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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLK_chr8_11489387_11569599 | 11504367 | G | GAAAAGAA others(4): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 308 | 0.0033 | 11 | c.-2+ others(26): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90789985 | G | GTGTTTTT others(4): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 280 | 0.0036 | 11 | c.282 others(28): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96194768 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0288 | 1 | 322 | 0.0031 | 11 | c.125 others(30): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 16/16 | chr10 | TogoVar | ||||||
BLOC1S1_chr12_55711046_55724703 | 55714517 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02683.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0025others(1): Show | 4 | 410 | 0.0098 | 11 | c.-15 others(22): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 1528 | chr12 | TogoVar | ||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | ATTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 4 | 426 | 0.0094 | 11 | c.*34 others(20): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 355 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
BLOC1S3_chr19_45173784_45186800 | 45184903 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 426 | 0.0024 | 11 | c.*49 others(22): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 3104 | chr19 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8030865 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01069.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0039others(17): Show | 23 | 364 | 0.0632 | 11 | c.326 others(28): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8041655 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02976.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0174a0001c0001t0006g0196a0001c0001t0006g0197others(1): Show | 4 | 364 | 0.0110 | 11 | c.196 others(26): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8041655 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02056.hp1 HG02080.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0251a0001c0001t0003g0209a0001c0001t0004g0010others(10): Show | 15 | 364 | 0.0412 | 11 | c.196 others(26): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122262148 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0032 | 1 | 336 | 0.0030 | 11 | c.676 others(28): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 42/87 | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG02280.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0330a0001c0001t0001g0331a0001c0017t0001g0295 | 3 | 336 | 0.0089 | 11 | c.749 others(28): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03139.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0119a0001c0001t0001g0159others(1): Show | 4 | 336 | 0.0119 | 11 | c.109 others(32): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34788946 | A | ACCTGTGG others(4): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0270 | 2 | 312 | 0.0064 | 11 | c.-33 others(22): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 3136 | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0095 | 1 | 312 | 0.0032 | 11 | c.44+ others(26): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18960.hp2 NA18972.hp1 others(3): Show |
a0002 | a0002c0002a0002c0032 | a0002c0002t0002a0002c0032t0002 | a0002c0002t0002g0055a0002c0002t0002g0056a0002c0002t0002g0058others(3): Show | 6 | 312 | 0.0192 | 11 | c.45- others(28): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34847921 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(33): Show |
a0003a0007a0012others(2): Show | a0003c0003a0003c0022a0003c0027others(4): Show | a0003c0003t0003a0003c0003t0009a0003c0003t0011others(11): Show | a0003c0003t0003g0004a0003c0003t0003g0107a0003c0003t0003g0108others(33): Show | 36 | 312 | 0.1154 | 11 | c.103 others(30): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34847922 | T | TTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0005 | a0005c0005 | a0005c0005t0021 | a0005c0005t0021g0116 | 1 | 312 | 0.0032 | 11 | c.103 others(30): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 188 | 0.0053 | 11 | c.45- others(28): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100124979 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0175 | 2 | 188 | 0.0106 | 11 | c.45- others(28): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100135281 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(12): Show |
a0001a0003 | a0001c0025a0003c0002 | a0001c0025t0001a0003c0002t0001 | a0001c0025t0001g0092a0003c0002t0001g0030a0003c0002t0001g0035others(12): Show | 15 | 188 | 0.0798 | 11 | c.44+ others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140721 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 188 | 0.0053 | 11 | c.44+ others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0001 | 1 | 188 | 0.0053 | 11 | c.44+ others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0107 | 1 | 188 | 0.0053 | 11 | c.44+ others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100142959 | C | CGGGCTCT others(4): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01109.hp2 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0004a0002c0003a0003c0002others(5): Show | a0001c0004t0001a0002c0003t0001a0003c0002t0001others(5): Show | a0001c0004t0001g0028a0001c0004t0001g0029a0001c0004t0001g0040others(19): Show | 22 | 188 | 0.1170 | 11 | c.-32 others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 86 | chr12 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284267 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 314 | 0.0032 | 11 | c.-26 others(30): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13314229 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 314 | 0.0032 | 11 | c.-19 others(30): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0257 | 2 | 314 | 0.0064 | 11 | c.-18 others(28): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13364832 | T | TTGTCTCA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(89): Show | 93 | 314 | 0.2962 | 11 | c.460 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27347242 | G | GTGTGACA others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0218 | 1 | 310 | 0.0032 | 11 | c.31+ others(28): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0183a0001c0001t0002g0184a0001c0001t0003g0010others(4): Show | 7 | 291 | 0.0241 | 11 | c.106 others(28): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15591629 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0101a0001c0001t0005g0011a0001c0001t0005g0079others(1): Show | 4 | 291 | 0.0138 | 11 | c.*48 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3371 | chr16 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0396 | 1 | 418 | 0.0024 | 11 | c.148 others(26): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165926 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 418 | 0.0024 | 11 | c.148 others(26): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22183591 | A | ATTATTAT others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0386 | 1 | 418 | 0.0024 | 11 | c.107 others(30): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0398 | 1 | 408 | 0.0025 | 11 | c.148 others(26): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165926 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 408 | 0.0025 | 11 | c.148 others(26): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22183591 | A | ATTATTAT others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0383 | 1 | 408 | 0.0025 | 11 | c.107 others(30): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78872303 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0011 | a0011c0026 | a0011c0026t0025 | a0011c0026t0025g0109 | 1 | 204 | 0.0049 | 11 | c.160 others(28): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78882365 | C | CCTGTTCT others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 NA18522.hp1 |
a0008a0011 | a0008c0014a0011c0026 | a0008c0014t0023a0008c0014t0024a0011c0026t0025 | a0008c0014t0023g0111a0008c0014t0024g0110a0011c0026t0025g0109 | 3 | 204 | 0.0147 | 11 | c.195 others(30): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 464 | 0.0022 | 11 | c.-7- others(24): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81032194 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0069a0001c0001t0007g0032 | 3 | 382 | 0.0079 | 11 | c.316 others(26): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP3_chr4_81025708_81062627 | 81043590 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02486.hp2 HG02647.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0011 | a0002c0002t0002g0133a0002c0002t0003g0150a0002c0002t0011g0108others(2): Show | 5 | 382 | 0.0131 | 11 | c.317 others(28): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP5_chr6_55748653_55880590 | 55823879 | G | GGAATATT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0019others(6): Show | a0001c0001t0002g0195a0001c0001t0002g0219a0001c0001t0002g0250others(25): Show | 28 | 320 | 0.0875 | 11 | c.491 others(28): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813086 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG02083.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0061a0001c0001t0001g0123others(5): Show | 8 | 308 | 0.0260 | 11 | c.665 others(30): 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(4): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03453.hp2 NA18906.hp1 |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0014a0002c0003t0005a0003c0005t0006 | a0001c0002t0014g0072a0002c0003t0005g0302a0003c0005t0006g0023 | 3 | 308 | 0.0097 | 11 | c.665 others(30): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0070a0001c0001t0014g0071 | 2 | 308 | 0.0065 | 11 | c.665 others(30): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129609 | A | AGAGAGAG others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0086 | 1 | 232 | 0.0043 | 11 | c.174 others(32): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86765989 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(76): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(19): Show | a0001c0002t0003g0065a0001c0002t0003g0068a0001c0002t0003g0069others(75): Show | 79 | 278 | 0.2842 | 11 | c.-26 others(30): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790162 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0234 | 1 | 278 | 0.0036 | 11 | c.-26 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86797247 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0063a0001c0002t0069a0001c0002t0072others(3): Show | a0001c0002t0063g0213a0001c0002t0069g0212a0001c0002t0072g0162others(4): Show | 7 | 278 | 0.0252 | 11 | c.-26 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |