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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMPER_chr7_33900539_34161427 | 34129598 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01070.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0015others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0142 a0001c0002t0001g0104 others(2): Show |
5 | 215 | 0.0233 | 8 | c.174 others(29): 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(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03041.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(3): Show | a0001c0001t0001g0205 a0001c0001t0013g0022 a0001c0002t0001g0134 others(3): Show |
6 | 12 | 0.5000 | 8 | c.174 others(29): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34157965 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 NA18612.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0184 a0001c0001t0011g0124 a0001c0002t0001g0134 |
3 | 103 | 0.0291 | 8 | c.*46 others(19): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 1539 | chr7 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86766617 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01109.hp1 others(42): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0002t0010others(18): Show | a0001c0002t0006g0011 a0001c0002t0006g0025 a0001c0002t0006g0127 others(42): Show |
45 | 116 | 0.3879 | 8 | c.-26 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86791687 | T | TCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0001 | a0001c0002t0022a0001c0002t0025a0001c0002t0037others(3): Show | a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0022g0268 others(5): Show |
8 | 173 | 0.0462 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86796490 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01884.hp1 HG01952.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0002t0039a0001c0002t0081others(4): Show | a0001c0002t0006g0164 a0001c0002t0039g0012 a0001c0002t0081g0168 others(5): Show |
8 | 132 | 0.0606 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86797068 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0022a0001c0002t0037a0002c0001t0012others(1): Show | a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0022g0268 others(3): Show |
6 | 183 | 0.0328 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86799469 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02698.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0014a0001c0003t0032a0001c0003t0055others(2): Show | a0001c0003t0014g0007 a0001c0003t0014g0008 a0001c0003t0032g0004 others(5): Show |
8 | 238 | 0.0336 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86805377 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0002t0021a0001c0002t0022others(6): Show | a0001c0002t0003g0108 a0001c0002t0021g0073 a0001c0002t0021g0155 others(14): Show |
17 | 134 | 0.1269 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86809608 | T | TTTTTTCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(143): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(54): Show | a0001c0002t0003g0049 a0001c0002t0003g0062 a0001c0002t0003g0066 others(143): Show |
146 | 270 | 0.5407 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86824081 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0014a0001c0003t0055a0002c0001t0034 | a0001c0003t0014g0008 a0001c0003t0055g0006 a0002c0001t0034g0147 others(1): Show |
4 | 198 | 0.0202 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86826411 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00609.hp2 others(67): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(16): Show | a0001c0002t0003g0049 a0001c0002t0003g0062 a0001c0002t0003g0067 others(67): Show |
70 | 180 | 0.3889 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837231 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02970.hp1 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0031a0001c0003t0033 | a0001c0003t0031g0017 a0001c0003t0031g0019 a0001c0003t0033g0018 |
3 | 247 | 0.0121 | 8 | c.-26 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837243 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0025 | a0001c0002t0007g0024 a0001c0002t0007g0026 a0001c0002t0025g0030 |
3 | 248 | 0.0121 | 8 | c.-26 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86923241 | G | GATGTATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp2 others(63): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(11): Show | a0001c0002t0003g0049 a0001c0002t0003g0062 a0001c0002t0003g0066 others(63): Show |
66 | 276 | 0.2391 | 8 | c.134 others(25): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 11/12 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 NA18965.hp1 NA19074.hp2 |
a0002 | a0002c0001 | a0002c0001t0015 | a0002c0001t0015g0054 a0002c0001t0015g0072 a0002c0001t0015g0124 |
3 | 123 | 0.0244 | 8 | c.*75 others(19): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931313 | A | ATATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01192.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0023a0001c0002t0051 | a0001c0002t0006g0011 a0001c0002t0006g0164 a0001c0002t0006g0169 others(4): Show |
7 | 251 | 0.0279 | 8 | c.*75 others(19): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3345 | chr10 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94770180 | G | GGTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01515.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0027 | a0001c0001t0003g0123 a0001c0001t0015g0127 a0001c0001t0027g0128 |
3 | 101 | 0.0297 | 8 | c.-18 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94842913 | G | GTGTATGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02486.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008 | a0001c0001t0003g0032 a0001c0001t0005g0162 a0001c0001t0008g0025 |
3 | 76 | 0.0395 | 8 | c.-18 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94849793 | G | GGGGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(117): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(117): Show |
120 | 186 | 0.6452 | 8 | c.-18 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94894438 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0064 |
3 | 148 | 0.0203 | 8 | c.-11 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94902046 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0187 a0001c0001t0003g0032 a0001c0001t0007g0222 others(6): Show |
9 | 77 | 0.1169 | 8 | c.-11 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94902216 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0046 | a0001c0001t0018g0109 a0001c0001t0046g0001 |
2 | 186 | 0.0108 | 8 | c.-11 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94902245 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0200 a0001c0001t0015g0201 |
2 | 197 | 0.0102 | 8 | c.-11 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94955637 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00639.hp2 others(125): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 others(125): Show |
128 | 213 | 0.6009 | 8 | c.-11 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94962072 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG00738.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0059 a0001c0001t0001g0155 a0001c0001t0001g0163 others(10): Show |
13 | 93 | 0.1398 | 8 | c.-11 others(29): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG01261.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0002g0083 a0001c0001t0004g0004 a0001c0001t0004g0054 others(20): Show |
23 | 106 | 0.2170 | 8 | c.-18 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026103 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0002g0144 a0001c0001t0002g0161 a0001c0001t0003g0031 others(6): Show |
9 | 224 | 0.0402 | 8 | c.-18 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95053281 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01934.hp2 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0146 a0001c0001t0002g0043 others(12): Show |
15 | 41 | 0.3659 | 8 | c.-17 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95061160 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0049 | a0001c0001t0002g0042 a0001c0001t0002g0062 a0001c0001t0002g0092 others(1): Show |
4 | 15 | 0.2667 | 8 | c.-17 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95071652 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0056 | a0001c0001t0004g0211 a0001c0001t0056g0008 |
2 | 84 | 0.0238 | 8 | c.-17 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95116421 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01175.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0044 others(14): Show |
17 | 47 | 0.3617 | 8 | c.349 others(23): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95116421 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02976.hp1 HG03491.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0039a0001c0002t0020 | a0001c0001t0013g0015 a0001c0001t0039g0142 a0001c0002t0020g0220 |
3 | 33 | 0.0909 | 8 | c.349 others(23): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95120610 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0001g0152 others(5): Show |
8 | 51 | 0.1569 | 8 | c.350 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95127044 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01243.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0005a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0015g0127 others(5): Show |
8 | 116 | 0.0690 | 8 | c.585 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95158473 | C | CTTATTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG02055.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(9): Show | a0001c0001t0001g0081 a0001c0001t0007g0194 a0001c0001t0007g0212 others(15): Show |
18 | 136 | 0.1324 | 8 | c.*38 others(19): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 26 | chr4 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 95160537 | C | CCCTCCCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG03041.hp1 HG03486.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0015a0001c0001t0016a0004c0003t0016 | a0001c0001t0015g0127 a0001c0001t0016g0039 a0001c0001t0016g0206 others(1): Show |
4 | 127 | 0.0315 | 8 | c.*58 others(19): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2090 | chr4 | TogoVar | |||||||
BMPR2_chr2_202371327_202572749 | 202379838 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(3): Show | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(16): Show |
19 | 211 | 0.0900 | 8 | c.76+ others(23): 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(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0048others(2): Show | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(8): Show |
11 | 139 | 0.0791 | 8 | c.76+ others(23): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202393882 | C | CGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0022others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0091 a0001c0001t0001g0094 others(8): Show |
11 | 21 | 0.5238 | 8 | c.76+ others(25): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202449308 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG01433.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0001t0041a0001c0001t0045others(2): Show | a0001c0001t0006g0148 a0001c0001t0041g0143 a0001c0001t0045g0032 others(2): Show |
5 | 118 | 0.0424 | 8 | c.77- others(25): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202471912 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0202 a0001c0001t0008g0203 a0001c0001t0008g0204 others(3): Show |
6 | 145 | 0.0414 | 8 | c.418 others(25): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMS1_chr10_42777795_42839937 | 42826237 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02280.hp2 HG02735.hp2 others(1): Show |
a0001a0026 | a0001c0008a0026c0020 | a0001c0008t0007a0001c0008t0015a0001c0008t0019others(1): Show | a0001c0008t0007g0154 a0001c0008t0015g0159 a0001c0008t0019g0156 others(1): Show |
4 | 50 | 0.0800 | 8 | c.345 others(27): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112846145 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG00735.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0071 a0001c0001t0001g0182 a0001c0001t0002g0001 others(55): Show |
62 | 158 | 0.3924 | 8 | c.474 others(27): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112907842 | C | CTTACTTA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00733.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0162 others(25): Show |
28 | 40 | 0.7000 | 8 | c.302 others(25): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112907842 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01975.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0072 a0001c0001t0001g0120 a0001c0001t0001g0122 others(15): Show |
19 | 31 | 0.6129 | 8 | c.302 others(25): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
BMX_chrX_15495807_15561519 | 15527283 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0021 |
2 | 26 | 0.0769 | 8 | c.884 others(25): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BMX_chrX_15495807_15561519 | 15527283 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01123.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show |
7 | 31 | 0.2258 | 8 | c.884 others(25): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BNC1_chr15_83250884_83289664 | 83272394 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02572.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0038 a0001c0001t0002g0140 a0001c0001t0002g0142 others(3): Show |
9 | 172 | 0.0523 | 8 | c.100 others(25): Show |
BNC1 | ENSG00000169594.14 | transcript | ENST00000345382.7 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
BNC1_chr15_83250884_83289664 | 83285253 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG02056.hp2 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0025 others(8): Show |
13 | 85 | 0.1529 | 8 | c.-62 others(17): Show |
BNC1 | ENSG00000169594.14 | transcript | ENST00000345382.7 | protein_coding | 590 | chr15 | TogoVar |