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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLOC1S5_chr6_8008567_8069389 | 8047160 | TCACACA | T | intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(10): Show |
13 | 364 | 0.0357 | -6 | c.196 others(23): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S6_chr15_45582379_45614708 | 45593386 | GAAAAAA | G | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01169.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(5): Show | a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0030 others(19): Show |
41 | 362 | 0.1133 | -6 | c.224 others(23): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122180039 | CACACAT | C | intron_variant | MODIFIER | HG02622.hp1 HG03579.hp1 NA19002.hp1 |
a0001a0003 | a0001c0002a0001c0007a0003c0006 | a0001c0002t0001a0001c0007t0001a0003c0006t0001 | a0001c0002t0001g0055 a0001c0007t0001g0241 a0003c0006t0001g0042 |
3 | 336 | 0.0089 | -6 | c.358 others(23): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 6/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122201191 | GTTTTAC | G | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02055.hp2 others(14): Show |
a0003a0008 | a0003c0006a0008c0011 | a0003c0006t0001a0008c0011t0001a0008c0011t0007 | a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 others(14): Show |
17 | 336 | 0.0506 | -6 | c.149 others(21): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 15/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122228700 | TTGTGTG | T | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 others(2): Show |
6 | 336 | 0.0179 | -6 | c.292 others(23): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 24/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122236876 | AACCCCT | A | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0156 a0001c0001t0001g0322 a0001c0001t0001g0323 others(10): Show |
13 | 336 | 0.0387 | -6 | c.357 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 27/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122290812 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp1 HG02622.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0007t0001g0238 others(6): Show |
9 | 336 | 0.0268 | -6 | c.938 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122327242 | CCCCATG | C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00733.hp1 others(34): Show |
a0001a0007a0012 | a0001c0001a0001c0017a0001c0037others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0017t0001others(3): Show | a0001c0001t0001g0156 a0001c0001t0001g0296 a0001c0001t0001g0298 others(34): Show |
37 | 336 | 0.1101 | -6 | c.112 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 67/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100048771 | AGTGTGT | A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02572.hp1 others(7): Show |
a0002a0021 | a0002c0003a0021c0026 | a0002c0003t0001a0021c0026t0001 | a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 others(7): Show |
10 | 188 | 0.0532 | -6 | c.371 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100084378 | TCACACA | T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00738.hp1 others(13): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0009a0005c0006others(2): Show | a0001c0001t0001a0001c0009t0001a0005c0006t0001others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0073 others(13): Show |
16 | 188 | 0.0851 | -6 | c.128 others(21): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 10/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100104884 | CAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01167.hp2 others(8): Show |
a0001a0004a0013others(1): Show | a0001c0004a0004c0005a0013c0024others(1): Show | a0001c0004t0001a0004c0005t0001a0013c0024t0001others(1): Show | a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0042 others(8): Show |
11 | 188 | 0.0585 | -6 | c.208 others(21): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100107332 | TATAATA | T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG02818.hp2 others(2): Show |
a0007a0013 | a0007c0008a0013c0024 | a0007c0008t0001a0013c0024t0001 | a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 others(2): Show |
5 | 188 | 0.0266 | -6 | c.207 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100109159 | CCTCTCT | C | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp1 HG01928.hp1 others(12): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0073 others(12): Show |
15 | 188 | 0.0798 | -6 | c.45- others(19): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130976 | AGGGAGG | A | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02717.hp2 others(7): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0003a0011c0021others(1): Show | a0001c0001t0001a0002c0003t0001a0011c0021t0001others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 others(7): Show |
10 | 188 | 0.0532 | -6 | c.44+ others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | GGAGAGA | G | intron_variant | MODIFIER | HG02015.hp1 HG02523.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0084 others(4): Show |
7 | 188 | 0.0372 | -6 | c.44+ others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100138866 | TACACAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02280.hp2 others(17): Show |
a0002a0016a0021 | a0002c0003a0002c0010a0016c0022others(1): Show | a0002c0003t0001a0002c0010t0001a0016c0022t0001others(1): Show | a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 others(17): Show |
20 | 188 | 0.1064 | -6 | c.44+ others(21): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRA_chr7_43753680_43812342 | 43759988 | ATTTTTT | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00741.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0044 others(15): Show |
20 | 414 | 0.0483 | -6 | c.-22 others(23): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40459327 | CAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0077 a0001c0001t0001g0101 others(8): Show |
14 | 362 | 0.0387 | -6 | c.80- others(19): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40460247 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01099.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 others(51): Show |
54 | 362 | 0.1492 | -6 | c.80- others(21): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169375393 | CATATAT | C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00621.hp2 others(59): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0008others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0055 others(18): Show |
62 | 366 | 0.1694 | -6 | c.29- others(21): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284077 | GGTGTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0134 a0001c0001t0001g0135 others(3): Show |
6 | 314 | 0.0191 | -6 | c.-26 others(25): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284162 | GTGTATA | G | intron_variant | MODIFIER | HG00639.hp1 HG02280.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0295 a0001c0001t0001g0296 others(2): Show |
5 | 314 | 0.0159 | -6 | c.-26 others(25): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13290559 | ATATTAT | A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0183 others(7): Show |
11 | 314 | 0.0350 | -6 | c.-26 others(27): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13363127 | CATATAT | C | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG00735.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0071 others(21): Show |
24 | 314 | 0.0764 | -6 | c.460 others(23): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13365282 | AACACAC | A | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0295 others(2): Show |
5 | 314 | 0.0159 | -6 | c.460 others(21): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27381014 | ATTAAGT | A | intron_variant | MODIFIER | HG00642.hp2 NA18612.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0073 a0001c0001t0003g0128 a0001c0001t0003g0146 others(2): Show |
5 | 310 | 0.0161 | -6 | c.484 others(21): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | GCACACA | G | intron_variant | MODIFIER | HG00741.hp1 HG02630.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027 | a0001c0001t0005g0165 a0001c0001t0005g0222 a0001c0001t0005g0242 others(6): Show |
9 | 310 | 0.0290 | -6 | c.177 others(23): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15496188 | GTGGTGA | G | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0010g0025 |
3 | 291 | 0.0103 | -6 | c.107 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15512012 | CAAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG01975.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0117 a0001c0001t0001g0255 a0001c0001t0003g0165 others(15): Show |
18 | 291 | 0.0619 | -6 | c.107 others(23): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15522431 | CCACACA | C | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | 291 | 0.0206 | -6 | c.230 others(23): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15534286 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0140 a0001c0001t0001g0240 a0001c0001t0001g0244 others(31): Show |
34 | 291 | 0.1168 | -6 | c.230 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15580678 | GCTGGGA | G | intron_variant | MODIFIER | HG01496.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0116 a0001c0004t0010g0118 a0001c0004t0010g0120 |
3 | 291 | 0.0103 | -6 | c.305 others(21): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40083334 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01109.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0092 a0001c0001t0002g0033 a0001c0001t0002g0046 others(13): Show |
18 | 414 | 0.0435 | -6 | c.*84 others(17): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40107533 | AGTGTGT | A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0133 a0001c0001t0001g0347 a0001c0001t0003g0068 others(6): Show |
9 | 414 | 0.0217 | -6 | c.-6+ others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP10_chr2_68855909_68876397 | 68874336 | ATCCTTC | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0035 | a0001c0002t0005g0006 a0001c0002t0005g0039 a0001c0002t0006g0007 others(1): Show |
34 | 416 | 0.0817 | -6 | c.-29 others(17): Show |
BMP10 | ENSG00000163217.2 | transcript | ENST00000295379.2 | protein_coding | 2940 | chr2 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22183591 | AATTATT | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0109 a0001c0001t0001g0203 a0001c0001t0001g0218 others(4): Show |
7 | 418 | 0.0168 | -6 | c.107 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22183591 | AATTATT | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0190 a0001c0001t0001g0347 a0001c0002t0001g0332 others(4): Show |
7 | 408 | 0.0172 | -6 | c.107 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78786405 | ATGTGTG | A | intron_variant | MODIFIER | HG02165.hp2 HG02622.hp2 HG02698.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0003a0005c0004t0013 | a0001c0001t0001g0050 a0001c0001t0003g0014 a0005c0004t0013g0107 others(1): Show |
4 | 204 | 0.0196 | -6 | c.178 others(23): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78801344 | CTGTGTG | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 NA18522.hp1 |
a0001a0008 | a0001c0017a0008c0014 | a0001c0017t0011a0008c0014t0023a0008c0014t0024 | a0001c0017t0011g0042 a0008c0014t0023g0111 a0008c0014t0024g0110 |
3 | 204 | 0.0147 | -6 | c.178 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78873658 | CTGTGTG | C | intron_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG01952.hp1 others(9): Show |
a0001a0014 | a0001c0001a0001c0018a0014c0016 | a0001c0001t0003a0001c0001t0017a0001c0001t0018others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0011 others(9): Show |
12 | 204 | 0.0588 | -6 | c.179 others(23): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55751778 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02809.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 others(13): Show |
16 | 320 | 0.0500 | -6 | c.*37 others(17): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1874 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55759144 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0159 a0001c0001t0001g0168 others(37): Show |
41 | 320 | 0.1281 | -6 | c.110 others(21): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55759178 | AAAAAAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0192 a0001c0002t0001g0067 a0001c0002t0001g0135 others(5): Show |
8 | 320 | 0.0250 | -6 | c.110 others(21): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55773495 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(132): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 others(131): Show |
135 | 320 | 0.4219 | -6 | c.102 others(23): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55780472 | AAGAAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02647.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(1): Show | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0050 others(8): Show |
11 | 320 | 0.0344 | -6 | c.833 others(23): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7800079 | GGTGTGT | G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02109.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0044 a0001c0001t0001g0130 a0001c0001t0001g0132 others(25): Show |
28 | 308 | 0.0909 | -6 | c.665 others(25): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7822897 | TTGTGTG | T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02965.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0012a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0012t0018others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0219 a0001c0001t0001g0222 others(7): Show |
10 | 308 | 0.0325 | -6 | c.665 others(25): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7856120 | TAAAAAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0013g0054 a0001c0001t0015g0131 a0001c0001t0015g0201 others(3): Show |
6 | 308 | 0.0195 | -6 | c.858 others(23): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57176750 | TCACACA | T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036 a0001c0001t0002g0037 a0001c0001t0002g0089 |
3 | 272 | 0.0110 | -6 | c.959 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 4/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57192058 | ATATATT | A | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01167.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0109 others(9): Show |
12 | 272 | 0.0441 | -6 | c.761 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar |