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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICRAL_chr6_42777052_42873556 | 42793296 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00621.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 others(42): Show |
45 | 79 | 0.5696 | 9 | c.-10 others(30): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42825828 | A | ACCTGTAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(154): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(154): Show |
157 | 268 | 0.5858 | 9 | c.160 others(26): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47661213 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00733.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(11): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0006others(12): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(36): Show |
39 | 117 | 0.3333 | 9 | c.-10 others(28): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22625098 | T | TCCTACTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00733.hp2 others(53): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0201 others(49): Show |
56 | 384 | 0.1458 | 9 | c.339 others(24): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 6/8 | chr8 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32431181 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02145.hp1 HG03098.hp2 others(4): Show |
a0001a0006a0013 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(3): Show | a0001c0001t0001g0212 a0001c0003t0001g0036 a0001c0003t0001g0124 others(4): Show |
7 | 38 | 0.1842 | 9 | c.324 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32440751 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0001c0037a0002c0035 | a0001c0001t0001a0001c0037t0001a0002c0035t0008 | a0001c0001t0001g0190 a0001c0037t0001g0039 a0002c0035t0008g0105 |
3 | 236 | 0.0127 | 9 | c.381 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 16/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102797565 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0095 a0001c0001t0002g0126 a0001c0001t0004g0049 others(27): Show |
36 | 398 | 0.0905 | 9 | c.-21 others(20): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 1553 | chr13 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11533582 | C | CGGAGGAG others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00738.hp2 others(28): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0262 others(25): Show |
31 | 251 | 0.1235 | 9 | c.-1- others(24): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30291954 | T | TCGGCGGC others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG03139.hp1 NA21309.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0024 a0001c0001t0001g0183 a0005c0006t0001g0212 |
3 | 183 | 0.0164 | 9 | c.-14 others(18): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11 | chr17 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45176646 | A | ATGATGTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03516.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 3 | 424 | 0.0071 | 9 | c.-21 others(20): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2137 | chr19 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | ATTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023 | a0001c0001t0008g0001 a0001c0001t0023g0001 |
9 | 265 | 0.0340 | 9 | c.*34 others(18): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 355 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01361.hp2 HG02071.hp1 others(5): Show |
a0001a0003a0008 | a0001c0003a0001c0032a0003c0006others(1): Show | a0001c0003t0001a0001c0032t0001a0003c0006t0001others(2): Show | a0001c0003t0001g0223 a0001c0032t0001g0176 a0003c0006t0001g0010 others(5): Show |
8 | 79 | 0.1013 | 9 | c.749 others(26): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34792126 | T | TGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(55): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0032a0006c0007others(4): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(8): Show | a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 others(55): Show |
58 | 199 | 0.2915 | 9 | c.-11 others(18): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/21 | 109 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG02109.hp1 others(11): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0004c0014others(1): Show | a0002c0002t0002a0004c0004t0005a0004c0014t0011others(1): Show | a0002c0002t0002g0053 a0002c0002t0002g0087 a0002c0002t0002g0088 others(11): Show |
14 | 144 | 0.0972 | 9 | c.44+ others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01261.hp1 HG02015.hp2 others(12): Show |
a0002a0007 | a0002c0002a0007c0008 | a0002c0002t0002a0002c0002t0029a0002c0002t0041others(1): Show | a0002c0002t0002g0052 a0002c0002t0002g0058 a0002c0002t0002g0066 others(12): Show |
15 | 139 | 0.1079 | 9 | c.45- others(26): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34847921 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(79): Show |
a0002a0004a0009others(5): Show | a0002c0002a0002c0032a0004c0004others(8): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(21): Show | a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0052 others(78): Show |
82 | 207 | 0.3961 | 9 | c.103 others(28): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100093375 | T | TTTCAATG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00673.hp2 others(68): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0025others(16): Show | a0001c0001t0001a0001c0004t0001a0001c0025t0001others(16): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(68): Show |
71 | 186 | 0.3817 | 9 | c.840 others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 7/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100135281 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01074.hp1 others(56): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0004a0002c0003others(12): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(12): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(56): Show |
59 | 165 | 0.3576 | 9 | c.44+ others(24): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40443327 | C | CCACCCCG others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(2): Show |
10 | 360 | 0.0278 | 9 | c.*45 others(20): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4440 | chr19 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13290559 | A | ATGTTATT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(10): Show |
13 | 120 | 0.1083 | 9 | c.-26 others(30): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15591629 | A | ACACACAC others(2): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 HG03486.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0065 a0001c0001t0005g0106 a0001c0001t0005g0108 others(1): Show |
4 | 269 | 0.0149 | 9 | c.*48 others(20): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3371 | chr16 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22183591 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0131 a0001c0001t0001g0343 a0001c0001t0001g0369 others(2): Show |
5 | 304 | 0.0164 | 9 | c.107 others(28): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22183591 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0027others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0001t0001g0366 a0001c0003t0001g0114 a0001c0003t0004g0339 others(2): Show |
5 | 294 | 0.0170 | 9 | c.107 others(28): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81043590 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01975.hp2 HG03195.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0011 | a0002c0002t0002g0012 a0002c0002t0002g0108 a0002c0002t0003g0106 others(3): Show |
9 | 23 | 0.3913 | 9 | c.317 others(26): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7795026 | T | TGTTTTTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(109): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(108): Show |
112 | 306 | 0.3660 | 9 | c.665 others(28): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813086 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01975.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0002t0002a0002c0003t0001others(3): Show | a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0206 others(6): Show |
9 | 236 | 0.0381 | 9 | c.665 others(28): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065248 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0002a0001c0003t0001 | a0001c0001t0003g0110 a0001c0002t0002g0161 a0001c0003t0001g0107 |
3 | 221 | 0.0136 | 9 | c.107 others(28): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | chr7 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86809608 | T | TTTTTTTC others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0003t0058a0002c0001t0034others(1): Show | a0001c0002t0006g0011 a0001c0002t0006g0164 a0001c0003t0058g0277 others(3): Show |
6 | 130 | 0.0462 | 9 | c.-26 others(30): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86835549 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02080.hp1 HG02109.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0010a0001c0002t0025a0001c0002t0065others(3): Show | a0001c0002t0010g0028 a0001c0002t0025g0029 a0001c0002t0065g0203 others(6): Show |
9 | 22 | 0.4091 | 9 | c.-26 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86866402 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00621.hp1 others(50): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(11): Show | a0001c0002t0003g0049 a0001c0002t0003g0067 a0001c0002t0003g0074 others(50): Show |
53 | 276 | 0.1920 | 9 | c.-15 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86925721 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02080.hp2 HG02155.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0027a0001c0002t0046a0001c0003t0055others(1): Show | a0001c0002t0027g0013 a0001c0002t0027g0014 a0001c0002t0046g0099 others(2): Show |
5 | 101 | 0.0495 | 9 | c.*20 others(20): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2020 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94818190 | A | ATTGTGCT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02809.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0052 | a0001c0001t0005g0013 a0001c0001t0007g0012 a0001c0001t0052g0134 |
3 | 224 | 0.0134 | 9 | c.-18 others(30): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202376511 | A | AGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0003a0001c0001t0014a0001c0001t0050others(2): Show | a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0020 others(17): Show |
20 | 186 | 0.1075 | 9 | c.-93 others(18): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/13 | 927 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00741.hp2 others(37): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0024others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0041 others(37): Show |
40 | 51 | 0.7843 | 9 | c.76+ others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202385361 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01358.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0015 | a0001c0001t0003g0012 a0001c0001t0003g0023 a0001c0001t0003g0024 others(8): Show |
11 | 139 | 0.0791 | 9 | c.76+ others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202485545 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0021 others(16): Show |
19 | 28 | 0.6786 | 9 | c.418 others(28): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112826654 | T | TTTCTTGT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0035 a0001c0002t0008g0005 a0001c0002t0008g0034 others(2): Show |
6 | 204 | 0.0294 | 9 | c.589 others(26): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112846145 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0003g0023 others(11): Show |
16 | 112 | 0.1429 | 9 | c.474 others(28): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112899789 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00735.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0071 a0001c0001t0001g0181 a0001c0001t0002g0001 others(67): Show |
76 | 166 | 0.4578 | 9 | c.303 others(26): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
BNC1_chr15_83250884_83289664 | 83272394 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01433.hp1 HG01884.hp2 others(29): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0002a0001c0001t0003a0008c0007t0003 | a0001c0001t0002g0141 a0001c0001t0003g0006 a0001c0001t0003g0009 others(14): Show |
32 | 195 | 0.1641 | 9 | c.100 others(26): Show |
BNC1 | ENSG00000169594.14 | transcript | ENST00000345382.7 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16539752 | A | AGGAAAAG others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG03471.hp1 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0003a0001c0001t0009a0009c0014t0046 | a0001c0001t0003g0016 a0001c0001t0009g0117 a0009c0014t0046g0078 |
3 | 174 | 0.0172 | 9 | c.669 others(28): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16815631 | C | CCATAATT others(2): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0129 a0001c0001t0031g0161 |
2 | 174 | 0.0115 | 9 | c.3+5 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16847409 | G | GGGGGGGG others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01433.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0143 a0001c0001t0002g0141 a0001c0001t0002g0169 others(12): Show |
15 | 105 | 0.1429 | 9 | c.3+2 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173139956 | A | ACACAGGT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(124): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(49): Show |
127 | 350 | 0.3629 | 9 | c.-45 others(20): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 4574 | chr5 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36321102 | G | GGTCTCAG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(199): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0017a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 others(120): Show |
202 | 422 | 0.4787 | 9 | c.166 others(24): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113247500 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01884.hp1 others(21): Show |
a0001a0003a0004 | a0001c0008a0001c0014a0001c0018others(3): Show | a0001c0008t0005a0001c0008t0011a0001c0008t0022others(8): Show | a0001c0008t0005g0103 a0001c0008t0005g0290 a0001c0008t0011g0147 others(19): Show |
24 | 33 | 0.7273 | 9 | c.-81 others(26): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177696 | G | GGAAGAGA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02004.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0028 others(5): Show |
8 | 235 | 0.0340 | 9 | c.*43 others(24): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424574 | T | TTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 a0001c0001t0002g0263 a0001c0001t0002g0265 others(1): Show |
4 | 374 | 0.0107 | 9 | c.121 others(28): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424642 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00741.hp2 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0002g0198 a0002c0002t0001g0061 a0002c0002t0001g0066 others(18): Show |
21 | 269 | 0.0781 | 9 | c.121 others(28): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38302460 | C | CAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(56): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0320 a0001c0001t0001g0321 others(47): Show |
59 | 94 | 0.6277 | 9 | c.-17 others(20): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar |