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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCORL1_chrX_129977635_130063071 | 130043746 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 203 | 0.0049 | 18 | c.484 others(37): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCOR_chrX_40046251_40102958 | 40046552 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 257 | 0.0039 | 18 | c.*55 others(29): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4698 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40056281 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 257 | 0.0039 | 18 | c.459 others(35): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 11/14 | chrX | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGGGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0163a0001c0001t0196 | a0001c0001t0163g0276a0001c0001t0196g0083 | 2 | 319 | 0.0063 | 18 | c.*12 others(29): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0031a0001c0001t0208a0001c0002t0096others(1): Show | a0001c0001t0031g0191a0001c0001t0031g0203a0001c0001t0208g0198others(2): Show | 5 | 319 | 0.0157 | 18 | c.*12 others(29): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | |||||
BDH2_chr4_103072592_103104834 | 103102328 | C | CATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0021a0001c0001t0017g0109 | 3 | 382 | 0.0079 | 18 | c.-25 others(29): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 2495 | chr4 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71506786 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0319 | 1 | 325 | 0.0031 | 18 | c.237 others(37): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0219others(48): Show | 59 | 366 | 0.1612 | 18 | c.482 others(35): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69685029 | C | CTATTCTA others(11): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 366 | 0.0027 | 18 | c.482 others(35): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 339 | 0.0030 | 18 | c.*28 others(29): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425807 | G | GGAAGGGA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(42): Show | 46 | 276 | 0.1667 | 18 | c.490 others(37): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133446570 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0163 | 2 | 276 | 0.0073 | 18 | c.490 others(33): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133466677 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 276 | 0.0036 | 18 | c.892 others(33): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79087010 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 390 | 0.0026 | 18 | c.101 others(37): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79087014 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0183 | 1 | 390 | 0.0026 | 18 | c.101 others(37): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TAATATAT others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG01981.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0051others(4): Show | a0001c0001t0001g0075a0001c0001t0001g0081a0001c0001t0001g0087others(7): Show | 10 | 132 | 0.0758 | 18 | c.191 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 NA21309.hp2 |
a0002 | a0002c0003 | a0002c0003t0015a0002c0003t0026 | a0002c0003t0015g0010a0002c0003t0026g0047 | 2 | 132 | 0.0152 | 18 | c.191 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58769400 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18747.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008 | a0001c0001t0001g0109a0002c0002t0008g0035 | 2 | 132 | 0.0152 | 18 | c.308 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58769402 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG02027.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0068a0001c0001t0002g0003a0001c0001t0006g0105others(3): Show | 6 | 132 | 0.0455 | 18 | c.308 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICC1_chr10_58507872_58836435 | 58769404 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01255.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0027a0002c0002t0008 | a0001c0001t0007g0071a0001c0001t0027g0042a0002c0002t0008g0051others(1): Show | 4 | 132 | 0.0303 | 18 | c.308 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32117695 | T | TACACAAA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00642.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0004g0142a0001c0001t0007g0107a0001c0001t0007g0139others(10): Show | 13 | 290 | 0.0448 | 18 | c.213 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32117711 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0092 | 1 | 290 | 0.0035 | 18 | c.213 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32135061 | C | CCTCCCCT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0174a0001c0001t0001g0197a0001c0001t0001g0202others(74): Show | 77 | 290 | 0.2655 | 18 | c.213 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32198323 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02809.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0015a0001c0002t0002others(3): Show | a0001c0001t0003g0261a0001c0001t0015g0042a0001c0002t0002g0282others(3): Show | 6 | 290 | 0.0207 | 18 | c.214 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32243264 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0189 | 1 | 290 | 0.0035 | 18 | c.426 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32346560 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0134a0001c0001t0024g0209 | 2 | 290 | 0.0069 | 18 | c.276 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32348723 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0016 | 1 | 290 | 0.0035 | 18 | c.276 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0185 | 1 | 290 | 0.0035 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCCT others(11): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02486.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0036 | a0001c0001t0010g0133a0001c0001t0010g0143a0001c0001t0036g0090 | 3 | 290 | 0.0103 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00741.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0174a0001c0001t0001g0278a0001c0001t0004g0032others(14): Show | 17 | 290 | 0.0586 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384599 | C | CTTCTTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 290 | 0.0035 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 967 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384602 | C | CTTCTTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0091 | 1 | 290 | 0.0035 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 970 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384717 | C | CTTCTTCC others(11): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG03492.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0013a0001c0003t0042others(2): Show | a0001c0001t0013g0279a0001c0003t0013g0051a0001c0003t0013g0189others(4): Show | 7 | 290 | 0.0241 | 18 | c.*70 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1085 | chr12 | TogoVar | ||||||
BICD2_chr9_92706363_92769833 | 92764801 | A | AGCCGCCG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0209 | 1 | 360 | 0.0028 | 18 | c.-58 others(25): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/7 | 58 | chr9 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 120033367 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG06807.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0128a0001c0002t0004g0233a0001c0002t0004g0246 | 3 | 296 | 0.0101 | 18 | c.646 others(37): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 120045914 | T | TATAATAA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0289 | 1 | 296 | 0.0034 | 18 | c.646 others(37): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 120045917 | T | TATAATAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01175.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0127others(34): Show | 38 | 296 | 0.1284 | 18 | c.646 others(37): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL2_chr16_3022682_3041944 | 3034693 | C | CTTCCTTC others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0124 | 1 | 390 | 0.0026 | 18 | c.282 others(33): Show |
BICDL2 | ENSG00000162069.16 | transcript | ENST00000572449.6 | protein_coding | 2/9 | chr16 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18974.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0046a0001c0001t0002g0057a0001c0001t0004g0131 | 3 | 270 | 0.0111 | 18 | c.-6+ others(33): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18612.hp1 NA19004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0047a0001c0001t0001g0048others(2): Show | 5 | 270 | 0.0185 | 18 | c.-6+ others(33): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0008a0001c0001t0006g0007 | 2 | 270 | 0.0074 | 18 | c.-6+ others(33): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0152 | 2 | 270 | 0.0074 | 18 | c.225 others(35): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47638613 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 312 | 0.0032 | 18 | c.-10 others(39): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGCGCGCG others(11): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 312 | 0.0032 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0010 | 1 | 312 | 0.0032 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0266 | 1 | 312 | 0.0032 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 312 | 0.0032 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02630.hp1 NA18991.hp1 |
a0001a0002 | a0001c0008a0001c0028a0002c0002 | a0001c0008t0006a0001c0028t0003a0002c0002t0002 | a0001c0008t0006g0239a0001c0028t0003g0005a0002c0002t0002g0132 | 3 | 312 | 0.0096 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47685787 | G | GTGCGCGC others(11): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 312 | 0.0032 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | chr19 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127104521 | C | CCCAGCAC others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 344 | 0.0029 | 18 | c.84+ others(33): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar |