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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMAL2_chr12_27327836_27430286 | 27381014 | ATTAAGT | A | intron_variant | MODIFIER | HG00642.hp2 NA18612.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0002g0127 a0001c0001t0002g0145 others(2): Show |
5 | 308 | 0.0162 | -6 | c.484 others(21): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | GCACACA | G | intron_variant | MODIFIER | HG00741.hp1 HG02630.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0164 a0001c0001t0004g0221 a0001c0001t0004g0241 others(6): Show |
9 | 17 | 0.5294 | -6 | c.177 others(23): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15496188 | GTGGTGA | G | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0029 a0001c0001t0003g0119 a0001c0001t0010g0028 |
3 | 290 | 0.0103 | -6 | c.107 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15512012 | CAAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG01975.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0104 a0001c0001t0001g0256 a0001c0001t0003g0165 others(15): Show |
18 | 51 | 0.3529 | -6 | c.107 others(23): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15522431 | CCACACA | C | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | 228 | 0.0263 | -6 | c.230 others(23): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15534286 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0128 a0001c0001t0001g0241 a0001c0001t0001g0245 others(30): Show |
33 | 254 | 0.1299 | -6 | c.230 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15580678 | GCTGGGA | G | intron_variant | MODIFIER | HG01496.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0103 a0001c0004t0010g0105 a0001c0004t0010g0107 |
3 | 290 | 0.0103 | -6 | c.305 others(21): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40083334 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01109.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0092 a0001c0001t0002g0033 a0001c0001t0002g0046 others(13): Show |
18 | 135 | 0.1333 | -6 | c.*84 others(17): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40107533 | AGTGTGT | A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0133 a0001c0001t0001g0347 a0001c0001t0003g0068 others(6): Show |
9 | 62 | 0.1452 | -6 | c.-6+ others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP10_chr2_68855909_68876397 | 68874336 | ATCCTTC | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0035 | a0001c0002t0005g0006 a0001c0002t0005g0039 a0001c0002t0006g0007 others(1): Show |
34 | 414 | 0.0821 | -6 | c.-29 others(17): Show |
BMP10 | ENSG00000163217.2 | transcript | ENST00000295379.2 | protein_coding | 2940 | chr2 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22183591 | AATTATT | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0109 a0001c0001t0001g0203 a0001c0001t0001g0218 others(4): Show |
7 | 306 | 0.0229 | -6 | c.107 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22183591 | AATTATT | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0190 a0001c0001t0001g0347 a0001c0002t0001g0332 others(4): Show |
7 | 296 | 0.0236 | -6 | c.107 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78786405 | ATGTGTG | A | intron_variant | MODIFIER | HG02165.hp2 HG02622.hp2 HG02698.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0003a0005c0004t0013 | a0001c0001t0001g0052 a0001c0001t0003g0015 a0005c0004t0013g0107 others(1): Show |
4 | 62 | 0.0645 | -6 | c.178 others(23): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78801344 | CTGTGTG | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 NA18522.hp1 |
a0001a0008 | a0001c0017a0008c0014 | a0001c0017t0011a0008c0014t0024a0008c0014t0025 | a0001c0017t0011g0044 a0008c0014t0024g0111 a0008c0014t0025g0110 |
3 | 87 | 0.0345 | -6 | c.178 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78873658 | CTGTGTG | C | intron_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG01952.hp1 others(8): Show |
a0001a0014 | a0001c0001a0001c0018a0014c0016 | a0001c0001t0003a0001c0001t0017a0001c0001t0019others(2): Show | a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0013 others(8): Show |
11 | 97 | 0.1134 | -6 | c.179 others(23): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55751778 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02809.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 others(13): Show |
16 | 60 | 0.2667 | -6 | c.*37 others(17): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1874 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55759144 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0159 a0001c0001t0001g0168 others(37): Show |
41 | 116 | 0.3534 | -6 | c.110 others(21): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55759178 | AAAAAAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0192 a0001c0002t0001g0067 a0001c0002t0001g0135 others(5): Show |
8 | 318 | 0.0252 | -6 | c.110 others(21): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55773495 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(131): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 others(130): Show |
134 | 242 | 0.5537 | -6 | c.102 others(23): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55780472 | AAGAAAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02647.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(1): Show | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0050 others(8): Show |
11 | 315 | 0.0349 | -6 | c.833 others(23): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7800079 | GGTGTGT | G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02109.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0044 a0001c0001t0001g0130 a0001c0001t0001g0132 others(25): Show |
28 | 118 | 0.2373 | -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 | 7822897 | TTGTGTG | T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02965.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0012a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0012t0018others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0219 a0001c0001t0001g0222 others(7): Show |
10 | 168 | 0.0595 | -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 | TAAAAAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0013g0054 a0001c0001t0015g0131 a0001c0001t0015g0201 others(3): Show |
6 | 10 | 0.6000 | -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 | TCACACA | T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036 a0001c0001t0002g0037 a0001c0001t0002g0089 |
3 | 35 | 0.0857 | -6 | c.959 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 4/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57192058 | ATATATT | A | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01167.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0109 others(9): Show |
12 | 270 | 0.0444 | -6 | c.761 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57207811 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(103): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0051 others(100): Show |
106 | 184 | 0.5761 | -6 | c.612 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57209243 | ATATTTT | A | intron_variant | MODIFIER | HG01496.hp1 HG02148.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0008a0001c0007t0002 | a0001c0001t0001g0185 a0001c0001t0001g0206 a0001c0001t0001g0217 others(2): Show |
5 | 270 | 0.0185 | -6 | c.612 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57209249 | TTATATA | T | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 NA18952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0171 a0001c0001t0003g0029 a0001c0002t0001g0016 |
3 | 96 | 0.0313 | -6 | c.612 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57215679 | GGCAGCT | G | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 others(19): Show |
23 | 270 | 0.0852 | -6 | c.611 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57232852 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01433.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0057 others(22): Show |
26 | 91 | 0.2857 | -6 | c.419 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39494346 | TTTTTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02109.hp2 others(12): Show |
a0004a0007a0008 | a0004c0004a0007c0016a0008c0010others(1): Show | a0004c0004t0004a0007c0016t0014a0008c0010t0004others(1): Show | a0004c0004t0004g0011 a0004c0004t0004g0029 a0004c0004t0004g0100 others(7): Show |
15 | 360 | 0.0417 | -6 | c.334 others(23): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34020859 | AACACAC | A | intron_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0001a0001c0001t0022a0001c0001t0031others(2): Show | a0001c0001t0001g0230 a0001c0001t0022g0228 a0001c0001t0031g0229 others(2): Show |
5 | 99 | 0.0505 | -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 | 34024384 | AATATAT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01261.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0016 | a0001c0002t0004g0177 a0001c0002t0004g0178 a0001c0002t0005g0072 others(1): Show |
4 | 27 | 0.1481 | -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 | 34031883 | CATATAT | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00642.hp1 others(43): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0095 a0001c0001t0001g0122 a0001c0001t0001g0130 others(43): Show |
46 | 122 | 0.3770 | -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 | 34031923 | TATATAC | T | intron_variant | MODIFIER | HG02717.hp2 NA19043.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0030 | a0001c0003t0001g0172 a0001c0004t0030g0003 |
2 | 204 | 0.0098 | -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 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG02647.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0023 a0001c0001t0003g0110 a0001c0001t0003g0210 others(14): Show |
17 | 93 | 0.1828 | -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 | 34063379 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0001others(2): Show | a0001c0001t0001g0138 a0001c0001t0017g0101 a0001c0002t0001g0039 others(2): Show |
5 | 136 | 0.0368 | -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 | 34065199 | ACTCACT | A | intron_variant | MODIFIER | HG00438.hp1 HG02451.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0004 | a0001c0001t0001g0192 a0001c0001t0003g0215 a0001c0004t0004g0017 |
3 | 170 | 0.0176 | -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 | ACTCTCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00642.hp2 others(29): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0095 others(29): Show |
32 | 91 | 0.3516 | -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 | 34113620 | TTAATAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0046 others(130): Show |
133 | 228 | 0.5833 | -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 | 34129577 | GGAGAGA | G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01167.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0058 a0001c0001t0002g0157 a0001c0001t0003g0139 others(12): Show |
15 | 169 | 0.0888 | -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 | 34129604 | GAGAGAA | G | intron_variant | MODIFIER | HG03492.hp1 NA18983.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0002c0006t0001 | a0001c0001t0002g0169 a0002c0006t0001g0141 |
2 | 211 | 0.0095 | -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 | 34130186 | GTCTCTC | G | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0001g0230 a0001c0001t0003g0106 a0001c0001t0013g0022 others(9): Show |
12 | 54 | 0.2222 | -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 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0024others(10): Show | a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0023 others(25): Show |
28 | 128 | 0.2188 | -6 | c.*46 others(17): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 1539 | chr7 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86790111 | TTGCCAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(99): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(29): Show | a0001c0002t0003g0049 a0001c0002t0003g0062 a0001c0002t0003g0066 others(99): Show |
102 | 276 | 0.3696 | -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 | 86794386 | ATGCTTG | A | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0052 | a0001c0002t0010g0170 a0001c0002t0010g0171 a0001c0002t0010g0200 others(1): Show |
4 | 276 | 0.0145 | -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 | 86794808 | TTATCTA | T | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0063a0001c0002t0066a0001c0002t0069others(3): Show | a0001c0002t0063g0209 a0001c0002t0066g0206 a0001c0002t0069g0207 others(3): Show |
6 | 276 | 0.0217 | -6 | c.-26 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94757918 | TGGCGGC | T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02080.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(10): Show |
13 | 94 | 0.1383 | -6 | c.-33 others(15): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 36 | chr4 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94761415 | CTGTGTG | C | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01361.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0066 a0001c0001t0001g0214 a0001c0001t0001g0218 others(25): Show |
28 | 72 | 0.3889 | -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 | 94767367 | AATTAAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02809.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0052 | a0001c0001t0005g0013 a0001c0001t0007g0012 a0001c0001t0052g0134 |
3 | 224 | 0.0134 | -6 | c.-18 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |