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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLOC1S5_chr6_8008567_8069389 | 8013216 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(147): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(142): Show | 150 | 364 | 0.4121 | 5 | c.*24 others(16): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 350 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8022575 | T | TTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(72): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(66): Show | 75 | 364 | 0.2060 | 5 | c.384 others(22): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
BLOC1S6_chr15_45582379_45614708 | 45589838 | A | AAAAAC | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01167.hp1 others(46): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0003g0012a0001c0001t0003g0018a0001c0001t0003g0030others(26): Show | 49 | 362 | 0.1354 | 5 | c.83- others(20): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122200583 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01257.hp2 others(27): Show |
a0001a0003a0008others(3): Show | a0001c0005a0001c0007a0001c0019others(6): Show | a0001c0005t0001a0001c0007t0001a0001c0019t0001others(6): Show | a0001c0005t0001g0105a0001c0005t0001g0107a0001c0005t0001g0108others(26): Show | 30 | 336 | 0.0893 | 5 | c.138 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122236691 | A | AATATT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02257.hp1 others(11): Show |
a0001a0011 | a0001c0007a0011c0040a0011c0041 | a0001c0007t0001a0011c0040t0001a0011c0041t0001 | a0001c0007t0001g0157a0001c0007t0001g0238a0001c0007t0001g0239others(11): Show | 14 | 336 | 0.0417 | 5 | c.357 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 27/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122251218 | G | GTAATA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(37): Show |
a0001a0004a0014 | a0001c0001a0001c0003a0001c0023others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(5): Show | a0001c0001t0001g0221a0001c0003t0001g0177a0001c0003t0001g0178others(37): Show | 40 | 336 | 0.1191 | 5 | c.592 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 37/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122276980 | T | TTAATG | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01361.hp2 others(28): Show |
a0001a0003a0009others(1): Show | a0001c0007a0003c0006a0009c0011others(2): Show | a0001c0007t0001a0003c0006t0001a0009c0011t0001others(3): Show | a0001c0007t0001g0157a0001c0007t0001g0238a0001c0007t0001g0239others(28): Show | 31 | 336 | 0.0923 | 5 | c.859 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 50/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122327099 | G | GTGTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(192): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(28): Show | a0001c0001t0001g0102a0001c0001t0001g0119a0001c0001t0001g0122others(190): Show | 195 | 336 | 0.5804 | 5 | c.112 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 67/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02615.hp1 others(10): Show |
a0003a0006a0007others(3): Show | a0003c0003a0006c0008a0007c0007others(3): Show | a0003c0003t0021a0006c0008t0013a0007c0007t0019others(5): Show | a0003c0003t0021g0112a0006c0008t0013g0153a0006c0008t0013g0154others(10): Show | 13 | 312 | 0.0417 | 5 | c.44+ others(20): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01261.hp2 others(13): Show |
a0003a0004a0005others(2): Show | a0003c0003a0004c0004a0004c0015others(3): Show | a0003c0003t0003a0003c0003t0009a0003c0003t0012others(7): Show | a0003c0003t0003g0102a0003c0003t0003g0105a0003c0003t0003g0106others(13): Show | 16 | 312 | 0.0513 | 5 | c.45- others(22): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34829027 | C | CAAAAA | intron_variant | MODIFIER | HG01261.hp2 HG02080.hp2 HG02145.hp2 others(4): Show |
a0003a0005a0007 | a0003c0003a0005c0005a0007c0007 | a0003c0003t0003a0003c0003t0011a0005c0005t0007others(2): Show | a0003c0003t0003g0106a0003c0003t0003g0111a0003c0003t0003g0133others(4): Show | 7 | 312 | 0.0224 | 5 | c.339 others(22): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34846077 | T | TCCCTC | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01069.hp1 others(26): Show |
a0002a0004 | a0002c0002a0004c0004a0004c0015others(1): Show | a0002c0002t0002a0002c0002t0036a0004c0004t0005others(12): Show | a0002c0002t0002g0084a0002c0002t0036g0095a0004c0004t0005g0006others(26): Show | 29 | 312 | 0.0930 | 5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34852533 | C | CCCTCT | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00609.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0180a0001c0001t0001g0195a0001c0001t0001g0235others(34): Show | 38 | 312 | 0.1218 | 5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34869640 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG02083.hp2 HG02647.hp2 others(4): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0011a0004c0004t0005a0004c0004t0011others(1): Show | a0003c0003t0011g0121a0004c0004t0005g0008a0004c0004t0005g0012others(4): Show | 7 | 312 | 0.0224 | 5 | c.371 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100112659 | G | GCAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01109.hp2 others(38): Show |
a0001a0002a0004others(5): Show | a0001c0004a0001c0025a0002c0003others(7): Show | a0001c0004t0001a0001c0025t0001a0002c0003t0001others(7): Show | a0001c0004t0001g0028a0001c0004t0001g0029a0001c0004t0001g0040others(38): Show | 41 | 188 | 0.2181 | 5 | c.45- others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100112858 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 NA18942.hp2 others(2): Show |
a0001a0012 | a0001c0001a0012c0028 | a0001c0001t0001a0012c0028t0001 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(2): Show | 5 | 188 | 0.0266 | 5 | c.45- others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100118388 | T | TCAAAA | intron_variant | MODIFIER | HG03942.hp2 NA20752.hp1 NA20752.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0027a0001c0001t0001g0175a0003c0002t0001g0160 | 3 | 188 | 0.0160 | 5 | c.45- others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100131034 | A | AGAGAG | intron_variant | MODIFIER | HG01981.hp2 HG03831.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0130a0006c0007t0001g0149 | 2 | 188 | 0.0106 | 5 | c.44+ others(22): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRA_chr7_43753680_43812342 | 43759988 | A | ATTTTT | intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 HG02015.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0247a0001c0002t0002g0009a0001c0002t0002g0012others(10): Show | 18 | 414 | 0.0435 | 5 | c.-22 others(22): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BLVRB_chr19_40442768_40470745 | 40459327 | C | CAAAAA | intron_variant | MODIFIER | HG02897.hp2 HG02976.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0049a0001c0001t0001g0050others(2): Show | 7 | 362 | 0.0193 | 5 | c.80- others(18): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40460611 | A | ATAAAT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0031others(58): Show | 71 | 362 | 0.1961 | 5 | c.80- others(20): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40460972 | C | CAAACA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0163a0001c0001t0001g0201a0001c0001t0001g0202others(54): Show | 57 | 362 | 0.1575 | 5 | c.80- others(20): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288429 | T | TTTTTC | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00673.hp2 others(94): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(92): Show | 97 | 314 | 0.3089 | 5 | c.-26 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27351790 | A | ATGCCC | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02300.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0002g0002others(10): Show | 14 | 310 | 0.0452 | 5 | c.32- others(22): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(97): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0032others(94): Show | 100 | 310 | 0.3226 | 5 | c.32- others(20): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27428818 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02132.hp2 HG02723.hp1 HG03041.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0022 | a0001c0001t0001g0011a0001c0001t0001g0037a0001c0001t0001g0106others(7): Show | 11 | 310 | 0.0355 | 5 | c.*82 others(16): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 3533 | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15512012 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0041a0001c0001t0001g0231others(9): Show | 12 | 291 | 0.0412 | 5 | c.107 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15517680 | G | GCTGCT | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(140): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(140): Show | 143 | 291 | 0.4914 | 5 | c.230 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15591629 | A | ACACAC | downstream_gene_variant | MODIFIER | HG03540.hp1 NA20129.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005a0001c0001t0005g0124a0001c0001t0005g0289 | 3 | 291 | 0.0103 | 5 | c.*48 others(16): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3371 | chr16 | TogoVar | ||||||
BMP15_chrX_50905735_50921641 | 50911537 | A | AAGCTT | intron_variant | MODIFIER | NA19059.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0040 | 1 | 294 | 0.0034 | 5 | c.328 others(20): Show |
BMP15 | ENSG00000130385.6 | transcript | ENST00000252677.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BMP1_chr8_22160372_22206482 | 22189461 | C | CATCTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191a0001c0001t0001g0241a0001c0001t0001g0341others(6): Show | 10 | 418 | 0.0239 | 5 | c.107 others(24): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP1_chr8_22160372_22217326 | 22189461 | C | CATCTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0008t0001 | a0001c0001t0001g0146a0001c0001t0001g0178a0001c0001t0001g0232others(7): Show | 10 | 408 | 0.0245 | 5 | c.107 others(24): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78827760 | A | AAAAAC | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02559.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0008a0003c0005t0009 | a0003c0005t0008g0021a0003c0005t0009g0001a0003c0005t0009g0020 | 4 | 204 | 0.0196 | 5 | c.297 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829753 | A | ATCTTT | intron_variant | MODIFIER | HG00423.hp1 NA19074.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0086a0004c0003t0001g0091 | 2 | 204 | 0.0098 | 5 | c.297 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTC | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG02080.hp2 others(9): Show |
a0001a0004a0010 | a0001c0001a0004c0003a0010c0013 | a0001c0001t0001a0004c0003t0001a0010c0013t0001 | a0001c0001t0001g0046a0001c0001t0001g0077a0001c0001t0001g0085others(9): Show | 12 | 204 | 0.0588 | 5 | c.297 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78872303 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG03579.hp1 HG03927.hp2 others(4): Show |
a0001a0007a0015 | a0001c0001a0007c0008a0015c0016 | a0001c0001t0001a0001c0001t0003a0007c0008t0001others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0081a0001c0001t0003g0011others(4): Show | 7 | 204 | 0.0343 | 5 | c.160 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78916904 | T | TTTAGA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(63): Show |
a0001a0002a0006others(3): Show | a0001c0006a0001c0024a0002c0002others(4): Show | a0001c0006t0004a0001c0024t0022a0002c0002t0002others(7): Show | a0001c0006t0004g0045a0001c0006t0004g0141a0001c0006t0004g0142others(63): Show | 66 | 204 | 0.3235 | 5 | c.*48 others(16): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 540 | chr4 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81032194 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01109.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0074others(20): Show | 37 | 382 | 0.0969 | 5 | c.316 others(20): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP3_chr4_81025708_81062627 | 81043590 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp2 others(45): Show |
a0001a0005a0011 | a0001c0001a0001c0003a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(13): Show | a0001c0001t0001g0036a0001c0001t0001g0038a0001c0001t0001g0103others(31): Show | 48 | 382 | 0.1257 | 5 | c.317 others(22): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP5_chr6_55748653_55880590 | 55780456 | T | TAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(2): Show | a0001c0001t0001g0208a0001c0001t0001g0211a0001c0001t0003g0148others(4): Show | 7 | 320 | 0.0219 | 5 | c.833 others(22): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55853138 | T | TAAATA | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01346.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0154a0001c0001t0001g0259a0001c0001t0001g0271others(7): Show | 10 | 320 | 0.0313 | 5 | c.490 others(24): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7722445 | G | GTTTTT | upstream_gene_variant | MODIFIER | NA18963.hp1 NA18968.hp1 NA18986.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0083a0001c0001t0001g0158a0001c0001t0001g0179others(3): Show | 6 | 308 | 0.0195 | 5 | c.-45 others(16): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 3653 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7722447 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00673.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0033a0001c0001t0001g0037a0001c0001t0001g0038others(72): Show | 75 | 308 | 0.2435 | 5 | c.-45 others(16): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 3651 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7739672 | A | ATAACT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(253): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(253): Show | 256 | 308 | 0.8312 | 5 | c.664 others(24): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7759696 | C | CTTTTT | intron_variant | MODIFIER | HG02004.hp2 HG02145.hp1 HG02145.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0125a0001c0001t0002g0047a0001c0001t0003g0146others(10): Show | 13 | 308 | 0.0422 | 5 | c.664 others(24): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7856120 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(100): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(100): Show | 103 | 308 | 0.3344 | 5 | c.858 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57248783 | T | TTTTTG | intron_variant | MODIFIER | HG00280.hp1 HG01952.hp2 HG03688.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0016a0001c0003t0028 | a0001c0001t0002g0172a0001c0003t0016g0265a0001c0003t0028g0266 | 3 | 272 | 0.0110 | 5 | c.418 others(24): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57254017 | C | CTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0105others(3): Show | 6 | 272 | 0.0221 | 5 | c.418 others(24): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57254693 | T | TGGGGC | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0005g0121 | 3 | 272 | 0.0110 | 5 | c.418 others(24): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57265042 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0034a0001c0001t0001g0035others(133): Show | 139 | 272 | 0.5110 | 5 | c.418 others(20): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar |