(3): Show | a0001c0003t0003a0001c0008t0003a0001c0008t0022others(5): Show | a0001c0003t0003g0005 a0001c0003t0003g0084 a0001c0003t0003g0085 others(14): Show |
29 | 92 | 0.3152 | 6 | c.*39 others(17): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2674 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75234160 | G | GACACAC | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01255.hp1 others(16): Show |
a0001a0002a0014others(1): Show | a0001c0003a0002c0002a0002c0004others(2): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0015others(4): Show | a0001c0003t0003g0005 a0002c0002t0001g0007 a0002c0002t0001g0019 others(11): Show |
19 | 281 | 0.0676 | 6 | c.201 others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp2 others(8): Show |
a0001a0015 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0002g0098 a0001c0001t0002g0139 a0001c0001t0002g0141 others(8): Show |
11 | 30 | 0.3667 | 6 | c.13- others(21): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93593728 | A | AAACAAC | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02148.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(14): Show |
17 | 151 | 0.1126 | 6 | c.358 others(23): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93660053 | C | CGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0086 a0001c0002t0001g0001 a0001c0002t0001g0036 others(4): Show |
8 | 145 | 0.0552 | 6 | c.317 others(25): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93675925 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01516.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0005g0040 others(8): Show |
13 | 91 | 0.1429 | 6 | c.-11 others(21): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53946505 | G | GTATATA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0002others(11): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0015others(20): Show | a0001c0001t0005g0020 a0001c0001t0012g0026 a0001c0001t0015g0316 others(57): Show |
61 | 204 | 0.2990 | 6 | c.181 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53954294 | G | GGAGAGA | intron_variant | MODIFIER | HG01069.hp2 HG03041.hp2 HG03139.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0008a0004c0004t0001a0004c0004t0003 | a0001c0001t0008g0074 a0001c0001t0008g0226 a0001c0001t0008g0229 others(3): Show |
6 | 32 | 0.1875 | 6 | c.155 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53994888 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01069.hp2 others(45): Show |
a0003a0004a0009others(11): Show | a0003c0003a0004c0004a0009c0009others(11): Show | a0003c0003t0022a0004c0004t0002a0004c0004t0003others(18): Show | a0003c0003t0022g0239 a0004c0004t0002g0286 a0004c0004t0003g0079 others(45): Show |
48 | 206 | 0.2330 | 6 | c.927 others(21): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54044837 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(85): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0007a0001c0034others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(43): Show | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0254 others(83): Show |
88 | 337 | 0.2611 | 6 | c.142 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54051726 | T | TTTGTTG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(57): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0003others(14): Show | a0001c0001t0005a0002c0002t0002a0003c0003t0001others(27): Show | a0001c0001t0005g0020 a0002c0002t0002g0211 a0002c0002t0002g0215 others(55): Show |
60 | 211 | 0.2844 | 6 | c.142 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114576247 | C | CTCTCTA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0190 a0001c0001t0003g0025 a0001c0001t0003g0097 others(1): Show |
6 | 231 | 0.0260 | 6 | c.257 others(21): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114576431 | T | TTTATTA | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0178 a0001c0001t0001g0179 |
5 | 296 | 0.0169 | 6 | c.257 others(21): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114583493 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0002g0036 a0001c0001t0002g0102 others(7): Show |
11 | 344 | 0.0320 | 6 | c.-19 others(17): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 1879 | chr1 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60690921 | A | AAAAAAC | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 others(12): Show |
15 | 74 | 0.2027 | 6 | c.214 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60754565 | A | AACTCAT | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(9): Show | a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 others(32): Show |
35 | 74 | 0.4730 | 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 | 60757392 | A | ATGTGTG | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 others(2): Show |
5 | 74 | 0.0676 | 6 | c.403 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60757394 | A | ATGTGTG | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp2 HG02897.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 others(10): Show |
13 | 36 | 0.3611 | 6 | c.403 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60761430 | T | TCAATTC | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01256.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(13): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(55): Show |
58 | 74 | 0.7838 | 6 | c.403 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60782561 | G | GTTATTA | intron_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0067 others(9): Show |
12 | 28 | 0.4286 | 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 | 60802371 | C | CATATAT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(13): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(2): Show | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 others(13): Show |
16 | 48 | 0.3333 | 6 | c.404 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60814300 | T | TGCGCGC | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0002c0005t0001 | a0001c0002t0001g0071 a0001c0002t0002g0064 a0002c0005t0001g0051 |
3 | 62 | 0.0484 | 6 | c.476 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |