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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAG3_chr10_119646380_119682819 | 119675919 | T | TCCTTCCT others(37): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0290 | 1 | 420 | 0.0024 | 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 | a0001c0003a0001c0007a0001c0019others(6): Show | a0001c0003t0003a0001c0007t0015a0001c0019t0003others(6): Show | a0001c0003t0003g0047a0001c0003t0003g0053a0001c0007t0015g0275others(12): Show | 15 | 332 | 0.0452 | 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 | a0001c0002t0003g0050 | 1 | 284 | 0.0035 | 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 | a0001c0002t0002g0034 | 1 | 352 | 0.0028 | 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 | a0001c0004t0004g0351a0001c0004t0004g0360 | 2 | 380 | 0.0053 | 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 | 380 | 0.0026 | 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 | a0001c0001t0003g0036a0002c0002t0003g0012 | 2 | 268 | 0.0075 | 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 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0028others(12): Show | 17 | 398 | 0.0427 | 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 | a0001c0001t0003g0229 | 1 | 398 | 0.0025 | 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 | a0001c0001t0002g0122 | 1 | 392 | 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 | 74 | 0.0135 | 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 | 74 | 0.0135 | 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 | a0001c0002t0002g0064a0002c0005t0001g0051 | 2 | 74 | 0.0270 | 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 | a0001c0001t0001g0113 | 1 | 304 | 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 | 458 | 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 | a0002c0002t0002g0070a0002c0002t0002g0082 | 2 | 458 | 0.0044 | 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 | a0001c0001t0010g0146a0001c0001t0022g0237a0001c0001t0024g0243others(9): Show | 12 | 306 | 0.0392 | 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 | a0001c0001t0001g0159a0001c0001t0001g0238a0001c0001t0007g0166others(2): Show | 5 | 264 | 0.0189 | 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 | a0001c0002t0001g0016a0001c0002t0001g0017a0001c0002t0001g0018others(1): Show | 4 | 402 | 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 | a0001c0002t0001g0127 | 1 | 402 | 0.0025 | 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 | 298 | 0.0034 | 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 | a0001c0004t0002g0224 | 1 | 396 | 0.0025 | 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 | a0001c0003t0001g0275a0001c0003t0001g0276a0001c0003t0002g0038others(147): Show | 160 | 396 | 0.4040 | 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 | a0001c0001t0001g0184a0001c0001t0003g0213a0001c0001t0003g0234others(9): Show | 12 | 290 | 0.0414 | 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 | a0005 | a0005c0026 | a0005c0026t0001 | a0005c0026t0001g0187 | 1 | 274 | 0.0037 | 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 | 404 | 0.0025 | 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 | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0032others(16): Show | 57 | 366 | 0.1557 | 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 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0002g0032a0001c0001t0004g0249a0001c0001t0004g0253others(4): Show | 7 | 272 | 0.0257 | 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 | 232 | 0.0043 | 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 | a0001c0002t0063g0213a0001c0002t0069g0212a0001c0002t0072g0162others(1): Show | 4 | 278 | 0.0144 | 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 | a0001c0002t0052g0195 | 1 | 278 | 0.0036 | 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 | a0001c0002t0004g0113 | 1 | 278 | 0.0036 | 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 | a0001c0002t0003g0069 | 1 | 278 | 0.0036 | 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 | a0001c0003t0033g0019 | 1 | 278 | 0.0036 | 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 | 226 | 0.0044 | 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 | 176 | 0.0057 | 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 | a0002c0004t0005 | a0002c0004t0005g0281 | 1 | 386 | 0.0026 | 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 | a0002c0004t0005 | a0002c0004t0005g0061a0002c0004t0005g0327a0002c0004t0005g0328others(1): Show | 4 | 386 | 0.0104 | 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 | a0005c0005t0001g0131a0005c0005t0001g0132 | 2 | 388 | 0.0052 | 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 |
a0011a0017 | a0011c0017a0017c0024 | a0011c0017t0002a0017c0024t0001 | a0011c0017t0002g0163a0017c0024t0001g0089 | 2 | 388 | 0.0052 | 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 | a0008c0008t0001g0249 | 1 | 388 | 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 | a0001c0001t0002g0003a0001c0001t0002g0200a0001c0001t0006g0185others(1): Show | 4 | 356 | 0.0112 | 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 | 274 | 0.0037 | 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 | a0001c0003t0003g0094 | 1 | 274 | 0.0037 | 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 | a0001c0002t0005g0034a0001c0002t0005g0035a0001c0002t0005g0036others(1): Show | 4 | 424 | 0.0094 | 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 | a0001c0001t0001g0136 | 1 | 424 | 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 | a0001c0001t0001g0043 | 1 | 240 | 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 | a0002c0002t0001g0185 | 1 | 338 | 0.0030 | 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 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0220a0001c0001t0002g0207 | 2 | 265 | 0.0076 | 44 | c.283 others(61): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar |