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 | 8047142 | C | CCTCTCT | intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 a0001c0001t0004g0134 a0001c0001t0004g0135 others(2): Show |
5 | 364 | 0.0137 | 6 | c.196 others(23): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122151232 | T | TTAAGAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01361.hp2 HG01884.hp2 others(21): Show |
a0001a0003a0008others(1): Show | a0001c0007a0003c0006a0008c0011others(2): Show | a0001c0007t0001a0003c0006t0001a0008c0011t0001others(3): Show | a0001c0007t0001g0157 a0001c0007t0001g0244 a0001c0007t0001g0245 others(21): Show |
24 | 336 | 0.0714 | 6 | c.-14 others(17): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 1098 | chr4 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122154162 | C | CTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02615.hp2 others(3): Show |
a0003a0007a0008 | a0003c0006a0007c0012a0008c0011 | a0003c0006t0001a0007c0012t0001a0008c0011t0001 | a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 others(3): Show |
6 | 336 | 0.0179 | 6 | c.-34 others(19): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122200578 | C | CAAAACA | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0001 a0001c0005t0002g0006 |
3 | 336 | 0.0089 | 6 | c.138 others(23): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122200583 | C | CAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG01361.hp2 others(12): Show |
a0001a0003a0008 | a0001c0002a0001c0005a0001c0015others(4): Show | a0001c0002t0001a0001c0005t0001a0001c0015t0001others(5): Show | a0001c0002t0001g0030 a0001c0005t0001g0106 a0001c0005t0001g0173 others(12): Show |
15 | 336 | 0.0446 | 6 | c.138 others(23): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122205785 | T | TACACAC | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01106.hp2 others(32): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0005a0001c0019others(5): Show | a0001c0002t0001a0001c0002t0008a0001c0005t0001others(6): Show | a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 others(31): Show |
35 | 336 | 0.1042 | 6 | c.149 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 15/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122237981 | C | CAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG02280.hp2 HG02572.hp2 others(8): Show |
a0003a0008 | a0003c0006a0008c0011 | a0003c0006t0001a0008c0011t0001a0008c0011t0007 | a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 others(8): Show |
11 | 336 | 0.0327 | 6 | c.357 others(21): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 27/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122244188 | A | AAAAATG | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp2 others(9): Show |
a0003a0008 | a0003c0006a0008c0011 | a0003c0006t0001a0008c0011t0001a0008c0011t0007 | a0003c0006t0001g0012 a0003c0006t0001g0038 a0003c0006t0001g0040 others(9): Show |
12 | 336 | 0.0357 | 6 | c.491 others(23): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 31/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122262148 | T | TTGTGTG | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00741.hp1 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(11): Show | a0001c0001t0001g0183 a0001c0001t0001g0222 a0001c0001t0001g0250 others(47): Show |
50 | 336 | 0.1488 | 6 | c.676 others(23): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 42/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122290812 | T | TACACAC | intron_variant | MODIFIER | HG02074.hp1 HG02486.hp2 HG03130.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0184 others(5): Show |
8 | 336 | 0.0238 | 6 | c.938 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34792126 | T | TGGCGGC | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01106.hp2 others(5): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0009a0003c0003t0043a0004c0004t0044 | a0003c0003t0009g0101 a0003c0003t0009g0114 a0003c0003t0009g0117 others(5): Show |
8 | 312 | 0.0256 | 6 | c.-11 others(15): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/21 | 109 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(44): Show |
a0003a0005a0006others(4): Show | a0003c0003a0003c0023a0003c0029others(6): Show | a0003c0003t0003a0003c0003t0009a0003c0003t0011others(15): Show | a0003c0003t0003g0102 a0003c0003t0003g0104 a0003c0003t0003g0118 others(44): Show |
47 | 312 | 0.1506 | 6 | c.44+ others(21): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02145.hp2 others(5): Show |
a0003a0004a0006others(2): Show | a0003c0003a0004c0004a0006c0007others(2): Show | a0003c0003t0003a0003c0003t0012a0004c0004t0005others(4): Show | a0003c0003t0003g0164 a0003c0003t0012g0115 a0004c0004t0005g0026 others(5): Show |
8 | 312 | 0.0256 | 6 | c.45- others(23): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34869640 | C | CTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02615.hp2 others(8): Show |
a0004 | a0004c0004a0004c0015a0004c0025 | a0004c0004t0005a0004c0004t0018a0004c0004t0028others(4): Show | a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0017 others(8): Show |
11 | 312 | 0.0353 | 6 | c.371 others(25): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100048735 | G | GGGGAGA | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(14): Show |
a0003a0016 | a0003c0002a0016c0022 | a0003c0002t0001a0016c0022t0001 | a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 others(14): Show |
17 | 188 | 0.0904 | 6 | c.371 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100048771 | A | AGTGTGT | intron_variant | MODIFIER | HG00544.hp1 HG02258.hp1 NA18960.hp1 others(1): Show |
a0001a0012 | a0001c0001a0001c0004a0012c0028 | a0001c0001t0001a0001c0004t0001a0012c0028t0001 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0004t0001g0044 others(1): Show |
4 | 188 | 0.0213 | 6 | c.371 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100098993 | T | TTTATTA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00673.hp2 others(65): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0025others(14): Show | a0001c0001t0001a0001c0004t0001a0001c0025t0001others(14): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(65): Show |
68 | 188 | 0.3617 | 6 | c.339 others(21): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TTATATA | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01261.hp2 others(12): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0002a0005c0006others(1): Show | a0001c0001t0001a0003c0002t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0084 others(12): Show |
15 | 188 | 0.0798 | 6 | c.45- others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124974 | A | ATATATT | intron_variant | MODIFIER | HG01346.hp2 HG02809.hp2 HG03486.hp2 |
a0001a0014 | a0001c0001a0014c0020 | a0001c0001t0001a0014c0020t0001 | a0001c0001t0001g0101 a0001c0001t0001g0109 a0014c0020t0001g0006 |
3 | 188 | 0.0160 | 6 | c.45- others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130951 | T | TACATAC | intron_variant | MODIFIER | HG01167.hp2 HG02004.hp1 HG02015.hp2 others(10): Show |
a0002a0003a0007others(1): Show | a0002c0003a0003c0002a0007c0008others(1): Show | a0002c0003t0001a0003c0002t0001a0007c0008t0001others(1): Show | a0002c0003t0001g0032 a0003c0002t0001g0030 a0003c0002t0001g0031 others(10): Show |
13 | 188 | 0.0692 | 6 | c.44+ others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | G | GGAGAGA | intron_variant | MODIFIER | HG01934.hp1 HG01981.hp1 HG02056.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0135 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 | |||||||
BLVRB_chr19_40442768_40470745 | 40448603 | C | CAACAAT | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0151 others(11): Show |
14 | 362 | 0.0387 | 6 | c.464 others(21): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169375393 | C | CATATAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp2 others(27): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0001g0115 others(11): Show |
30 | 366 | 0.0820 | 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 | 13290559 | A | ATATTAT | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 |
3 | 314 | 0.0096 | 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 | 13290559 | A | ATGTTAT | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG01884.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 others(20): Show |
23 | 314 | 0.0733 | 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 | 13314229 | C | CCACACA | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01069.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(21): Show |
24 | 314 | 0.0764 | 6 | c.-19 others(25): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(74): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0040 others(73): Show |
77 | 314 | 0.2452 | 6 | c.-18 others(23): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13339430 | T | TACACAC | intron_variant | MODIFIER | HG02572.hp2 HG02683.hp2 HG02809.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0097 others(7): Show |
10 | 314 | 0.0319 | 6 | c.-13 others(27): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13365282 | A | AACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(33): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0062 others(33): Show |
36 | 314 | 0.1147 | 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 | 27360803 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01433.hp1 HG01433.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0043 others(15): Show |
18 | 310 | 0.0581 | 6 | c.32- others(21): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCACACA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00609.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0038 others(37): Show |
41 | 310 | 0.1323 | 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 | 15512012 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0107 others(49): Show |
52 | 291 | 0.1787 | 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 | 15519074 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01074.hp2 others(72): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0044 others(72): Show |
75 | 291 | 0.2577 | 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 | 15580203 | C | CTTGGCT | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0255 a0001c0001t0005g0005 a0001c0001t0005g0011 others(15): Show |
18 | 291 | 0.0619 | 6 | c.305 others(23): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3/5 | chr16 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15591594 | A | AAAACAC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0114 a0001c0001t0006g0160 a0001c0001t0006g0161 others(3): Show |
6 | 291 | 0.0206 | 6 | c.*47 others(17): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15591594 | A | AACACAC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0055 others(28): Show |
31 | 291 | 0.1065 | 6 | c.*47 others(17): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40083334 | A | AGTGTGT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0314 others(17): Show |
20 | 414 | 0.0483 | 6 | c.*84 others(17): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACAC | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0133 a0001c0001t0001g0348 a0001c0001t0002g0155 others(4): Show |
7 | 414 | 0.0169 | 6 | c.-5- others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40107533 | A | AGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0140 others(48): Show |
58 | 414 | 0.1401 | 6 | c.-6+ others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40108219 | A | AACACAC | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02145.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0001g0103 others(19): Show |
25 | 414 | 0.0604 | 6 | c.-6+ others(17): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00597.hp1 others(50): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(46): Show |
53 | 418 | 0.1268 | 6 | c.148 others(21): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22183591 | A | AATTATT | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG02055.hp1 others(32): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0194 a0001c0001t0001g0219 others(32): Show |
35 | 418 | 0.0837 | 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_22206482 | 22189433 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(50): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0024 others(49): Show |
53 | 418 | 0.1268 | 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 | 22165882 | C | CGTGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00597.hp1 others(53): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0182 a0001c0001t0001g0185 others(51): Show |
56 | 408 | 0.1373 | 6 | c.148 others(21): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22183591 | A | AATTATT | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG02055.hp1 others(31): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0207 a0001c0001t0001g0371 a0001c0002t0001g0041 others(31): Show |
34 | 408 | 0.0833 | 6 | c.107 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22189433 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 others(48): Show |
51 | 408 | 0.1250 | 6 | c.107 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22214508 | C | CCCCCCA | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02280.hp1 HG02280.hp2 others(9): Show |
a0001a0003 | a0001c0003a0001c0007a0003c0011 | a0001c0003t0001a0001c0003t0003a0001c0007t0001others(1): Show | a0001c0003t0001g0280 a0001c0003t0001g0293 a0001c0003t0001g0294 others(9): Show |
12 | 408 | 0.0294 | 6 | c.*27 others(17): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 2183 | chr8 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78786405 | A | ATGTGTG | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02280.hp1 others(4): Show |
a0001a0008a0013 | a0001c0001a0001c0006a0008c0014others(2): Show | a0001c0001t0006a0001c0006t0004a0008c0014t0024others(2): Show | a0001c0001t0006g0034 a0001c0006t0004g0142 a0001c0006t0004g0143 others(4): Show |
7 | 204 | 0.0343 | 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 | 78829753 | A | ATCCTTT | intron_variant | MODIFIER | HG01891.hp1 HG03139.hp2 HG03471.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0021 a0003c0005t0008g0130 a0003c0005t0008g0132 others(1): Show |
4 | 204 | 0.0196 | 6 | c.297 others(23): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78874175 | T | TCACACA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02615.hp2 others(6): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0004a0002c0002t0002 | a0001c0006t0004g0045 a0001c0006t0004g0141 a0001c0006t0004g0142 others(6): Show |
9 | 204 | 0.0441 | 6 | c.179 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |