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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEX5_chrX_102148712_102160977 | 102158138 | CTTCTTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
2 | 313 | 0.0064 | -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 | a0001c0001t0001g0021 | 1 | 301 | 0.0033 | -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 | 295 | 0.0034 | -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 | 30 | 0.0333 | -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(120): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 others(120): Show |
123 | 124 | 0.9919 | -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 | a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0107 others(17): Show |
20 | 38 | 0.5263 | -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 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0002a0007c0009t0030 | a0001c0001t0002g0011 a0001c0001t0002g0013 a0007c0009t0030g0012 |
3 | 119 | 0.0252 | -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 | a0001c0001t0006g0166 a0001c0002t0005g0165 a0001c0002t0007g0164 |
3 | 287 | 0.0105 | -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 | a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0001t0006g0159 others(4): Show |
7 | 287 | 0.0244 | -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 | a0001c0001t0004g0151 a0001c0001t0006g0154 a0001c0001t0006g0155 others(6): Show |
9 | 282 | 0.0319 | -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 | a0001c0001t0001g0233 a0001c0001t0017g0015 a0001c0002t0003g0024 |
3 | 9 | 0.3333 | -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 | a0001c0001t0001g0025 a0001c0001t0001g0083 a0001c0001t0001g0351 others(1): Show |
4 | 360 | 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 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 384 | 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 | a0001c0001t0001g0035 a0001c0001t0001g0338 a0001c0001t0001g0347 |
4 | 211 | 0.0190 | -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 | a0001c0001t0002g0253 | 1 | 62 | 0.0161 | -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 | a0001c0001t0002g0038 a0001c0001t0002g0256 |
3 | 335 | 0.0090 | -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 | a0001c0001t0003g0038 | 1 | 68 | 0.0147 | -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 | a0001c0003t0001a0003c0017t0001 | a0001c0003t0001g0123 a0003c0017t0001g0128 a0003c0017t0001g0129 |
3 | 259 | 0.0116 | -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 | a0003c0017t0001 | a0003c0017t0001g0127 | 1 | 256 | 0.0039 | -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 | a0002c0027t0001 | a0002c0027t0001g0083 | 1 | 190 | 0.0053 | -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 | a0001c0001t0001g0022 a0001c0001t0001g0178 a0001c0001t0001g0218 others(9): Show |
12 | 250 | 0.0480 | -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 | a0001c0001t0001g0007 | 1 | 312 | 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 | 312 | 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 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0149 others(1): Show |
4 | 300 | 0.0133 | -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 | 416 | 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 | 406 | 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 | a0002c0002t0002g0153 a0002c0002t0002g0178 |
2 | 201 | 0.0100 | -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 | a0002c0002t0002g0196 | 1 | 163 | 0.0061 | -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 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0206 others(6): Show |
9 | 29 | 0.3103 | -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(24): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0198 a0001c0002t0001g0048 a0001c0002t0001g0134 others(24): Show |
27 | 50 | 0.5400 | -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 | 230 | 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 | a0001c0002t0006g0025 a0001c0002t0006g0126 a0001c0002t0006g0127 others(11): Show |
14 | 265 | 0.0528 | -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 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0189 a0001c0001t0005g0110 a0001c0001t0007g0191 others(1): Show |
4 | 7 | 0.5714 | -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 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show |
6 | 214 | 0.0280 | -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 | a0001c0002t0055g0099 | 1 | 10 | 0.1000 | -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 |
a0001a0009 | a0001c0001a0001c0016a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0060 a0001c0001t0003g0016 a0001c0001t0003g0063 others(11): Show |
14 | 174 | 0.0805 | -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 | a0001c0007t0053a0001c0011t0081 | a0001c0007t0053g0176 a0001c0011t0081g0020 |
2 | 130 | 0.0154 | -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 | a0001c0001t0001g0016 | 1 | 347 | 0.0029 | -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 | a0001c0001t0001g0012 a0001c0001t0001g0068 |
2 | 208 | 0.0096 | -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 | a0001c0001t0002g0027 | 1 | 42 | 0.0238 | -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 | 253 | 0.0040 | -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 |
a0001a0006a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0062 a0001c0001t0001g0070 others(56): Show |
60 | 370 | 0.1622 | -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 | a0001c0001t0001g0193 | 1 | 182 | 0.0055 | -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 | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0365 others(1): Show |
4 | 361 | 0.0111 | -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 | a0001c0001t0001g0062 a0001c0001t0001g0253 |
2 | 356 | 0.0056 | -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 | a0001c0001t0001g0032 a0001c0002t0001g0053 |
2 | 314 | 0.0064 | -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 | a0001c0001t0001g0160 a0001c0002t0001g0173 |
2 | 236 | 0.0085 | -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 | a0001c0001t0001g0118 a0001c0001t0001g0234 |
2 | 374 | 0.0053 | -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 | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(3): Show |
6 | 382 | 0.0157 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281384 | CCTCAGTT others(23): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 348 | 0.0029 | -30 | c.310 others(47): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar |