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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMP2K_chr4_78771350_78921365 | 78890404 | G | GCACACA | intron_variant | MODIFIER | HG03453.hp2 HG03579.hp1 NA18906.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0053 a0007c0008t0001g0070 a0007c0008t0001g0096 others(1): Show |
4 | 204 | 0.0196 | 6 | c.206 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GGTGTGT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00738.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0046 others(6): Show |
28 | 464 | 0.0603 | 6 | c.-7- others(19): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6784487 | A | AACACAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(30): Show |
61 | 464 | 0.1315 | 6 | c.*53 others(17): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 4242 | chr20 | TogoVar | |||||||
BMP3_chr4_81025708_81062627 | 81032194 | C | CAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG02809.hp1 HG03669.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0042others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0071 others(3): Show |
9 | 382 | 0.0236 | 6 | c.316 others(21): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81043590 | A | ATTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02040.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0014a0001c0003t0036 | a0001c0001t0004g0051 a0001c0003t0014g0033 a0001c0003t0014g0041 others(1): Show |
6 | 382 | 0.0157 | 6 | c.317 others(23): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81056295 | G | GCACACA | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01081.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0016others(6): Show | a0001c0001t0004g0010 a0001c0001t0004g0051 a0001c0001t0004g0053 others(20): Show |
36 | 382 | 0.0942 | 6 | c.*27 others(17): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 3/3 | 2778 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP5_chr6_55748653_55880590 | 55751778 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG02622.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0030a0001c0002t0001others(1): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0208 others(8): Show |
11 | 320 | 0.0344 | 6 | c.*37 others(17): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1874 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55836627 | T | TACACAC | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp1 NA19030.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0006a0001c0002t0001a0003c0006t0001 | a0001c0001t0006g0277 a0001c0002t0001g0010 a0003c0006t0001g0281 |
3 | 320 | 0.0094 | 6 | c.491 others(25): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55841916 | C | CAGAGAG | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG02965.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0006a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0006g0277 a0001c0001t0007g0301 a0001c0002t0001g0082 others(5): Show |
8 | 320 | 0.0250 | 6 | c.491 others(25): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7722447 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(13): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0141 a0001c0001t0001g0162 others(13): Show |
16 | 308 | 0.0520 | 6 | c.-45 others(17): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 3651 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7759962 | C | CCCAAGG | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG03098.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0019a0004c0007 | a0001c0001t0003a0001c0019t0003a0004c0007t0002others(1): Show | a0001c0001t0003g0078 a0001c0019t0003g0224 a0004c0007t0002g0077 others(1): Show |
4 | 308 | 0.0130 | 6 | c.664 others(25): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7780709 | G | GTTATTA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(154): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(154): Show |
157 | 308 | 0.5097 | 6 | c.664 others(25): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7822897 | T | TTGTGTG | intron_variant | MODIFIER | HG02004.hp2 HG02976.hp1 NA19085.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001 | a0001c0001t0001g0125 a0001c0001t0003g0206 a0002c0004t0001g0301 |
3 | 308 | 0.0097 | 6 | c.665 others(25): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7856120 | T | TAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01081.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0001g0100 others(48): Show |
51 | 308 | 0.1656 | 6 | c.858 others(23): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57176750 | T | TCACACA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0062 others(67): Show |
70 | 272 | 0.2574 | 6 | c.959 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 4/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57187554 | C | CCTCTCT | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(23): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0072 others(22): Show |
26 | 272 | 0.0956 | 6 | c.761 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57209249 | T | TTATATA | intron_variant | MODIFIER | HG01099.hp1 HG01516.hp2 HG01517.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0009others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0095 a0001c0001t0001g0221 others(7): Show |
11 | 272 | 0.0404 | 6 | c.612 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57250339 | A | ATATATC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0044 others(47): Show |
52 | 272 | 0.1912 | 6 | c.418 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57265042 | A | AAAAAAG | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00733.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0044 others(53): Show |
58 | 272 | 0.2132 | 6 | c.418 others(21): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39497738 | T | TCCCTGC | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02647.hp1 others(6): Show |
a0005a0015 | a0005c0006a0015c0038 | a0005c0006t0010a0005c0006t0060a0015c0038t0061 | a0005c0006t0010g0012 a0005c0006t0010g0255 a0005c0006t0010g0256 others(4): Show |
9 | 362 | 0.0249 | 6 | c.334 others(23): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMP8A_chr1_39486636_39534869 | 39523979 | A | AACACAC | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG02809.hp2 others(2): Show |
a0002a0009 | a0002c0009a0002c0028a0009c0012 | a0002c0009t0009a0002c0028t0009a0009c0012t0019 | a0002c0009t0009g0167 a0002c0009t0009g0168 a0002c0009t0009g0175 others(2): Show |
5 | 362 | 0.0138 | 6 | c.105 others(23): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33909693 | A | AAAAAAG | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0003g0094 others(5): Show |
8 | 232 | 0.0345 | 6 | c.219 others(23): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33920418 | G | GTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 NA19058.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0002t0005a0002c0006t0002 | a0001c0001t0001g0225 a0001c0002t0005g0227 a0002c0006t0002g0059 |
3 | 232 | 0.0129 | 6 | c.219 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34020859 | A | AACACAC | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG02027.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0146 a0001c0002t0002g0052 a0001c0002t0002g0055 others(1): Show |
4 | 232 | 0.0172 | 6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024383 | C | CTATATA | intron_variant | MODIFIER | HG02895.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0087 a0001c0002t0006g0024 |
2 | 232 | 0.0086 | 6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | chr7 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 34024384 | A | AATATAT | intron_variant | MODIFIER | HG01257.hp2 HG02132.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0182 a0001c0001t0005g0044 a0001c0001t0007g0108 others(6): Show |
9 | 232 | 0.0388 | 6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34028601 | G | GTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01891.hp1 HG02630.hp1 others(9): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0006others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0094 a0001c0001t0004g0093 a0001c0001t0006g0079 others(9): Show |
12 | 232 | 0.0517 | 6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34031943 | C | CACACAT | intron_variant | MODIFIER | NA18942.hp2 NA18973.hp1 NA18992.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0020others(1): Show | a0001c0001t0003a0002c0006t0001a0002c0020t0001others(1): Show | a0001c0001t0003g0007 a0002c0006t0001g0057 a0002c0006t0001g0207 others(3): Show |
6 | 232 | 0.0259 | 6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34031995 | A | ATATGTG | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0013a0001c0010t0012 | a0001c0001t0013g0022 a0001c0010t0012g0008 |
2 | 232 | 0.0086 | 6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34039603 | T | TACACAC | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 NA18612.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0198 a0001c0001t0002g0047 a0001c0001t0007g0108 others(7): Show |
10 | 232 | 0.0431 | 6 | c.577 others(23): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34057831 | A | AACACAC | intron_variant | MODIFIER | HG00673.hp1 HG02132.hp2 HG03209.hp1 others(6): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0017 | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(2): Show | a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0008g0156 others(6): Show |
9 | 232 | 0.0388 | 6 | c.928 others(21): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065199 | A | ACTCTCT | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0022others(4): Show | a0001c0001t0001g0183 a0001c0001t0009g0137 a0001c0001t0022g0228 others(4): Show |
7 | 232 | 0.0302 | 6 | c.107 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065203 | A | ACTCTCT | intron_variant | MODIFIER | HG01074.hp2 HG02602.hp2 NA19065.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0005t0001 | a0001c0002t0001g0117 a0001c0002t0002g0062 a0001c0005t0001g0179 |
3 | 232 | 0.0129 | 6 | c.107 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129577 | G | GGAGAGA | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01243.hp2 others(17): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(11): Show | a0001c0001t0001g0166 a0001c0002t0001g0039 a0001c0002t0001g0043 others(17): Show |
20 | 232 | 0.0862 | 6 | c.174 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129598 | G | GAGAGAA | intron_variant | MODIFIER | HG00621.hp2 HG02027.hp1 HG02300.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0066 others(9): Show |
12 | 232 | 0.0517 | 6 | c.174 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34129602 | G | GAGAGAA | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp1 NA18981.hp1 |
a0001a0007 | a0001c0001a0001c0002a0007c0013 | a0001c0001t0001a0001c0002t0002a0007c0013t0001 | a0001c0001t0001g0182 a0001c0002t0002g0055 a0007c0013t0001g0206 |
3 | 232 | 0.0129 | 6 | c.174 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34157965 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(45): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 others(45): Show |
48 | 232 | 0.2069 | 6 | c.*46 others(17): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 1539 | chr7 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86766617 | C | CTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG02258.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0022a0001c0002t0037a0001c0002t0039others(4): Show | a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0037g0160 others(5): Show |
8 | 278 | 0.0288 | 6 | c.-26 others(25): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86797069 | T | TTTTTTC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp2 others(73): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(20): Show | a0001c0002t0003g0048 a0001c0002t0003g0065 a0001c0002t0003g0068 others(73): Show |
76 | 278 | 0.2734 | 6 | 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 | 86805377 | T | TACACAC | intron_variant | MODIFIER | HG00642.hp2 HG02486.hp2 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0002t0037a0001c0002t0039others(2): Show | a0001c0002t0006g0025 a0001c0002t0037g0160 a0001c0002t0039g0013 others(2): Show |
5 | 278 | 0.0180 | 6 | 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 | 86837245 | G | GTGTGTC | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG01169.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0023a0002c0001t0043 | a0001c0002t0023g0002 a0001c0002t0023g0127 a0001c0002t0023g0128 others(1): Show |
4 | 278 | 0.0144 | 6 | c.-26 others(25): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86883549 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00673.hp1 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0017others(7): Show | a0001c0002t0003g0068 a0001c0002t0003g0081 a0001c0002t0003g0083 others(21): Show |
24 | 278 | 0.0863 | 6 | c.68- others(21): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86888826 | C | CAAAAAA | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0032a0001c0003t0055 | a0001c0003t0014g0005 a0001c0003t0014g0007 a0001c0003t0014g0008 others(4): Show |
7 | 278 | 0.0252 | 6 | c.68- others(21): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86925721 | C | CTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp2 others(4): Show |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0010a0004c0007t0010 | a0001c0002t0010g0028 a0001c0002t0010g0032 a0001c0002t0010g0033 others(4): Show |
7 | 278 | 0.0252 | 6 | c.*20 others(17): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2020 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86931276 | T | TGCACAC | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0036 | a0001c0002t0022g0265 a0001c0002t0022g0266 a0001c0002t0022g0267 others(1): Show |
4 | 278 | 0.0144 | 6 | c.*75 others(17): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3308 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931313 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG02258.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0040a0002c0001t0008a0002c0001t0041others(1): Show | a0001c0002t0040g0038 a0002c0001t0008g0043 a0002c0001t0008g0053 others(7): Show |
10 | 278 | 0.0360 | 6 | c.*75 others(17): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3345 | chr10 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94761415 | C | CTGTGTG | intron_variant | MODIFIER | HG01496.hp1 HG02630.hp1 HG03491.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(3): Show | a0001c0001t0001g0139 a0001c0001t0003g0143 a0001c0001t0024g0133 others(3): Show |
6 | 226 | 0.0266 | 6 | c.-18 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94770182 | G | GTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01099.hp2 others(8): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0002g0037 others(8): Show |
11 | 226 | 0.0487 | 6 | c.-18 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94844223 | T | TTGTGTG | intron_variant | MODIFIER | HG02132.hp1 HG02622.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009 | a0001c0001t0003g0145 a0001c0001t0006g0185 a0001c0001t0009g0050 |
3 | 226 | 0.0133 | 6 | c.-18 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94882978 | A | ATGTGTG | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01261.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0042 a0001c0001t0002g0092 a0001c0001t0004g0089 others(9): Show |
12 | 226 | 0.0531 | 6 | c.-11 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |