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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01978.hp1 NA19001.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0034 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0217 a0001c0001t0003g0278 a0001c0003t0001g0178 others(1): Show |
4 | 14 | 0.2857 | 20 | c.109 others(41): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100098919 | C | CAGATAGA others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0019 | a0019c0016 | a0019c0016t0001 | a0019c0016t0001g0055 | 1 | 122 | 0.0082 | 20 | c.339 others(35): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100098931 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01255.hp2 HG01361.hp1 others(10): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0042 a0003c0002t0001g0043 a0003c0002t0001g0045 others(10): Show |
13 | 181 | 0.0718 | 20 | c.339 others(35): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 32 | 0.0313 | 20 | c.45- others(37): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140717 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 185 | 0.0054 | 20 | c.44+ others(35): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0037 | 1 | 102 | 0.0098 | 20 | c.44+ others(35): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRA_chr7_43753680_43812342 | 43758344 | C | CGGGGCCA others(13): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 389 | 0.0026 | 20 | c.-41 others(29): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 335 | chr7 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40460245 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19066.hp2 NA19077.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0081 a0001c0002t0001g0173 a0001c0002t0001g0174 others(2): Show |
5 | 324 | 0.0154 | 20 | c.80- others(35): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40460269 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0142 |
6 | 357 | 0.0168 | 20 | c.80- others(35): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13314229 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0054 others(3): Show |
6 | 86 | 0.0698 | 20 | c.-19 others(39): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TTGTGTTT others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | 17 | 0.1176 | 20 | c.-18 others(37): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13339430 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03098.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0213 a0001c0001t0001g0296 |
3 | 133 | 0.0226 | 20 | c.-13 others(41): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01981.hp2 HG02015.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 others(6): Show |
9 | 25 | 0.3600 | 20 | c.32- others(35): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360815 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0194 | 1 | 308 | 0.0032 | 20 | c.32- others(35): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360822 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0115 |
2 | 308 | 0.0065 | 20 | c.32- others(35): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360825 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 308 | 0.0032 | 20 | c.32- others(35): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCGCGCGC others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0024 | 1 | 9 | 0.1111 | 20 | c.177 others(37): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0208 a0001c0001t0001g0231 others(5): Show |
8 | 22 | 0.3636 | 20 | c.106 others(37): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15480023 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | 288 | 0.0139 | 20 | c.107 others(39): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG01109.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0159 a0001c0001t0001g0190 a0001c0001t0001g0220 others(23): Show |
27 | 83 | 0.3253 | 20 | c.-5- others(33): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG03834.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(5): Show |
8 | 54 | 0.1481 | 20 | c.148 others(35): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG03834.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(5): Show |
8 | 55 | 0.1455 | 20 | c.148 others(35): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210468 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 265 | 0.0038 | 20 | c.282 others(37): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210468 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 265 | 0.0038 | 20 | c.282 others(37): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78772054 | G | GACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 HG03209.hp1 NA19005.hp2 others(1): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0026 | a0001c0001t0011a0002c0002t0002a0008c0026t0026 | a0001c0001t0011g0042 a0001c0001t0011g0043 a0002c0002t0002g0162 others(1): Show |
4 | 161 | 0.0248 | 20 | c.-44 others(31): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 4295 | chr4 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78775656 | G | GAGCGGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02965.hp2 HG03579.hp2 |
a0005 | a0005c0004 | a0005c0004t0001a0005c0004t0013 | a0005c0004t0001g0099 a0005c0004t0013g0107 a0005c0004t0013g0108 |
3 | 202 | 0.0149 | 20 | c.-88 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 693 | chr4 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78829753 | A | ATCTTTTC others(13): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0095 | 1 | 179 | 0.0056 | 20 | c.297 others(37): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTTTT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18966.hp1 |
a0004a0008 | a0004c0003a0008c0026 | a0004c0003t0001a0008c0026t0026 | a0004c0003t0001g0064 a0008c0026t0026g0109 |
2 | 116 | 0.0172 | 20 | c.297 others(37): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTTTT others(13): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 115 | 0.0087 | 20 | c.297 others(37): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTTTT others(13): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0105 | 1 | 115 | 0.0087 | 20 | c.297 others(37): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55759144 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0283 | 1 | 76 | 0.0132 | 20 | c.110 others(35): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55837369 | A | AGATAGAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03130.hp1 HG03139.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0002t0001g0083 others(5): Show |
8 | 246 | 0.0325 | 20 | c.491 others(39): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55853138 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 21 | 0.0476 | 20 | c.490 others(39): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7813086 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0271 | 1 | 228 | 0.0044 | 20 | c.665 others(39): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 97 | 0.0103 | 20 | c.665 others(39): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0003a0001c0018t0003 | a0001c0001t0003g0136 a0001c0018t0003g0224 |
2 | 98 | 0.0204 | 20 | c.665 others(39): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01258.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0032others(2): Show | a0001c0001t0002g0177 a0001c0002t0002g0184 a0001c0002t0032g0109 others(3): Show |
6 | 102 | 0.0588 | 20 | c.665 others(39): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG04184.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0031 | a0001c0001t0001g0172 a0001c0002t0002g0200 a0001c0002t0031g0091 |
3 | 99 | 0.0303 | 20 | c.665 others(39): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18960.hp2 |
a0002 | a0002c0004a0002c0008 | a0002c0004t0002a0002c0008t0001 | a0002c0004t0002g0249 a0002c0008t0001g0301 |
2 | 98 | 0.0204 | 20 | c.665 others(39): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7856595 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01993.hp2 HG02970.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0142 a0001c0002t0001g0082 a0002c0003t0001g0236 others(4): Show |
7 | 47 | 0.1489 | 20 | c.858 others(37): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57218427 | G | GGTAGCTG others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03688.hp2 |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0027 | a0001c0003t0015g0265 a0001c0003t0027g0266 |
2 | 270 | 0.0074 | 20 | c.611 others(37): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39511450 | G | GTGGAGCA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(55): Show |
a0003a0004a0010others(2): Show | a0003c0003a0004c0004a0010c0011others(2): Show | a0003c0003t0003a0003c0003t0013a0003c0003t0050others(13): Show | a0003c0003t0003g0001 a0003c0003t0003g0013 a0003c0003t0003g0022 others(42): Show |
58 | 360 | 0.1611 | 20 | c.524 others(33): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39531663 | A | ACGTCCGA others(13): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0005 | a0005c0006 | a0005c0006t0060 | a0005c0006t0060g0009 | 1 | 360 | 0.0028 | 20 | c.*58 others(31): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1795 | chr1 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33919923 | A | ATATCTAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG03195.hp2 HG04115.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0002t0008a0001c0003t0005others(1): Show | a0001c0001t0006g0009 a0001c0002t0008g0061 a0001c0003t0005g0153 others(1): Show |
4 | 55 | 0.0727 | 20 | c.219 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33919923 | A | ATATCTGT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0014 a0001c0001t0003g0018 a0001c0004t0001g0016 |
3 | 54 | 0.0556 | 20 | c.219 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024357 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0168 | 1 | 104 | 0.0096 | 20 | c.577 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34028601 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02897.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0001a0001c0007t0001 | a0001c0005t0001g0121 a0001c0007t0001g0025 |
2 | 43 | 0.0465 | 20 | c.577 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0029a0001c0002t0003a0001c0007t0014 | a0001c0001t0029g0175 a0001c0002t0003g0088 a0001c0007t0014g0114 |
3 | 46 | 0.0652 | 20 | c.174 others(41): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19240.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0011t0023 | a0001c0001t0003g0023 a0001c0001t0003g0030 a0001c0011t0023g0221 |
3 | 46 | 0.0652 | 20 | c.174 others(41): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129630 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01175.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0002g0073 a0001c0001t0003g0023 a0001c0001t0003g0030 others(12): Show |
15 | 21 | 0.7143 | 20 | c.174 others(41): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |