view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAG3_chr10_119646380_119682819 | 119675919 | T | TCCTTCCT others(37): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0284 | 1 | 3 | 0.3333 | 44 | c.910 others(59): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81432557 | T | TCCCTCCC others(37): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02155.hp2 HG02559.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0010others(6): Show | a0001c0001t0001a0002c0003t0003a0002c0010t0015others(6): Show | a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0285 others(12): Show |
15 | 299 | 0.0502 | 44 | c.358 others(61): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101986787 | G | GTGTATAT others(37): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0054 | 1 | 233 | 0.0043 | 44 | c.120 others(65): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88073424 | G | GCGGTGGC others(37): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 256 | 0.0039 | 44 | c.152 others(63): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(37): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02622.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0351 a0001c0004t0004g0360 |
2 | 175 | 0.0114 | 44 | c.393 others(61): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(37): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0342 | 1 | 174 | 0.0057 | 44 | c.393 others(61): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33569407 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG03669.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0036 a0002c0002t0003g0011 |
2 | 260 | 0.0077 | 44 | c.252 others(65): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591641 | T | TACACACA others(37): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01255.hp2 HG02083.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0031 others(12): Show |
17 | 314 | 0.0541 | 44 | c.194 others(61): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591656 | A | ACACACAC others(37): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 203 | 0.0049 | 44 | c.194 others(61): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75253878 | C | CCCTCCCC others(37): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 390 | 0.0026 | 44 | c.-23 others(55): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2255 | chr16 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60973585 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0040 | 1 | 57 | 0.0175 | 44 | c.122 others(65): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60973605 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0011 | 1 | 74 | 0.0135 | 44 | c.122 others(65): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045943 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 70 | 0.0143 | 44 | c.202 others(63): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045966 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0001 | a0001c0002t0002g0064 a0002c0005t0001g0051 |
2 | 61 | 0.0328 | 44 | c.202 others(63): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797331 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 302 | 0.0033 | 44 | c.151 others(65): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117089 | A | AATATATA others(37): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 454 | 0.0022 | 44 | c.-43 others(55): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4315 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG02293.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 a0002c0002t0002g0082 |
2 | 220 | 0.0091 | 44 | c.-43 others(55): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17720154 | T | TTTTCTTT others(37): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01517.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0022a0001c0001t0024others(3): Show | a0001c0001t0010g0135 a0001c0001t0022g0238 a0001c0001t0024g0243 others(9): Show |
12 | 120 | 0.1000 | 44 | c.601 others(61): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63198818 | G | GACACAGA others(37): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(1): Show | a0001c0001t0001g0159 a0001c0001t0001g0238 a0001c0001t0007g0166 others(2): Show |
5 | 13 | 0.3846 | 44 | c.586 others(63): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81235180 | A | AAATATAT others(37): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 others(1): Show |
4 | 400 | 0.0100 | 44 | c.-37 others(55): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3508 | chr16 | TogoVar | |||||||
BCO1_chr16_81233689_81296142 | 81235195 | T | TATATATA others(37): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 331 | 0.0030 | 44 | c.-37 others(55): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3493 | chr16 | TogoVar | |||||||
BEAN1_chr16_66422295_66487833 | 66474614 | G | GAGAGAGG others(37): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0284 | 1 | 252 | 0.0040 | 44 | c.290 others(61): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BFSP1_chr20_17488905_17536379 | 17491404 | G | GCCCTGCA others(37): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0202 | 1 | 205 | 0.0049 | 44 | c.*26 others(55): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 2500 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17491404 | G | GCCCTGCA others(37): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(157): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0005others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0002g0041 others(147): Show |
160 | 364 | 0.4396 | 44 | c.*26 others(55): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 2500 | chr20 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32142468 | A | ATCTATCT others(37): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01943.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0181 a0001c0001t0003g0226 a0001c0001t0003g0237 others(9): Show |
12 | 202 | 0.0594 | 44 | c.213 others(63): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461147 | C | CCTCCCCT others(37): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0006 | a0006c0026 | a0006c0026t0001 | a0006c0026t0001g0187 | 1 | 189 | 0.0053 | 44 | c.475 others(63): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 54 | 0.0185 | 44 | c.103 others(63): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169391842 | C | CCTTCAGA others(37): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0033 others(16): Show |
57 | 364 | 0.1566 | 44 | c.*46 others(55): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 3538 | chr1 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57216489 | C | CGCTGTCT others(37): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(2): Show | a0001c0001t0002g0032 a0001c0001t0004g0249 a0001c0001t0004g0253 others(4): Show |
7 | 224 | 0.0313 | 44 | c.611 others(63): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33941017 | T | TTTACATA others(37): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0125 | 1 | 229 | 0.0044 | 44 | c.319 others(61): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86791707 | C | CCCTTCCT others(37): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03239.hp2 HG03654.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0063a0001c0002t0069a0001c0002t0072others(1): Show | a0001c0002t0063g0209 a0001c0002t0069g0207 a0001c0002t0072g0163 others(1): Show |
4 | 179 | 0.0223 | 44 | c.-26 others(65): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(37): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0172 | 1 | 121 | 0.0083 | 44 | c.*75 others(55): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(37): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0105 | 1 | 121 | 0.0083 | 44 | c.*75 others(55): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(37): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0067 | 1 | 121 | 0.0083 | 44 | c.*75 others(55): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACATATA others(37): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0033 | a0001c0003t0033g0018 | 1 | 121 | 0.0083 | 44 | c.*75 others(55): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 95120610 | T | TTTCCTTC others(37): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 44 | 0.0227 | 44 | c.350 others(61): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16861181 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 15 | 0.0667 | 44 | c.3+9 others(57): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113260667 | T | TAGAACAG others(37): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0281 | 1 | 282 | 0.0035 | 44 | c.377 others(61): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260672 | C | CAGAACAG others(37): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG03579.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0066 a0002c0004t0007g0323 a0002c0004t0007g0324 others(1): Show |
4 | 354 | 0.0113 | 44 | c.377 others(61): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33295645 | G | GAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19240.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0131 a0005c0005t0001g0132 |
2 | 380 | 0.0053 | 44 | c.598 others(61): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33295662 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0012a0023 | a0012c0017a0023c0024 | a0012c0017t0002a0023c0024t0001 | a0012c0017t0002g0163 a0023c0024t0001g0089 |
2 | 360 | 0.0056 | 44 | c.598 others(61): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33295681 | A | AAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0250 | 1 | 384 | 0.0026 | 44 | c.598 others(61): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | chr20 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56956044 | A | AATATATA others(37): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG02056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0016 | a0001c0001t0002g0003 a0001c0001t0002g0199 a0001c0001t0006g0184 others(1): Show |
4 | 25 | 0.1600 | 44 | c.*77 others(55): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1886 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 99 | 0.0101 | 44 | c.530 others(63): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67979169 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0095 | 1 | 21 | 0.0476 | 44 | c.872 others(63): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2551261 | C | CTATATAT others(37): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0025 a0001c0002t0005g0060 a0001c0002t0005g0061 |
4 | 422 | 0.0095 | 44 | c.127 others(61): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2555625 | C | CACGCCAG others(37): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 422 | 0.0024 | 44 | c.-15 others(53): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 102 | chr7 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190301182 | T | TATGTATA others(37): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 238 | 0.0042 | 44 | c.237 others(63): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217053 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 325 | 0.0031 | 44 | c.365 others(63): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(37): Show |
intron_variant | MODIFIER | NA19058.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0202 a0001c0001t0005g0242 |
2 | 4 | 0.5000 | 44 | c.283 others(61): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar |