regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMERB1_chr16_15429588_15593259 | 15433583 | A | ATTTTCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0268a0001c0002t0001g0273 | 2 | 291 | 0.0069 | 18 | c.-10 others(29): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1004 | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0163others(1): Show | 4 | 291 | 0.0138 | 18 | c.106 others(35): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15591594 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 291 | 0.0034 | 18 | c.*47 others(29): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00741.hp2 others(42): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0162others(41): Show | 45 | 414 | 0.1087 | 18 | c.-5- others(31): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40108219 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0023 | 1 | 414 | 0.0024 | 18 | c.-6+ others(29): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02071.hp1 HG02293.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0044a0001c0001t0001g0045others(14): Show | 18 | 418 | 0.0431 | 18 | c.148 others(33): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP1_chr8_22160372_22206482 | 22183591 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0229 | 2 | 418 | 0.0048 | 18 | c.107 others(37): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02071.hp1 HG03130.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0040others(12): Show | 15 | 408 | 0.0368 | 18 | c.148 others(33): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP1_chr8_22160372_22217326 | 22183591 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0220a0001c0001t0006g0205 | 2 | 408 | 0.0049 | 18 | c.107 others(37): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78772054 | G | GACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03041.hp1 HG03139.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0017a0003c0005 | a0001c0001t0006a0001c0017t0011a0003c0005t0008 | a0001c0001t0006g0034a0001c0017t0011g0042a0003c0005t0008g0130others(3): Show | 6 | 204 | 0.0294 | 18 | c.-44 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 4295 | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78786405 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp1 |
a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0026a0005c0004t0005g0027 | 2 | 204 | 0.0098 | 18 | c.178 others(35): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2_chr20_6762686_6785246 | 6767152 | A | ATCTCTAT others(11): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 464 | 0.0022 | 18 | c.-17 others(29): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 533 | chr20 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 2 | 464 | 0.0043 | 18 | c.-7- others(31): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BMP2_chr20_6762686_6785246 | 6769633 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 464 | 0.0022 | 18 | c.-7- others(31): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BMP3_chr4_81025708_81062627 | 81032194 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0065 | 1 | 382 | 0.0026 | 18 | c.316 others(33): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18995.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0212a0001c0002t0001g0223 | 2 | 308 | 0.0065 | 18 | c.665 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01993.hp1 HG03098.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0002a0001c0009t0001 | a0001c0001t0001g0122a0001c0001t0001g0130a0001c0001t0001g0132others(4): Show | 7 | 308 | 0.0227 | 18 | c.665 others(37): 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(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02071.hp2 HG02080.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0001g0168a0001c0001t0001g0183a0001c0001t0009g0059others(2): Show | 5 | 308 | 0.0162 | 18 | c.665 others(37): 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(11): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03195.hp1 HG04228.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0009a0003c0006t0007 | a0001c0001t0001g0222a0001c0001t0009g0307a0003c0006t0007g0003 | 3 | 308 | 0.0097 | 18 | c.665 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02622.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0117a0001c0002t0002g0209 | 2 | 308 | 0.0065 | 18 | c.665 others(37): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 308 | 0.0033 | 18 | c.665 others(37): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7856595 | A | ATTTCTTT others(11): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 308 | 0.0033 | 18 | c.858 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7856595 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(55): Show | 58 | 308 | 0.1883 | 18 | c.858 others(35): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57176750 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 272 | 0.0037 | 18 | c.959 others(35): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 4/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57209249 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 272 | 0.0037 | 18 | c.612 others(35): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39515681 | G | GGTGGAGG others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00738.hp2 others(16): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0043a0002c0002t0008others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0048others(13): Show | 19 | 362 | 0.0525 | 18 | c.673 others(35): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BMP8B_chr1_39752182_39793865 | 39789324 | G | GCGTGCGC others(11): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(24): Show |
a0004a0009 | a0004c0006a0004c0012a0009c0017 | a0004c0006t0005a0004c0012t0005a0009c0017t0038 | a0004c0006t0005g0008a0004c0006t0005g0224a0004c0006t0005g0225others(15): Show | 27 | 430 | 0.0628 | 18 | c.-84 others(27): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 460 | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024384 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 232 | 0.0043 | 18 | c.577 others(37): 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(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 232 | 0.0043 | 18 | c.107 others(37): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01517.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0135a0001c0001t0001g0182others(12): Show | 15 | 232 | 0.0647 | 18 | c.174 others(39): 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(11): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03490.hp1 NA18984.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0002t0025a0002c0006t0001 | a0001c0001t0001g0051a0001c0002t0025g0193a0002c0006t0001g0091 | 3 | 232 | 0.0129 | 18 | c.174 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34119014 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0173 | 1 | 232 | 0.0043 | 18 | c.174 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129577 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0103 | 1 | 232 | 0.0043 | 18 | c.174 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129622 | G | GAAAGAGA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0168 | 1 | 232 | 0.0043 | 18 | c.174 others(39): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86799506 | C | CTTCCTTC others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0083 | a0001c0002t0083g0198 | 1 | 278 | 0.0036 | 18 | c.-26 others(39): 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(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0002t0010a0001c0002t0025others(2): Show | a0001c0002t0007g0026a0001c0002t0007g0027a0001c0002t0010g0033others(3): Show | 6 | 278 | 0.0216 | 18 | c.-26 others(39): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86805377 | T | TACGCACA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0040a0002c0001t0071 | a0001c0002t0040g0038a0002c0001t0071g0171 | 2 | 278 | 0.0072 | 18 | c.-26 others(39): 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(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007 | a0001c0002t0006g0011a0001c0002t0007g0271 | 2 | 278 | 0.0072 | 18 | c.-26 others(39): 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(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0022a0001c0002t0036others(1): Show | a0001c0002t0010g0170a0001c0002t0010g0191a0001c0002t0010g0194others(5): Show | 8 | 278 | 0.0288 | 18 | c.-26 others(39): 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(11): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0156 | 1 | 278 | 0.0036 | 18 | c.-26 others(39): 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(11): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02027.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0011 | a0002c0001t0001g0273a0002c0001t0011g0221 | 2 | 278 | 0.0072 | 18 | 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 | 86837231 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0079 | 1 | 278 | 0.0036 | 18 | 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 | 86837245 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 NA19001.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0021 | a0001c0002t0003g0068a0001c0002t0021g0154a0001c0002t0021g0155 | 3 | 278 | 0.0108 | 18 | 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 | 86925721 | C | CTTTTTTT others(11): Show |
3_prime_UTR_variant | MODIFIER | NA18963.hp1 NA19089.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0069a0002c0001t0070 | a0001c0002t0069g0212a0002c0001t0070g0203 | 2 | 278 | 0.0072 | 18 | c.*20 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2020 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0181 | 1 | 278 | 0.0036 | 18 | c.*75 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0164 | 1 | 278 | 0.0036 | 18 | c.*75 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94770180 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0013a0001c0001t0010g0018 | 2 | 226 | 0.0089 | 18 | c.-18 others(39): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94965777 | A | AGAGAGTG others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0051 | a0001c0001t0024g0133a0001c0001t0051g0135 | 2 | 226 | 0.0089 | 18 | c.-11 others(39): 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(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(57): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0154a0001c0001t0002g0037a0001c0001t0002g0043others(57): Show | 60 | 226 | 0.2655 | 18 | c.-11 others(39): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94981003 | A | ACGCGCGT others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0023a0002c0003t0017 | a0001c0001t0002g0218a0001c0001t0023g0038a0001c0001t0023g0216others(1): Show | 4 | 226 | 0.0177 | 18 | c.-11 others(39): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |