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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMP1_chr8_22160372_22217326 | 22210468 | T | TCTCTCTC others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp1 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0141 a0001c0001t0002g0072 others(30): Show |
33 | 297 | 0.1111 | 16 | c.282 others(33): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78772054 | G | GACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 HG02145.hp1 HG02258.hp1 others(19): Show |
a0001a0005a0013others(1): Show | a0001c0001a0001c0006a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0006t0004others(7): Show | a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0001g0084 others(19): Show |
22 | 179 | 0.1229 | 16 | c.-44 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 4295 | chr4 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78786405 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0040 | 1 | 59 | 0.0169 | 16 | c.178 others(33): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GGGGTGTG others(9): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 72 | 0.0139 | 16 | c.-7- others(29): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 72 | 0.0139 | 16 | c.-7- others(29): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6784487 | A | AACACACA others(9): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 132 | 0.0076 | 16 | c.*53 others(27): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 4242 | chr20 | TogoVar | |||||||
BMP3_chr4_81025708_81062627 | 81032194 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0067 | 1 | 7 | 0.1429 | 16 | c.316 others(31): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55837335 | T | TTAGATAG others(9): Show |
intron_variant | MODIFIER | HG00544.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0001 | a0001c0001t0018g0265 a0001c0002t0001g0034 |
2 | 145 | 0.0138 | 16 | c.491 others(35): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55837369 | A | AGATAGAT others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01081.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0001g0157 a0001c0001t0005g0288 a0001c0001t0011g0287 others(25): Show |
29 | 267 | 0.1086 | 16 | c.491 others(35): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55837376 | T | TAGATAGA others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 294 | 0.0034 | 16 | c.491 others(35): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55841916 | C | CAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0071 | 1 | 162 | 0.0062 | 16 | c.491 others(35): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7780030 | T | TTGAGGAT others(9): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 306 | 0.0033 | 16 | c.664 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0277 | 1 | 97 | 0.0103 | 16 | c.665 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01361.hp1 HG01975.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0124 a0001c0001t0001g0214 a0002c0004t0002g0230 |
3 | 99 | 0.0303 | 16 | c.665 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18988.hp2 |
a0001a0004 | a0001c0011a0004c0007 | a0001c0011t0001a0004c0007t0003 | a0001c0011t0001g0153 a0004c0007t0003g0079 |
2 | 98 | 0.0204 | 16 | c.665 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01516.hp1 HG03139.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0009a0001c0002t0002a0002c0003t0005others(2): Show | a0001c0001t0009g0304 a0001c0002t0002g0088 a0002c0003t0005g0280 others(2): Show |
5 | 101 | 0.0495 | 16 | c.665 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAATA others(9): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0283 | 1 | 97 | 0.0103 | 16 | c.665 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7856595 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG02559.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0002g0143 others(6): Show |
9 | 49 | 0.1837 | 16 | c.858 others(33): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57209249 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG02132.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0139 a0001c0001t0021g0157 |
2 | 95 | 0.0211 | 16 | c.612 others(33): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57209249 | T | TTTTATAT others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 94 | 0.0106 | 16 | c.612 others(33): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33919923 | A | ATATCTAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0051 others(41): Show |
44 | 95 | 0.4632 | 16 | c.219 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33919923 | A | ATATCTGT others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 HG03471.hp1 |
a0001a0003 | a0001c0004a0003c0012a0003c0019 | a0001c0004t0004a0003c0012t0004a0003c0019t0006 | a0001c0004t0004g0017 a0003c0012t0004g0012 a0003c0019t0006g0013 |
3 | 54 | 0.0556 | 16 | c.219 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024357 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG03139.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0005a0001c0007others(1): Show | a0001c0002t0005a0001c0005t0007a0001c0007t0003others(1): Show | a0001c0002t0005g0199 a0001c0005t0007g0096 a0001c0007t0003g0201 others(1): Show |
4 | 107 | 0.0374 | 16 | c.577 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024384 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0150 | 1 | 24 | 0.0417 | 16 | c.577 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065199 | A | ACTCTCTC others(9): Show |
intron_variant | MODIFIER | HG02300.hp1 HG03453.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0003t0001 | a0001c0001t0003g0007 a0001c0001t0013g0022 a0001c0003t0001g0149 |
3 | 170 | 0.0176 | 16 | c.107 others(35): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34119012 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0062 | 1 | 229 | 0.0044 | 16 | c.174 others(37): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(85): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0054 others(85): Show |
88 | 131 | 0.6718 | 16 | c.174 others(37): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCTCACAC others(9): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 44 | 0.0227 | 16 | c.174 others(37): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129618 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0105 | 1 | 109 | 0.0092 | 16 | c.174 others(37): 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(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01192.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0032others(6): Show | a0001c0001t0001g0166 a0001c0001t0006g0185 a0001c0001t0032g0188 others(6): Show |
9 | 15 | 0.6000 | 16 | c.174 others(37): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790188 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0235 | 1 | 189 | 0.0053 | 16 | c.-26 others(37): 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(9): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0012 | 1 | 166 | 0.0060 | 16 | c.-26 others(37): 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(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0040a0002c0001t0071 | a0001c0002t0040g0037 a0002c0001t0071g0174 |
2 | 232 | 0.0086 | 16 | c.-26 others(37): 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(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01934.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0002t0004a0001c0002t0017others(6): Show | a0001c0002t0003g0084 a0001c0002t0003g0088 a0001c0002t0003g0115 others(11): Show |
14 | 131 | 0.1069 | 16 | c.-26 others(37): 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(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03225.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0002t0033a0001c0003t0014 | a0001c0002t0006g0208 a0001c0002t0033g0271 a0001c0003t0014g0002 others(1): Show |
4 | 198 | 0.0202 | 16 | c.-26 others(37): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86824105 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0161 | 1 | 177 | 0.0056 | 16 | c.-26 others(37): 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(9): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0159 | 1 | 111 | 0.0090 | 16 | c.-26 others(37): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837235 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0142 | 1 | 276 | 0.0036 | 16 | c.-26 others(35): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837249 | G | GTCTGTGT others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0012 | 1 | 275 | 0.0036 | 16 | c.-26 others(35): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86837249 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0125 | 1 | 275 | 0.0036 | 16 | c.-26 others(35): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86925721 | C | CTTTTTTT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 NA18955.hp1 NA18965.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0083a0002c0001t0015a0002c0001t0067 | a0001c0002t0083g0176 a0002c0001t0015g0046 a0002c0001t0015g0054 others(3): Show |
6 | 102 | 0.0588 | 16 | c.*20 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2020 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86931296 | C | CATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0081 | a0001c0002t0081g0168 | 1 | 276 | 0.0036 | 16 | c.*75 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3328 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(9): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02976.hp1 NA18522.hp2 |
a0002 | a0002c0001 | a0002c0001t0005a0002c0001t0073 | a0002c0001t0005g0190 a0002c0001t0005g0191 a0002c0001t0073g0269 |
3 | 123 | 0.0244 | 16 | c.*75 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94902063 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0086 | 1 | 224 | 0.0045 | 16 | c.-11 others(37): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94908093 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0059 | a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0059g0124 |
3 | 165 | 0.0182 | 16 | c.-11 others(37): 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(9): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03139.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0024 a0001c0001t0008g0025 a0001c0001t0008g0027 |
3 | 83 | 0.0361 | 16 | c.-11 others(37): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94965777 | A | AGAGAGTG others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0002g0221 others(25): Show |
28 | 218 | 0.1284 | 16 | c.-11 others(37): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94970312 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp2 HG01169.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0002g0138 others(15): Show |
18 | 135 | 0.1333 | 16 | c.-11 others(37): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94981003 | A | ACGCGCGC others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(124): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0048 others(124): Show |
127 | 156 | 0.8141 | 16 | c.-11 others(37): 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(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01099.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0097 a0001c0001t0001g0214 a0001c0001t0001g0218 others(15): Show |
18 | 101 | 0.1782 | 16 | c.-18 others(35): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |