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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIK_chr22_43105750_43134712 | 43130417 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01070.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0013others(27): Show | 66 | 386 | 0.1710 | -9 | c.*11 others(20): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 706 | chr22 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32431181 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0107a0001c0001t0001g0202a0001c0001t0001g0204others(5): Show | 8 | 274 | 0.0292 | -9 | c.324 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32508276 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0107a0001c0001t0001g0244a0001c0001t0001g0248others(4): Show | 7 | 274 | 0.0256 | -9 | c.998 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11528813 | AGGTGGAA others(2): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03098.hp2 HG03139.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0004a0001c0004t0013a0003c0008t0012 | a0001c0001t0004g0086a0001c0004t0013g0076a0001c0004t0013g0077others(3): Show | 6 | 308 | 0.0195 | -9 | c.-1- others(26): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90789987 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp1 HG01934.hp2 others(10): Show |
a0001a0002a0004 | a0001c0002a0001c0017a0002c0004others(1): Show | a0001c0002t0001a0001c0017t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0010a0001c0002t0001g0085a0001c0002t0001g0090others(10): Show | 13 | 280 | 0.0464 | -9 | c.282 others(26): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90805257 | CTATGTAT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(87): Show |
a0001a0002a0008 | a0001c0001a0001c0009a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0032a0001c0001t0001g0035others(87): Show | 90 | 280 | 0.3214 | -9 | c.375 others(26): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100087158 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG03195.hp1 others(2): Show |
a0009a0011a0020 | a0009c0021a0009c0027a0011c0011others(1): Show | a0009c0021t0001a0009c0027t0001a0011c0011t0001others(1): Show | a0009c0021t0001g0046a0009c0027t0001g0033a0011c0011t0001g0004others(2): Show | 5 | 188 | 0.0266 | -9 | c.102 others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 8/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100106588 | TGAAGACT others(2): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA19240.hp1 |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0023a0002c0010t0001g0024 | 2 | 188 | 0.0106 | -9 | c.207 others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100111277 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(12): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0030a0003c0002t0001g0031a0003c0002t0001g0034others(12): Show | 15 | 188 | 0.0798 | -9 | c.45- others(24): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284255 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02056.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0190a0001c0001t0001g0196others(6): Show | 9 | 314 | 0.0287 | -9 | c.-26 others(28): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284257 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02683.hp2 HG02735.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0211 | 3 | 314 | 0.0096 | -9 | c.-26 others(28): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284262 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0217others(45): Show | 48 | 314 | 0.1529 | -9 | c.-26 others(28): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13323489 | ATGAGGTC others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0013others(81): Show | 84 | 314 | 0.2675 | -9 | c.-18 others(28): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | chr11 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15543705 | CAGCTACT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01884.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0255a0001c0001t0003g0165a0001c0001t0003g0193others(16): Show | 19 | 291 | 0.0653 | -9 | c.231 others(28): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | chr16 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78870982 | ACAGCAGC others(2): Show |
A | disruptive_inframe_deletion | MODERATE | NA18954.hp2 NA19055.hp1 |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0079a0009c0009t0001g0095 | 2 | 204 | 0.0098 | -9 | c.145 others(18): Show |
p.Gln others(13): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 11/16 | 1646/8012 | 1452/3486 | 484/1161 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
BMP2K_chr4_78771350_78921365 | 78872303 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp1 others(6): Show |
a0005 | a0005c0004 | a0005c0004t0005a0005c0004t0016 | a0005c0004t0005g0024a0005c0004t0005g0026a0005c0004t0005g0027others(6): Show | 9 | 204 | 0.0441 | -9 | c.160 others(26): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78872321 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(16): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0012a0003c0005others(2): Show | a0001c0001t0006a0001c0012t0015a0003c0005t0008others(3): Show | a0001c0001t0006g0030a0001c0001t0006g0043a0001c0001t0006g0044others(15): Show | 19 | 204 | 0.0931 | -9 | c.160 others(26): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81032194 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018a0001c0001t0020others(4): Show | a0001c0001t0004g0010a0001c0001t0004g0051a0001c0001t0004g0053others(7): Show | 17 | 382 | 0.0445 | -9 | c.316 others(24): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7790514 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01515.hp1 HG01516.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(4): Show | a0001c0001t0001g0149a0001c0001t0009g0059a0001c0001t0009g0307others(8): Show | 11 | 308 | 0.0357 | -9 | c.665 others(28): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57221811 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(178): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0034others(175): Show | 181 | 272 | 0.6654 | -9 | c.611 others(26): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065239 | TCTCTCTC others(2): Show |
T | intron_variant | MODIFIER | HG02056.hp2 NA18991.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065a0001c0001t0001g0135a0001c0001t0001g0186others(1): Show | 4 | 232 | 0.0172 | -9 | c.107 others(28): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86799502 | CTTCCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(85): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(26): Show | a0001c0002t0003g0048a0001c0002t0003g0065a0001c0002t0003g0068others(85): Show | 88 | 278 | 0.3166 | -9 | 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 | 86835549 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0060a0002c0001t0001a0002c0001t0005 | a0001c0003t0060g0153a0002c0001t0001g0234a0002c0001t0005g0179others(3): Show | 6 | 278 | 0.0216 | -9 | c.-26 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86909590 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02572.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0033a0001c0002t0063others(8): Show | a0001c0002t0007g0192a0001c0002t0007g0269a0001c0002t0007g0271others(10): Show | 13 | 278 | 0.0468 | -9 | c.531 others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94757883 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0048a0001c0001t0001g0069a0001c0001t0001g0072others(33): Show | 36 | 226 | 0.1593 | -9 | c.-36 others(18): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 71 | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 94877798 | TAGAAGTG others(2): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(2): Show | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0002g0218others(5): Show | 8 | 226 | 0.0354 | -9 | c.-11 others(28): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94899356 | TTCAGGCC others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01192.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0146a0001c0001t0001g0163a0001c0001t0002g0043others(48): Show | 51 | 226 | 0.2257 | -9 | c.-11 others(30): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94962049 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0024a0001c0001t0051 | a0001c0001t0006g0115a0001c0001t0024g0133a0001c0001t0051g0135 | 3 | 226 | 0.0133 | -9 | c.-11 others(30): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95049419 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(5): Show | a0001c0001t0002g0119a0001c0001t0002g0224a0001c0001t0010g0018others(6): Show | 9 | 226 | 0.0398 | -9 | c.-18 others(28): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202376511 | AGGCGGCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020a0001c0001t0022others(1): Show | a0001c0001t0011g0043a0001c0001t0011g0083a0001c0001t0011g0159others(3): Show | 6 | 224 | 0.0268 | -9 | c.-93 others(18): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/13 | 928 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
BMPR2_chr2_202371327_202572749 | 202434901 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0113a0001c0001t0004g0212others(2): Show | 5 | 224 | 0.0223 | -9 | c.77- others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434903 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02056.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0035others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0128a0001c0001t0001g0164others(7): Show | 10 | 224 | 0.0446 | -9 | c.77- others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434905 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG01433.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0103a0001c0001t0001g0109others(18): Show | 21 | 224 | 0.0938 | -9 | c.77- others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434907 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(3): Show | 6 | 224 | 0.0268 | -9 | c.77- others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202508070 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0045a0001c0001t0049 | a0001c0001t0019g0010a0001c0001t0019g0011a0001c0001t0045g0032others(1): Show | 4 | 224 | 0.0179 | -9 | c.419 others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202541373 | GAGCTATG others(2): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0013 | a0001c0001t0005g0152a0001c0001t0005g0153a0001c0001t0005g0154others(9): Show | 12 | 224 | 0.0536 | -9 | c.127 others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202557506 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0050 | a0001c0001t0003g0026a0001c0001t0050g0017 | 2 | 224 | 0.0089 | -9 | c.286 others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BNIP1_chr5_173139531_173169387 | 173148084 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp2 HG03041.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0055a0001c0001t0001g0062a0001c0001t0001g0105others(3): Show | 6 | 352 | 0.0171 | -9 | c.177 others(26): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | chr5 | TogoVar | ||||||
BNIP3L_chr8_26378054_26418127 | 26384727 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0025 | a0001c0001t0004g0001a0001c0001t0004g0005a0001c0001t0004g0013others(26): Show | 57 | 406 | 0.1404 | -9 | c.100 others(26): Show |
BNIP3L | ENSG00000104765.16 | transcript | ENST00000380629.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BNIP3L_chr8_26378054_26418127 | 26415368 | TTACAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0010a0001c0001t0009g0157 | 6 | 406 | 0.0148 | -9 | c.*49 others(20): Show |
BNIP3L | ENSG00000104765.16 | transcript | ENST00000380629.7 | protein_coding | 2242 | chr8 | TogoVar | ||||||
BNIPL_chr1_151031586_151052720 | 151038000 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0012a0001c0001t0001g0055a0001c0001t0001g0056others(4): Show | 10 | 362 | 0.0276 | -9 | c.137 others(24): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113277338 | TGAAGGGT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0006a0001c0009 | a0001c0006t0013a0001c0006t0027a0001c0006t0051others(4): Show | a0001c0006t0013g0246a0001c0006t0013g0253a0001c0006t0013g0268others(8): Show | 11 | 386 | 0.0285 | -9 | c.154 others(26): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOD1L1_chr4_13563738_13632725 | 13575895 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02280.hp1 others(13): Show |
a0001a0005a0008others(2): Show | a0001c0001a0005c0005a0008c0009others(2): Show | a0001c0001t0002a0005c0005t0002a0008c0009t0002others(2): Show | a0001c0001t0002g0097a0005c0005t0002g0002a0005c0005t0002g0176others(7): Show | 16 | 258 | 0.0620 | -9 | c.903 others(26): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144292953 | TAAGAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(204): Show | 223 | 398 | 0.5603 | -9 | c.-15 others(20): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 1516 | chr8 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72742803 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp2 NA18987.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0002g0071others(1): Show | 4 | 388 | 0.0103 | -9 | c.389 others(24): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORCS8_chr19_19171906_19197152 | 19177683 | AGGAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG02027.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029a0001c0001t0003g0030a0001c0001t0003g0078others(2): Show | 7 | 428 | 0.0164 | -9 | c.*43 others(24): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33240683 | ATAGATAA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0022a0001c0002t0003g0073a0001c0002t0006g0022 | 5 | 382 | 0.0131 | -9 | c.581 others(24): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFB3_chr20_33048903_33078847 | 33062063 | CTAAGAAG others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(369): Show |
a0000a0001a0002others(12): Show | a0000c0020a0001c0001a0001c0005others(22): Show | a0000c0020t0003a0001c0001t0001a0001c0001t0002others(25): Show | a0000c0020t0003g0074a0001c0001t0001g0001a0001c0001t0001g0002others(151): Show | 372 | 374 | 0.9947 | -9 | c.579 others(24): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFC_chr22_32408845_32469446 | 32424642 | CTCTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01192.hp1 HG01952.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0002a0005c0005t0001a0005c0005t0002 | a0002c0002t0002g0094a0002c0002t0002g0250a0002c0002t0002g0275others(3): Show | 6 | 422 | 0.0142 | -9 | c.121 others(28): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38302460 | CAATAATA others(2): Show |
C | upstream_gene_variant | MODIFIER | NA18941.hp1 NA18950.hp2 NA19002.hp1 |
a0007a0037 | a0007c0007a0037c0053 | a0007c0007t0001a0037c0053t0001 | a0007c0007t0001g0035a0037c0053t0001g0209 | 3 | 426 | 0.0070 | -9 | c.-17 others(20): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar |