| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRD4_chr19_15230519_15337539 | 15310358 | TCCCCCCC others(9): Show |
T | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0134 | 1 | 208 | 0.0048 | -16 | c.-35 others(35): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
| BRD7_chr16_50310957_50373988 | 50363656 | TGTGTGCG others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(102): Show |
a0001a0010 | a0001c0001a0010c0009 | a0001c0001t0003a0001c0001t0004a0001c0001t0024others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0006others(87): Show | 105 | 402 | 0.2612 | -16 | c.258 others(33): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 2/16 | chr16 | TogoVar | ||||||
| BRDT_chr1_91944401_92019421 | 91945279 | AATATATA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 NA18522.hp2 |
a0001a0004a0013 | a0001c0001a0004c0004a0013c0017 | a0001c0001t0001a0004c0004t0001a0013c0017t0002 | a0001c0001t0001g0288a0004c0004t0001g0289a0013c0017t0002g0128 | 3 | 318 | 0.0094 | -16 | c.-44 others(27): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | ||||||
| BRDT_chr1_91944401_92019421 | 91945319 | TATATATA others(9): Show |
T | upstream_gene_variant | MODIFIER | NA18965.hp2 NA19001.hp2 NA19057.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098a0002c0002t0002g0111a0002c0002t0002g0127 | 3 | 318 | 0.0094 | -16 | c.-44 others(27): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4081 | chr1 | TogoVar | ||||||
| BRDT_chr1_91944401_92019421 | 91968911 | ATTATTTA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01069.hp2 others(11): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(11): Show | 14 | 318 | 0.0440 | -16 | c.445 others(31): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BRDT_chr1_91944401_92019421 | 91985628 | ATTAGTTT others(9): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02630.hp2 others(6): Show |
a0001a0010 | a0001c0001a0010c0007 | a0001c0001t0003a0001c0001t0008a0010c0007t0003 | a0001c0001t0003g0007a0001c0001t0003g0009a0001c0001t0003g0010others(6): Show | 9 | 318 | 0.0283 | -16 | c.200 others(35): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BRDT_chr1_91944401_92019421 | 91989181 | AGTAGAAC others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(94): Show |
a0002a0004a0005others(6): Show | a0002c0002a0002c0015a0002c0021others(8): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(10): Show | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0002g0023others(92): Show | 97 | 318 | 0.3050 | -16 | c.200 others(35): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BRDT_chr1_91944401_92019421 | 91995403 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01358.hp2 HG01891.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0002 | a0002c0002t0002g0073a0002c0002t0002g0105a0004c0004t0002g0135 | 3 | 318 | 0.0094 | -16 | c.228 others(35): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BRF1_chr14_105204286_105306001 | 105248555 | CGGCGGGT others(9): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 72 | 0.0139 | -16 | c.544 others(33): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 5/17 | chr14 | TogoVar | ||||||
| BRI3BP_chr12_124988645_125036231 | 124992024 | ATTTTTTT others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0074 | a0001c0006t0074g0396 | 1 | 410 | 0.0024 | -16 | c.-17 others(27): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1620 | chr12 | TogoVar | ||||||
| BRI3BP_chr12_124988645_125036231 | 125015699 | AGAAATGT others(9): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 410 | 0.0024 | -16 | c.316 others(33): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
| BRI3BP_chr12_124988645_125036231 | 125019644 | TTTTTTTT others(9): Show |
T | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 410 | 0.0024 | -16 | c.317 others(33): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BRINP1_chr9_119161629_119374435 | 119211164 | CTTTATTT others(9): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01891.hp2 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0195a0001c0001t0001g0200a0001c0001t0001g0204others(12): Show | 15 | 236 | 0.0636 | -16 | c.923 others(33): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 6/7 | chr9 | TogoVar | ||||||
| BRINP1_chr9_119161629_119374435 | 119366503 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0189a0001c0003t0001g0211 | 2 | 236 | 0.0085 | -16 | c.-51 others(33): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
| BRINP2_chr1_177165958_177287422 | 177212066 | CAGATAGA others(9): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 252 | 0.0040 | -16 | c.-76 others(35): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BRINP2_chr1_177165958_177287422 | 177287183 | TCTTCCTT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp1 NA18942.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0132others(1): Show | 4 | 252 | 0.0159 | -16 | c.*56 others(27): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 4762 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190148596 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0141 | 2 | 240 | 0.0083 | -16 | c.118 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01361.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0101a0001c0001t0001g0103others(17): Show | 20 | 240 | 0.0833 | -16 | c.961 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190259615 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0151a0001c0001t0001g0154a0001c0001t0001g0161others(6): Show | 9 | 240 | 0.0375 | -16 | c.618 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190312036 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0130others(2): Show | 5 | 240 | 0.0208 | -16 | c.237 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190339005 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0153 | 2 | 240 | 0.0083 | -16 | c.237 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190405477 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0192 | 2 | 240 | 0.0083 | -16 | c.236 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02630.hp2 HG02897.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0010a0002c0003t0030others(1): Show | a0002c0003t0003g0257a0002c0003t0003g0258a0002c0003t0003g0259others(4): Show | 7 | 266 | 0.0263 | -16 | c.249 others(35): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61772157 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp2 NA18612.hp1 NA18963.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0055others(2): Show | a0001c0001t0001g0065a0001c0001t0004g0159a0001c0001t0055g0209others(2): Show | 5 | 266 | 0.0188 | -16 | c.209 others(35): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61772194 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp2 HG02165.hp2 others(3): Show |
a0002a0003 | a0002c0003a0003c0006 | a0002c0003t0003a0002c0003t0005a0002c0003t0043others(2): Show | a0002c0003t0003g0263a0002c0003t0005g0070a0002c0003t0005g0071others(3): Show | 6 | 266 | 0.0226 | -16 | c.209 others(35): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61804954 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03540.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0142a0001c0001t0017g0144a0001c0001t0017g0145 | 3 | 266 | 0.0113 | -16 | c.919 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | ||||||
| BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATAT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02258.hp2 HG02602.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0025others(32): Show | 42 | 374 | 0.1123 | -16 | c.*27 others(27): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | ||||||
| BRSK1_chr19_55278997_55317562 | 55308774 | CCGTGGGT others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(142): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0007a0001c0001t0001g0028a0001c0001t0001g0049others(131): Show | 145 | 338 | 0.4290 | -16 | c.217 others(32): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BRSK1_chr19_55278997_55317562 | 55312701 | GCGCCGGC others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG01346.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0002a0001c0004t0017a0001c0009t0003others(4): Show | a0001c0001t0002g0284a0001c0004t0017g0045a0001c0009t0003g0100others(11): Show | 16 | 338 | 0.0473 | -16 | c.*63 others(25): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 140 | chr19 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1393235 | TTTTGTCC others(9): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01943.hp1 HG01952.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0001g0044a0001c0001t0001g0312a0001c0001t0001g0313others(14): Show | 17 | 360 | 0.0472 | -16 | c.91+ others(31): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1419949 | TTCCTGAG others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01167.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0008others(3): Show | a0001c0001t0001g0127a0001c0001t0001g0141a0001c0001t0004g0136others(6): Show | 9 | 360 | 0.0250 | -16 | c.92- others(33): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRWD1_chr21_39180482_39318632 | 39183865 | TAGAGGGG others(9): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(146): Show |
a0001a0004a0007others(4): Show | a0001c0001a0001c0008a0001c0020others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0021others(146): Show | 149 | 338 | 0.4408 | -16 | c.*12 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 1616 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39217035 | AAATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG02135.hp2 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034a0001c0001t0075 | a0001c0001t0003g0298a0001c0001t0003g0317a0001c0001t0034g0061others(1): Show | 4 | 338 | 0.0118 | -16 | c.365 others(35): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG01261.hp1 NA19054.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0045a0002c0002t0001 | a0001c0001t0045g0188a0002c0002t0001g0183 | 2 | 338 | 0.0059 | -16 | c.248 others(35): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39244921 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0007 | a0005c0007t0021 | a0005c0007t0021g0173 | 1 | 338 | 0.0030 | -16 | c.248 others(35): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 HG06807.hp1 others(1): Show |
a0006 | a0006c0009a0006c0013 | a0006c0009t0012a0006c0013t0012 | a0006c0009t0012g0083a0006c0009t0012g0084a0006c0009t0012g0086others(1): Show | 4 | 338 | 0.0118 | -16 | c.235 others(33): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39249913 | GGGGTGTG others(9): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0006 | a0006c0009 | a0006c0009t0012 | a0006c0009t0012g0084 | 1 | 338 | 0.0030 | -16 | c.234 others(33): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
| BRWD3_chrX_80664503_80814877 | 80730389 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03516.hp1 NA19055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0020a0001c0001t0102others(2): Show | a0001c0001t0005g0112a0001c0001t0020g0136a0001c0001t0102g0160others(2): Show | 5 | 265 | 0.0189 | -16 | c.112 others(33): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | ||||||
| BRWD3_chrX_80664503_80814877 | 80788085 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0220a0001c0001t0001g0221a0001c0001t0001g0222others(113): Show | 116 | 265 | 0.4377 | -16 | c.430 others(33): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | ||||||
| BSG_chr19_567596_588493 | 575605 | TGGGTGGG others(9): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 306 | 0.0033 | -16 | c.68- others(31): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BSN_chr3_49549477_49676549 | 49617283 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(81): Show |
a0001a0004a0008others(9): Show | a0001c0001a0001c0016a0001c0017others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(27): Show | a0001c0001t0002g0095a0001c0001t0002g0097a0001c0001t0002g0102others(81): Show | 84 | 186 | 0.4516 | -16 | c.225 others(33): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BSPRY_chr9_113344541_113376222 | 113357886 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02886.hp2 HG02895.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077others(9): Show | 12 | 448 | 0.0268 | -16 | c.301 others(33): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| BST1_chr4_15698065_15737787 | 15698713 | GTATATAT others(9): Show |
G | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 442 | 0.0023 | -16 | c.-44 others(27): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 4351 | chr4 | TogoVar | ||||||
| BTAF1_chr10_91918770_92036437 | 91991265 | AATATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02602.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163a0001c0001t0002g0164a0001c0001t0002g0166 | 3 | 330 | 0.0091 | -16 | c.285 others(33): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BTAF1_chr10_91918770_92036437 | 91991789 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 330 | 0.0030 | -16 | c.285 others(33): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BTAF1_chr10_91918770_92036437 | 91991791 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 330 | 0.0030 | -16 | c.285 others(33): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BTAF1_chr10_91918770_92036437 | 92012070 | TCTCCCTC others(9): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 330 | 0.0030 | -16 | c.431 others(33): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BTBD10_chr11_13383008_13468222 | 13395161 | AGTGTAAA others(9): Show |
A | intron_variant | MODIFIER | NA18948.hp2 NA18969.hp2 NA18988.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0221others(3): Show | 6 | 356 | 0.0169 | -16 | c.111 others(35): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 8/8 | chr11 | TogoVar | ||||||
| BTBD19_chr1_44803523_44820585 | 44812786 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0094a0001c0001t0003g0010a0001c0001t0003g0077others(7): Show | 16 | 436 | 0.0367 | -16 | c.415 others(31): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BTBD19_chr1_44803523_44820585 | 44814148 | CTCTTTCT others(9): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01891.hp1 NA18940.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0066a0001c0001t0120others(1): Show | a0001c0001t0065g0073a0001c0001t0066g0010a0001c0001t0120g0012others(1): Show | 4 | 436 | 0.0092 | -16 | c.*42 others(25): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 426 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |