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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEX2_chrX_103304346_103315990 | 103309252 | GTATATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01496.hp1 NA18982.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 155 | 0.0645 | -12 | c.*32 others(21): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 93 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | CATATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 23 | 0.0435 | -12 | c.*31 others(21): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158102 | TTTCTTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 302 | 0.0033 | -12 | c.-23 others(23): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2126 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158144 | CTTCTTCT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02698.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 others(2): Show |
6 | 292 | 0.0205 | -12 | c.-24 others(23): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2168 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158147 | CTTCTTCT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03654.hp1 HG03927.hp2 NA18941.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
8 | 302 | 0.0265 | -12 | c.-24 others(23): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2171 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158150 | CTTCTTAT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02056.hp1 HG03453.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
10 | 294 | 0.0340 | -12 | c.-24 others(23): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2174 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158153 | CTTATTAT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01070.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
32 | 214 | 0.1495 | -12 | c.-24 others(23): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2177 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17497570 | ATGTATAT others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0369 | 1 | 394 | 0.0025 | -12 | c.957 others(27): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17497572 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0017 | a0001c0003t0003a0001c0004t0002a0001c0017t0001 | a0001c0003t0003g0331 a0001c0004t0002g0037 a0001c0004t0002g0038 others(3): Show |
6 | 394 | 0.0152 | -12 | c.957 others(27): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17497605 | TACGTATA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01071.hp2 others(64): Show |
a0001a0004a0005others(2): Show | a0001c0003a0001c0015a0004c0010others(3): Show | a0001c0003t0001a0001c0015t0001a0004c0010t0001others(3): Show | a0001c0003t0001g0005 a0001c0003t0001g0035 a0001c0003t0001g0043 others(63): Show |
67 | 394 | 0.1701 | -12 | c.957 others(27): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17504905 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(7): Show |
a0001a0006 | a0001c0003a0001c0005a0006c0021 | a0001c0003t0002a0001c0005t0004a0006c0021t0004 | a0001c0003t0002g0138 a0001c0005t0004g0127 a0001c0005t0004g0137 others(7): Show |
10 | 392 | 0.0255 | -12 | c.735 others(29): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17504910 | TTTTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp1 others(63): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0002t0001g0044 a0001c0002t0001g0063 a0001c0002t0001g0064 others(60): Show |
66 | 300 | 0.2200 | -12 | c.735 others(29): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133415676 | TCCCCTCT others(5): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01175.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0070 others(18): Show |
21 | 274 | 0.0766 | -12 | c.489 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133417592 | CCCTCTAC others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG02818.hp1 others(12): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(12): Show |
15 | 274 | 0.0547 | -12 | c.489 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133424212 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(46): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(45): Show |
49 | 260 | 0.1885 | -12 | c.490 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03704.hp2 NA18946.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0209 others(5): Show |
8 | 37 | 0.2162 | -12 | c.490 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449982 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0181 others(2): Show |
5 | 72 | 0.0694 | -12 | c.730 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153509051 | CTCTCTCT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0007a0001c0002t0005others(4): Show | a0001c0001t0005g0008 a0001c0001t0007g0048 a0001c0002t0005g0002 others(14): Show |
29 | 300 | 0.0967 | -12 | c.*60 others(21): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 608 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509057 | CTTTCTGT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0076 | 1 | 283 | 0.0035 | -12 | c.*61 others(21): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 614 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153512760 | ACTCACAC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(53): Show |
78 | 319 | 0.2445 | -12 | c.*43 others(23): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3215 | chrX | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1274612 | ATTTTCTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 NA20805.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 2 | 440 | 0.0045 | -12 | c.*33 others(23): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 2798 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275837 | TATGAGAG others(5): Show |
T | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 440 | 0.0023 | -12 | c.*45 others(23): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4023 | chr17 | TogoVar | |||||||
BHLHE22_chr8_64575365_64588627 | 64581463 | GGCAGCAG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG01928.hp2 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0000 | 1 | 388 | 0.0026 | -12 | c.692 others(19): Show |
p.Ser others(13): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 1118/3263 | 692/1146 | 231/381 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
BHLHE40_chr3_4974437_4990323 | 4981183 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 434 | 0.0023 | -12 | c.259 others(27): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHE40_chr3_4974437_4990323 | 4981185 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(103): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(15): Show |
106 | 119 | 0.8908 | -12 | c.259 others(27): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79077726 | AGATTGCC others(5): Show |
A | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0003a0006c0007t0001 | a0001c0001t0003g0203 a0006c0007t0001g0204 |
2 | 388 | 0.0052 | -12 | c.166 others(27): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79123535 | GGTTGGTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(274): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(215): Show |
277 | 430 | 0.6442 | -12 | c.625 others(29): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79137116 | TACGAATA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02970.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0172 a0001c0001t0001g0173 others(1): Show |
4 | 430 | 0.0093 | -12 | c.*60 others(23): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4829 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137174 | TATATACG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0044 others(15): Show |
28 | 430 | 0.0651 | -12 | c.*60 others(23): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4887 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137224 | CATATACG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 279 | 0.0036 | -12 | c.*61 others(23): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4937 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137238 | TATATACG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 280 | 0.0036 | -12 | c.*61 others(23): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4951 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137250 | CATATACG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 280 | 0.0036 | -12 | c.*61 others(23): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4963 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58521768 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0070 | 1 | 6 | 0.1667 | -12 | c.190 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58524311 | TACAGTAA others(5): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0079 | 1 | 130 | 0.0077 | -12 | c.190 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58584055 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 2 | 0.5000 | -12 | c.191 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58642666 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0032 | a0001c0001t0002g0001 a0003c0007t0032g0036 |
2 | 3 | 0.6667 | -12 | c.237 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0042 | 1 | 19 | 0.0526 | -12 | c.307 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58732379 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0023 | a0001c0001t0021g0035 a0001c0001t0023g0057 |
2 | 119 | 0.0168 | -12 | c.307 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58753151 | GTTGTTGT others(5): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0007 | a0003c0007t0032 | a0003c0007t0032g0036 | 1 | 130 | 0.0077 | -12 | c.308 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58756626 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03195.hp1 NA21309.hp1 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0027a0008c0010t0003 | a0001c0001t0027g0038 a0008c0010t0003g0065 |
2 | 18 | 0.1111 | -12 | c.308 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58758931 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0093 | 1 | 37 | 0.0270 | -12 | c.308 others(31): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58816745 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0060 | 1 | 8 | 0.1250 | -12 | c.253 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116480 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0001t0036others(2): Show | a0001c0001t0004g0149 a0001c0001t0017g0091 a0001c0001t0017g0093 others(3): Show |
6 | 288 | 0.0208 | -12 | c.213 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32120867 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0275 | 1 | 121 | 0.0083 | -12 | c.213 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32120885 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01346.hp1 HG01358.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 others(15): Show |
18 | 288 | 0.0625 | -12 | c.213 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32142420 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01192.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0004g0151 a0001c0001t0006g0150 a0001c0001t0006g0153 others(10): Show |
13 | 288 | 0.0451 | -12 | c.213 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32142453 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 131 | 0.0076 | -12 | c.213 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32171940 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00741.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0203 others(47): Show |
50 | 109 | 0.4587 | -12 | c.214 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32198323 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG03834.hp1 HG03927.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0013 | a0001c0001t0003g0061 a0001c0003t0013g0062 |
2 | 126 | 0.0159 | -12 | c.214 others(31): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32225619 | CTGTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 288 | 0.0035 | -12 | c.426 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |