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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC6_chr2_32352023_32623878 | 32538919 | AAATGAAT others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0097a0001c0015t0001g0105 | 2 | 274 | 0.0073 | -12 | c.122 others(33): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32553197 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG02109.hp1 others(8): Show |
a0001a0013 | a0001c0003a0001c0008a0001c0013others(2): Show | a0001c0003t0003a0001c0003t0009a0001c0008t0003others(3): Show | a0001c0003t0003g0023a0001c0003t0003g0033a0001c0003t0003g0058others(8): Show | 11 | 274 | 0.0402 | -12 | c.131 others(33): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32608562 | GTGGCACC others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0007a0001c0030 | a0001c0007t0004a0001c0007t0007a0001c0030t0004 | a0001c0007t0004g0017a0001c0007t0004g0018a0001c0007t0004g0019others(4): Show | 7 | 274 | 0.0256 | -12 | c.142 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 72/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11492272 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0003others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0251a0001c0001t0003g0253others(36): Show | 43 | 308 | 0.1396 | -12 | c.-23 others(23): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 2114 | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11510774 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0008a0001c0001t0009a0001c0004t0004others(2): Show | a0001c0001t0008g0204a0001c0001t0009g0236a0001c0004t0004g0237others(3): Show | 6 | 308 | 0.0195 | -12 | c.-2+ others(29): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11520476 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0101 | 1 | 308 | 0.0033 | -12 | c.-1- others(29): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11535261 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02683.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0200a0001c0001t0002g0067a0001c0001t0005g0079others(4): Show | 7 | 308 | 0.0227 | -12 | c.-1- others(27): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11560337 | ACATGGAT others(5): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 308 | 0.0033 | -12 | c.103 others(29): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLMH_chr17_30243203_30296944 | 30291954 | TCGGCGGC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 298 | 0.0034 | -12 | c.-14 others(21): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11 | chr17 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90734694 | CGCAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0016 | 1 | 280 | 0.0036 | -12 | c.-4- others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90787036 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG04115.hp1 NA18940.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0029a0004c0006t0002g0030a0004c0006t0002g0031others(3): Show | 6 | 280 | 0.0214 | -12 | c.282 others(31): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90789987 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02965.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0002a0004c0012t0002 | a0001c0001t0002g0003a0001c0001t0002g0079a0001c0001t0002g0246others(1): Show | 4 | 280 | 0.0143 | -12 | c.282 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90797414 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198a0001c0001t0002g0242 | 2 | 280 | 0.0071 | -12 | c.321 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96212337 | GAATAATA others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0021a0001c0003t0013others(2): Show | a0001c0001t0002g0292a0001c0001t0021g0313a0001c0003t0013g0040others(3): Show | 6 | 322 | 0.0186 | -12 | c.677 others(29): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 8/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96227140 | GTTGTTTG others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0002t0015a0001c0002t0034 | a0001c0001t0044g0312a0001c0002t0015g0304a0001c0002t0034g0195 | 3 | 322 | 0.0093 | -12 | c.361 others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 5/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96232914 | AAGCGATC others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0127a0001c0001t0001g0137others(3): Show | 6 | 322 | 0.0186 | -12 | c.164 others(29): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 3/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96243579 | TGAGTGTC others(5): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0126 | 1 | 322 | 0.0031 | -12 | c.114 others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 2/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96254508 | TTGTTTTG others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01106.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0027a0001c0002t0001others(4): Show | a0001c0001t0010g0273a0001c0001t0027g0058a0001c0002t0001g0054others(7): Show | 10 | 322 | 0.0311 | -12 | c.48- others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96273760 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 322 | 0.0031 | -12 | c.-23 others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 2192 | chr10 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8022568 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0031a0001c0001t0002g0066a0001c0001t0002g0084others(68): Show | 81 | 364 | 0.2225 | -12 | c.384 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8047158 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0161a0001c0001t0001g0172others(1): Show | 5 | 364 | 0.0137 | -12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01070.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0001g0140a0001c0001t0001g0163a0001c0001t0001g0164others(21): Show | 24 | 364 | 0.0659 | -12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S6_chr15_45582379_45614708 | 45610177 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 10 | 362 | 0.0276 | -12 | c.*36 others(23): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 470 | chr15 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122216085 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00738.hp2 others(24): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0125others(24): Show | 27 | 336 | 0.0804 | -12 | c.224 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122288651 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02055.hp2 others(16): Show |
a0001a0003a0008others(2): Show | a0001c0001a0003c0006a0008c0021others(2): Show | a0001c0001t0001a0003c0006t0001a0008c0021t0010others(3): Show | a0001c0001t0001g0298a0001c0001t0001g0304a0003c0006t0001g0009others(16): Show | 19 | 336 | 0.0566 | -12 | c.928 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 53/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122290812 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 336 | 0.0030 | -12 | c.938 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122321979 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 336 | 0.0030 | -12 | c.109 others(33): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP2_chr17_28609446_28650158 | 28625334 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 310 | 0.0032 | -12 | c.459 others(29): Show |
BLTP2 | ENSG00000007202.16 | transcript | ENST00000528896.7 | protein_coding | 24/38 | chr17 | TogoVar | ||||||
BLTP2_chr17_28609446_28650158 | 28625353 | AAAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 310 | 0.0032 | -12 | c.459 others(29): Show |
BLTP2 | ENSG00000007202.16 | transcript | ENST00000528896.7 | protein_coding | 24/38 | chr17 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34798578 | TTAATTTT others(5): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0004 | a0004c0004 | a0004c0004t0032 | a0004c0004t0032g0161 | 1 | 312 | 0.0032 | -12 | c.44+ others(27): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34801701 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(163): Show |
a0002a0003a0004others(13): Show | a0002c0002a0002c0032a0003c0003others(19): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0036others(48): Show | a0002c0002t0002g0047a0002c0002t0002g0048a0002c0002t0002g0049others(163): Show | 166 | 312 | 0.5321 | -12 | c.44+ others(27): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34869640 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(42): Show |
a0001a0004a0011others(2): Show | a0001c0001a0001c0016a0004c0004others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(7): Show | a0001c0001t0004g0181a0001c0001t0004g0182a0001c0001t0004g0183others(41): Show | 45 | 312 | 0.1442 | -12 | c.371 others(31): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100071497 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0006 | 1 | 188 | 0.0053 | -12 | c.154 others(31): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 12/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100074059 | AGGAAAAG others(5): Show |
A | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 188 | 0.0053 | -12 | c.140 others(31): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 11/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100084378 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG02015.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(3): Show | a0001c0001t0001g0100a0002c0003t0001g0007a0002c0003t0001g0010others(11): Show | 14 | 188 | 0.0745 | -12 | c.128 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 10/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100104884 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01361.hp1 others(1): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0093a0003c0002t0001g0094a0003c0002t0001g0096others(1): Show | 4 | 188 | 0.0213 | -12 | c.208 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100109159 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01496.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0113a0001c0001t0001g0136a0001c0004t0001g0029others(7): Show | 10 | 188 | 0.0532 | -12 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG03710.hp2 HG04184.hp2 NA20129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0058a0001c0001t0001g0075a0001c0001t0001g0110others(1): Show | 4 | 188 | 0.0213 | -12 | c.45- others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100124968 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 188 | 0.0053 | -12 | c.45- others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0153 | 1 | 188 | 0.0053 | -12 | c.44+ others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100131023 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0013 | a0013c0030 | a0013c0030t0001 | a0013c0030t0001g0002 | 1 | 188 | 0.0053 | -12 | c.44+ others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448608 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01361.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0041a0001c0001t0001g0071others(28): Show | 34 | 362 | 0.0939 | -12 | c.464 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40450842 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 362 | 0.0028 | -12 | c.463 others(27): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169375393 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 NA19011.hp1 NA19090.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0022a0004c0004t0002g0022 | 3 | 366 | 0.0082 | -12 | c.29- others(27): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284106 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02165.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0025others(5): Show | 8 | 314 | 0.0255 | -12 | c.-26 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284152 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 314 | 0.0032 | -12 | c.-26 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13284230 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0027a0001c0001t0001g0034others(51): Show | 55 | 314 | 0.1752 | -12 | c.-26 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13363127 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0134a0001c0001t0001g0184others(1): Show | 4 | 314 | 0.0127 | -12 | c.460 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27349447 | AGGAGTTC others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA18951.hp2 NA18957.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0275others(4): Show | 7 | 310 | 0.0226 | -12 | c.31+ others(29): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27397066 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 310 | 0.0032 | -12 | c.920 others(29): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |