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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEX5_chrX_102148712_102160977 | 102158135 | CTTCTTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 324 | 0.0031 | -30 | c.-24 others(41): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2159 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158138 | CTTCTTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 2 | 324 | 0.0062 | -30 | c.-24 others(41): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2162 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158141 | CTTCTTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 324 | 0.0031 | -30 | c.-24 others(41): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2165 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158147 | CTTCTTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 324 | 0.0031 | -30 | c.-24 others(41): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2171 | chrX | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 276 | 0.0036 | -30 | c.490 others(45): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58642666 | TTTATTAT others(23): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(121): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0075others(121): Show | 124 | 132 | 0.9394 | -30 | c.237 others(49): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(23): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01106.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0073a0001c0001t0001g0087a0001c0001t0001g0107others(17): Show | 20 | 132 | 0.1515 | -30 | c.307 others(49): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58732373 | GTGTATGT others(23): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 NA19240.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0005c0009t0031 | a0001c0001t0002g0011a0001c0001t0002g0013a0005c0009t0031g0012 | 3 | 132 | 0.0227 | -30 | c.307 others(49): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32116458 | GTCTGTCT others(23): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005a0001c0002t0007 | a0001c0001t0006g0152a0001c0002t0005g0151a0001c0002t0007g0150 | 3 | 290 | 0.0103 | -30 | c.213 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32116482 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0006g0153a0001c0001t0006g0155a0001c0001t0006g0156others(4): Show | 7 | 290 | 0.0241 | -30 | c.213 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32116484 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0004g0166a0001c0001t0006g0157a0001c0001t0006g0160others(6): Show | 9 | 290 | 0.0310 | -30 | c.213 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(23): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 NA18957.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0002t0003 | a0001c0001t0001g0233a0001c0001t0017g0015a0001c0002t0003g0024 | 3 | 270 | 0.0111 | -30 | c.184 others(49): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BID_chr22_17729138_17779469 | 17756458 | TCTTTCTT others(23): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02723.hp2 HG02965.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0082a0001c0001t0001g0355others(1): Show | 4 | 362 | 0.0111 | -30 | c.-58 others(47): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BIK_chr22_43105750_43134712 | 43129228 | GTGCTGCT others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG01975.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003 | 1 | 386 | 0.0026 | -30 | c.415 others(37): Show |
p.Ala others(13): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 5/5 | 476/951 | 415/483 | 139/160 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
BIN2_chr12_51276038_51329174 | 51295577 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0367a0001c0001t0001g0376 | 4 | 400 | 0.0100 | -30 | c.761 others(45): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342344 | GTATATAT others(23): Show |
G | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 344 | 0.0029 | -30 | c.-62 others(41): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364150 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03471.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0287 | 3 | 344 | 0.0087 | -30 | c.112 others(47): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102342344 | GTATATAT others(23): Show |
G | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 384 | 0.0026 | -30 | c.*52 others(41): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369941 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp2 HG03688.hp2 |
a0001a0003 | a0001c0003a0003c0017 | a0001c0003t0003a0003c0017t0003 | a0001c0003t0003g0134a0003c0017t0003g0135a0003c0017t0003g0136 | 3 | 274 | 0.0110 | -30 | c.326 others(47): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32369943 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0017 | a0003c0017t0003 | a0003c0017t0003g0123 | 1 | 274 | 0.0037 | -30 | c.326 others(47): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461043 | TTCTCTTC others(23): Show |
T | intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0027 | a0002c0027t0002 | a0002c0027t0002g0069 | 1 | 274 | 0.0037 | -30 | c.475 others(49): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284146 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG03239.hp2 HG03540.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0179a0001c0001t0001g0219others(9): Show | 12 | 314 | 0.0382 | -30 | c.-26 others(49): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284168 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 314 | 0.0032 | -30 | c.-26 others(49): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284204 | ATATATGT others(23): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 314 | 0.0032 | -30 | c.-26 others(49): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284212 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG02735.hp1 HG03486.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0150others(1): Show | 4 | 314 | 0.0127 | -30 | c.-26 others(49): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMP1_chr8_22160372_22206482 | 22164851 | GGCGGGGG others(23): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 418 | 0.0024 | -30 | c.-55 others(39): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 520 | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22164851 | GGCGGGGG others(23): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 408 | 0.0025 | -30 | c.-55 others(39): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 520 | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829772 | TTTCTTTT others(23): Show |
T | intron_variant | MODIFIER | HG04228.hp2 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0155a0002c0002t0002g0180 | 2 | 204 | 0.0098 | -30 | c.297 others(47): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829777 | TTTCTTTT others(23): Show |
T | intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 | 1 | 204 | 0.0049 | -30 | c.297 others(47): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP5_chr6_55748653_55880590 | 55853138 | TAAATAAA others(23): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02717.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(3): Show | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0001g0208others(6): Show | 9 | 320 | 0.0281 | -30 | c.490 others(49): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024384 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00673.hp2 others(25): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0198a0001c0002t0001g0048a0001c0002t0001g0134others(25): Show | 28 | 232 | 0.1207 | -30 | c.577 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34031905 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0105 | 1 | 232 | 0.0043 | -30 | c.577 others(49): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86751715 | GCACATAC others(23): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01109.hp1 others(11): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0006a0001c0002t0035a0001c0002t0061others(3): Show | a0001c0002t0006g0025a0001c0002t0006g0125a0001c0002t0006g0126others(11): Show | 14 | 278 | 0.0504 | -30 | c.-54 others(41): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 4903 | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95049419 | GTTTTTTT others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0001g0189a0001c0001t0005g0110a0001c0001t0011g0191others(1): Show | 4 | 226 | 0.0177 | -30 | c.-18 others(49): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMX_chrX_15495807_15561519 | 15498547 | TCTCTCTC others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(3): Show | 6 | 216 | 0.0278 | -30 | c.-24 others(41): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 2259 | chrX | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16412720 | GGAGAGAG others(23): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0100 | 1 | 176 | 0.0057 | -30 | c.*62 others(41): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 7/7 | 6239 | chr9 | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16498115 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02572.hp1 others(11): Show |
a0001a0012 | a0001c0001a0001c0016a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0060a0001c0001t0003g0016a0001c0001t0003g0063others(11): Show | 14 | 176 | 0.0796 | -30 | c.669 others(49): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16539750 | GAAGGAAA others(23): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03540.hp1 |
a0001 | a0001c0007a0001c0011 | a0001c0007t0052a0001c0011t0082 | a0001c0007t0052g0176a0001c0011t0082g0035 | 2 | 176 | 0.0114 | -30 | c.669 others(49): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173148079 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 352 | 0.0028 | -30 | c.177 others(47): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BNIP1_chr5_173139531_173169387 | 173148083 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0094 | 2 | 352 | 0.0057 | -30 | c.177 others(47): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 424 | 0.0024 | -30 | c.116 others(47): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
BOLA2B_chr16_30187932_30198666 | 30190212 | ATATATTT others(23): Show |
A | downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | -30 | c.*27 others(41): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2719 | chr16 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281016 | CGGCCTTC others(23): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00639.hp1 others(57): Show |
a0001a0005a0013others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0058a0001c0001t0001g0065others(56): Show | 60 | 398 | 0.1508 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281106 | CGGCCTTC others(23): Show |
C | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 398 | 0.0025 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281144 | TCTCAGTT others(23): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029a0001c0002t0001g0030a0001c0002t0001g0371others(1): Show | 4 | 398 | 0.0101 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281166 | CGGCCTTC others(23): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0254 | 2 | 398 | 0.0050 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281174 | CCTCACTT others(23): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027a0001c0002t0001g0048 | 2 | 398 | 0.0050 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281183 | CATACCAG others(23): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0160a0001c0002t0001g0173 | 2 | 398 | 0.0050 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281204 | TCTCAGTT others(23): Show |
T | intron_variant | MODIFIER | HG02080.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0240 | 2 | 398 | 0.0050 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281324 | TCTCAGTT others(23): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02155.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0080a0001c0001t0001g0103others(3): Show | 6 | 398 | 0.0151 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar |