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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BFSP1_chr20_17488905_17536379 | 17521054 | TTTCCTCA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0002t0001g0080 a0001c0002t0001g0092 a0001c0002t0001g0096 others(127): Show |
140 | 394 | 0.3553 | -10 | c.438 others(27): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133437664 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 274 | 0.0036 | -10 | c.490 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01175.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0002t0001a0005c0005t0001 | a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0074 others(12): Show |
15 | 44 | 0.3409 | -10 | c.490 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153500771 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02886.hp2 NA19083.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0039a0001c0003t0001 | a0001c0002t0039g0182 a0001c0003t0001g0067 |
2 | 319 | 0.0063 | -10 | c.-11 others(27): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153509028 | CCTCTCTC others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00642.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(12): Show | a0001c0001t0002g0098 a0001c0001t0006g0051 a0001c0001t0009g0008 others(26): Show |
56 | 300 | 0.1867 | -10 | c.*60 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 604 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509061 | CTGTGTGT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01516.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0014a0001c0002t0046a0001c0003t0001others(1): Show | a0001c0002t0014g0104 a0001c0002t0014g0105 a0001c0002t0046g0050 others(3): Show |
6 | 125 | 0.0480 | -10 | c.*65 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 652 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BHLHA9_chr17_1265444_1276815 | 1274633 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01071.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 105 | 0.0190 | -10 | c.*33 others(21): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 2819 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275594 | TGAGTGTG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp2 NA18950.hp1 NA18951.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000 a0001c0002t0002g0000 |
3 | 439 | 0.0068 | -10 | c.*43 others(21): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3780 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275784 | TGTGGGGG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0000 | 1 | 435 | 0.0023 | -10 | c.*45 others(21): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3970 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275794 | AGTGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02717.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0000 a0001c0002t0002g0000 |
12 | 437 | 0.0275 | -10 | c.*45 others(21): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3980 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275808 | TGAGTGTG others(3): Show |
T | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 433 | 0.0023 | -10 | c.*45 others(21): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3994 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1275865 | AGAGAGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03688.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 2 | 428 | 0.0047 | -10 | c.*45 others(21): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4051 | chr17 | TogoVar | |||||||
BHLHE22_chr8_64575365_64588627 | 64586015 | TGTGTGTG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(5): Show |
26 | 430 | 0.0605 | -10 | c.*40 others(21): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 2389 | chr8 | TogoVar | |||||||
BHLHE22_chr8_64575365_64588627 | 64586043 | TGCGCGCG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | -10 | c.*41 others(21): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 2417 | chr8 | TogoVar | |||||||
BHLHE23_chr20_63000927_63011964 | 63007121 | AGGGGCGG others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(49): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0000 a0001c0008t0001g0000 a0002c0003t0001g0000 others(1): Show |
52 | 444 | 0.1171 | -10 | c.-35 others(19): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 158 | chr20 | TogoVar | |||||||
BHLHE40_chr3_4974437_4990323 | 4981185 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(18): Show |
116 | 129 | 0.8992 | -10 | c.259 others(25): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHE41_chr12_26115030_26130037 | 26124960 | ACACACAC others(3): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023 | a0001c0001t0011g0020 a0001c0001t0023g0045 |
3 | 420 | 0.0071 | -10 | c.-19 others(19): Show |
BHLHE41 | ENSG00000123095.6 | transcript | ENST00000242728.5 | protein_coding | 1/5 | 182 | chr12 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79088358 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02717.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0074 |
3 | 90 | 0.0333 | -10 | c.101 others(26): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79137009 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 388 | 0.0026 | -10 | c.*58 others(21): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4722 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137260 | TATATATA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 430 | 0.0023 | -10 | c.*61 others(21): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4973 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58583582 | CTCTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 130 | 0.0077 | -10 | c.191 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58583584 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0002a0007c0009t0030 | a0001c0001t0002g0013 a0007c0009t0030g0012 |
2 | 20 | 0.1000 | -10 | c.191 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58584055 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01515.hp2 HG01517.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0003 a0001c0001t0003g0006 a0001c0001t0003g0007 others(4): Show |
7 | 8 | 0.8750 | -10 | c.191 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58621903 | TTAGAATA others(3): Show |
T | intron_variant | MODIFIER | HG02895.hp2 NA18906.hp2 |
a0002a0007 | a0002c0008a0007c0009 | a0002c0008t0044a0007c0009t0030 | a0002c0008t0044g0117 a0007c0009t0030g0012 |
2 | 103 | 0.0194 | -10 | c.237 others(27): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58718784 | GTGCGCAC others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0131 | 1 | 15 | 0.0667 | -10 | c.307 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0004 | a0003c0004t0034 | a0003c0004t0034g0034 | 1 | 19 | 0.0526 | -10 | c.307 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58732379 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0045a0002c0003t0022 | a0001c0001t0045g0090 a0002c0003t0022g0058 |
2 | 119 | 0.0168 | -10 | c.307 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58794165 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0007 | a0007c0009 | a0007c0009t0030 | a0007c0009t0030g0012 | 1 | 53 | 0.0189 | -10 | c.117 others(27): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58816745 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA18747.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0044 | a0001c0001t0001g0109 a0002c0008t0044g0117 |
2 | 9 | 0.2222 | -10 | c.253 others(27): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32118060 | ATATTTTA others(3): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 125 | 0.0080 | -10 | c.213 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32120867 | TAGAGAGA others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023a0001c0001t0035others(1): Show | a0001c0001t0022g0100 a0001c0001t0022g0102 a0001c0001t0023g0097 others(3): Show |
6 | 126 | 0.0476 | -10 | c.213 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32142422 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 288 | 0.0035 | -10 | c.213 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32159850 | TGTAGTTT others(3): Show |
T | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0117 | 1 | 288 | 0.0035 | -10 | c.213 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32171940 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0191 a0001c0001t0001g0255 a0001c0001t0003g0217 others(11): Show |
14 | 73 | 0.1918 | -10 | c.214 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32198322 | GCATCTAT others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01943.hp1 HG01978.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(15): Show | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0181 others(30): Show |
33 | 288 | 0.1146 | -10 | c.214 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32282199 | CTTCTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03710.hp1 HG03834.hp1 NA19083.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0013a0001c0003t0033others(1): Show | a0001c0001t0017g0095 a0001c0003t0013g0062 a0001c0003t0033g0137 others(1): Show |
4 | 253 | 0.0158 | -10 | c.427 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32300631 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01167.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(17): Show | a0001c0001t0001g0058 a0001c0001t0006g0021 a0001c0001t0006g0027 others(39): Show |
42 | 121 | 0.3471 | -10 | c.580 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346576 | ATATATAC others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 a0001c0001t0007g0026 |
2 | 284 | 0.0070 | -10 | c.276 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32348723 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02155.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0199 others(2): Show |
5 | 10 | 0.5000 | -10 | c.276 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120013439 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03195.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0274 |
3 | 46 | 0.0652 | -10 | c.645 others(29): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120057818 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0027 | a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0003g0261 others(10): Show |
13 | 95 | 0.1368 | -10 | c.646 others(27): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL2_chr16_3022682_3041944 | 3027709 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0072 | 1 | 169 | 0.0059 | -10 | c.*38 others(19): Show |
BICDL2 | ENSG00000162069.16 | transcript | ENST00000572449.6 | protein_coding | 10/10 | 387 | chr16 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42779223 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01168.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0085 a0001c0001t0001g0152 a0001c0001t0001g0154 others(15): Show |
18 | 67 | 0.2687 | -10 | c.-29 others(21): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2828 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42793122 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03540.hp1 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0007 | a0002c0003t0004g0040 a0002c0003t0007g0039 |
2 | 28 | 0.0714 | -10 | c.-10 others(31): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42793296 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
4 | 38 | 0.1053 | -10 | c.-10 others(31): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42794411 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0036 | 1 | 49 | 0.0204 | -10 | c.-10 others(31): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG02145.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0002g0146 others(3): Show |
6 | 12 | 0.5000 | -10 | c.184 others(29): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857600 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 a0001c0001t0006g0023 a0001c0001t0006g0067 |
3 | 237 | 0.0127 | -10 | c.225 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47659685 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 HG02922.hp2 others(4): Show |
a0001a0011a0013 | a0001c0003a0001c0013a0011c0041others(1): Show | a0001c0003t0003a0001c0003t0004a0001c0013t0006others(2): Show | a0001c0003t0003g0020 a0001c0003t0004g0009 a0001c0003t0004g0103 others(4): Show |
7 | 132 | 0.0530 | -10 | c.-10 others(31): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685780 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02258.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0032 | a0001c0001t0003a0003c0004t0004a0003c0032t0004 | a0001c0001t0003g0192 a0003c0004t0004g0050 a0003c0004t0004g0100 others(4): Show |
7 | 305 | 0.0230 | -10 | c.228 others(29): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |