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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCKDHA_chr19_41392818_41430002 | 41412380 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0193 others(3): Show |
6 | 135 | 0.0444 | 23 | c.375 others(40): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | AATATATA others(16): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0117 | 1 | 219 | 0.0046 | 23 | c.-43 others(34): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 HG03453.hp2 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0023 a0002c0002t0003g0046 |
3 | 221 | 0.0136 | 23 | c.-43 others(34): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0046 | 1 | 219 | 0.0046 | 23 | c.-43 others(34): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L11_chr2_111115914_111173444 | 111152829 | A | AATAAGAT others(16): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 396 | 0.0025 | 23 | c.498 others(40): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0248 | 1 | 88 | 0.0114 | 23 | c.229 others(40): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17717380 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01261.hp2 HG02071.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0006a0001c0001t0009a0001c0002t0006others(4): Show | a0001c0001t0006g0077 a0001c0001t0009g0039 a0001c0002t0006g0071 others(13): Show |
16 | 226 | 0.0708 | 23 | c.601 others(40): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31697892 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19030.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0162 a0001c0001t0003g0177 |
2 | 68 | 0.0294 | 23 | c.564 others(42): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL3_chr19_44743708_44765044 | 44759321 | C | CCAGACCC others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp2 others(75): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0162 a0001c0001t0003g0012 others(51): Show |
78 | 342 | 0.2281 | 23 | c.117 others(38): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44759342 | C | CCTCAGAC others(16): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02970.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 a0001c0001t0003g0077 a0001c0001t0003g0104 |
3 | 342 | 0.0088 | 23 | c.117 others(38): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81248405 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0010 a0002c0004t0001g0012 |
2 | 4 | 0.5000 | 23 | c.193 others(40): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043784 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 136 | 0.0074 | 23 | c.484 others(42): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02698.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0064 |
2 | 147 | 0.0136 | 23 | c.484 others(42): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133422791 | C | CAGAATAT others(16): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 274 | 0.0036 | 23 | c.489 others(42): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425825 | A | AGAAGGGA others(16): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 274 | 0.0036 | 23 | c.490 others(42): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32118093 | T | TTTATTTT others(16): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0093 | 1 | 288 | 0.0035 | 23 | c.213 others(42): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD2_chr9_92706363_92769833 | 92757312 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0291 | 1 | 115 | 0.0087 | 23 | c.240 others(40): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42814520 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 245 | 0.0041 | 23 | c.-6+ others(38): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0024a0002c0003t0004 | a0001c0001t0024g0116 a0002c0003t0004g0040 |
2 | 182 | 0.0110 | 23 | c.225 others(40): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32508276 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 22 | 0.0455 | 23 | c.998 others(38): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32553197 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0041 | a0002c0041t0001 | a0002c0041t0001g0114 | 1 | 14 | 0.0714 | 23 | c.131 others(44): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 54 | 0.0185 | 23 | c.103 others(42): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11504367 | G | GGAAGGAA others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0008others(1): Show | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0121 others(3): Show |
6 | 112 | 0.0536 | 23 | c.-2+ others(38): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18941.hp2 NA18991.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0259 a0001c0001t0001g0264 a0002c0004t0001g0127 |
3 | 13 | 0.2308 | 23 | c.109 others(44): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0029 | 1 | 102 | 0.0098 | 23 | c.44+ others(38): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0052 | 1 | 102 | 0.0098 | 23 | c.44+ others(38): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02735.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0243 a0001c0001t0004g0214 a0001c0002t0001g0157 others(1): Show |
4 | 18 | 0.2222 | 23 | c.106 others(40): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40106517 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 57 | 0.0175 | 23 | c.-5- others(36): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55841942 | G | GAGAGAGA others(16): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 318 | 0.0031 | 23 | c.491 others(42): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0276 | 1 | 97 | 0.0103 | 23 | c.665 others(42): 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(16): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0152 | 1 | 97 | 0.0103 | 23 | c.665 others(42): 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(16): Show |
intron_variant | MODIFIER | NA19079.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0125 a0001c0002t0002g0197 |
2 | 98 | 0.0204 | 23 | c.665 others(42): 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(16): Show |
intron_variant | MODIFIER | HG02148.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0175 a0001c0001t0015g0201 |
2 | 98 | 0.0204 | 23 | c.665 others(42): 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(16): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 97 | 0.0103 | 23 | c.665 others(42): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0002 | 1 | 97 | 0.0103 | 23 | c.665 others(42): 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(16): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02738.hp1 |
a0001a0003 | a0001c0001a0003c0017 | a0001c0001t0013a0003c0017t0006 | a0001c0001t0013g0054 a0003c0017t0006g0024 |
2 | 42 | 0.0476 | 23 | c.858 others(40): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7882046 | C | CCAGAGCA others(16): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0057 | 1 | 306 | 0.0033 | 23 | c.*17 others(34): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 319 | chr6 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57243923 | A | AGGAGCAG others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03688.hp2 |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0027 | a0001c0003t0015g0265 a0001c0003t0027g0266 |
2 | 270 | 0.0074 | 23 | c.419 others(42): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 34024357 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0006 | 1 | 104 | 0.0096 | 23 | c.577 others(42): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94770182 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01981.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0152 a0001c0001t0003g0098 a0001c0001t0005g0151 others(1): Show |
4 | 168 | 0.0238 | 23 | c.-18 others(44): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95026159 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0217 | 1 | 224 | 0.0045 | 23 | c.-18 others(42): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG03654.hp2 HG03669.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 a0001c0002t0002g0109 |
2 | 13 | 0.1538 | 23 | c.76+ others(38): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTT others(16): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0030 | 1 | 12 | 0.0833 | 23 | c.76+ others(38): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 136 | 0.0074 | 23 | c.77- others(40): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01361.hp1 HG04184.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0002 | a0001c0001t0003g0012 a0001c0001t0006g0105 a0001c0002t0002g0067 |
3 | 138 | 0.0217 | 23 | c.77- others(40): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 a0001c0001t0003g0209 |
2 | 137 | 0.0146 | 23 | c.77- others(40): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
BMPR2_chr2_202371327_202572749 | 202572271 | A | ATTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 3 | 0.3333 | 23 | c.*12 others(36): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 4523 | chr2 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16555031 | A | ATTTTTTC others(16): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0084 | 1 | 156 | 0.0064 | 23 | c.434 others(40): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16781246 | G | GATCTGGA others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(154): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0034 others(154): Show |
157 | 174 | 0.9023 | 23 | c.4-4 others(38): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BOLL_chr2_197721890_197790319 | 197757497 | A | ACCATATA others(16): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 a0001c0001t0003g0042 |
2 | 326 | 0.0061 | 23 | c.553 others(37): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 7/10 | chr2 | TogoVar |