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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSH_chrX_3001546_3039111 | 3036740 | ATAATATT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0116others(4): Show | 7 | 248 | 0.0282 | -16 | c.*33 others(27): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2630 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3037144 | TATATATA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00735.hp2 others(22): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0039others(22): Show | 25 | 248 | 0.1008 | -16 | c.*37 others(27): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 3034 | chrX | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113924066 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | NA18944.hp2 NA18955.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0096a0001c0001t0002g0097a0001c0001t0004g0268others(2): Show | 5 | 350 | 0.0143 | -16 | c.399 others(35): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113936645 | GCAGCATG others(9): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0278 | 1 | 350 | 0.0029 | -16 | c.399 others(35): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113961895 | CTCTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 350 | 0.0029 | -16 | c.398 others(35): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113961897 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(1): Show | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0187others(13): Show | 16 | 350 | 0.0457 | -16 | c.398 others(35): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSK_chr5_95550101_95610102 | 95595908 | CTTTAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 336 | 0.0030 | -16 | c.109 others(35): Show |
ARSK | ENSG00000164291.17 | transcript | ENST00000380009.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARSL_chrX_2929521_2969341 | 2959941 | GAGAAAGA others(9): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 328 | 0.0031 | -16 | c.23+ others(29): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 2/10 | chrX | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830536 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02165.hp2 HG02257.hp1 others(12): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0007a0001c0001t0009a0001c0001t0024others(2): Show | a0001c0001t0007g0147a0001c0001t0007g0228a0001c0001t0007g0325others(11): Show | 15 | 380 | 0.0395 | -16 | c.854 others(33): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830649 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG01169.hp2 others(6): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0006others(1): Show | a0002c0002t0015a0003c0003t0003a0005c0006t0003others(1): Show | a0002c0002t0015g0010a0003c0003t0003g0002a0005c0006t0003g0122others(1): Show | 9 | 380 | 0.0237 | -16 | c.854 others(33): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25000118 | AGAGTAAT others(9): Show |
A | downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0071 | 1 | 300 | 0.0033 | -16 | c.*45 others(27): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 3575 | chrX | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102874757 | TCTTAATT others(9): Show |
T | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 362 | 0.0028 | -16 | c.528 others(30): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02630.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0230a0001c0001t0001g0231 | 3 | 362 | 0.0083 | -16 | c.886 others(33): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102889631 | CCTTCCTT others(9): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG03834.hp1 NA18940.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0022others(2): Show | a0001c0001t0008g0034a0001c0001t0008g0035a0001c0001t0008g0042others(11): Show | 14 | 362 | 0.0387 | -16 | c.886 others(31): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102892985 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0006a0001c0001t0029a0002c0012t0006 | a0001c0001t0006g0163a0001c0001t0006g0164a0001c0001t0006g0165others(3): Show | 6 | 362 | 0.0166 | -16 | c.102 others(35): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50754891 | GGTGTGTG others(9): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00733.hp2 others(56): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0014others(20): Show | 59 | 414 | 0.1425 | -16 | c.*18 others(25): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 182 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2_chr10_50179861_50256516 | 50182843 | GTTATAGG others(9): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0006 | a0002c0006t0101 | a0002c0006t0101g0273 | 1 | 408 | 0.0025 | -16 | c.*44 others(27): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 2017 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187084 | CCTCTCTC others(9): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0010 | a0001c0010t0102 | a0001c0010t0102g0362 | 1 | 408 | 0.0025 | -16 | c.*21 others(25): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 215 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187110 | TCTCTCTC others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03942.hp1 NA18970.hp2 |
a0002 | a0002c0001 | a0002c0001t0043 | a0002c0001t0043g0308a0002c0001t0043g0335 | 2 | 408 | 0.0049 | -16 | c.*18 others(25): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 189 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187116 | TCTCACAC others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0001 | a0002c0001t0112 | a0002c0001t0112g0043 | 1 | 408 | 0.0025 | -16 | c.*18 others(25): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 183 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50224583 | TTGCAAGG others(9): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0010 | a0001c0010t0069 | a0001c0010t0069g0200 | 1 | 408 | 0.0025 | -16 | c.894 others(33): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049354 | GGCAGAGG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0082a0002c0002t0003g0083 | 2 | 308 | 0.0065 | -16 | c.*53 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2749 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130107515 | AATGTATG others(9): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0008t0001g0244 | 3 | 308 | 0.0097 | -16 | c.240 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 308 | 0.0033 | -16 | c.240 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130151370 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 NA18906.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0028a0002c0002t0001 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(2): Show | 5 | 308 | 0.0162 | -16 | c.108 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256738 | CTTATATA others(9): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 308 | 0.0033 | -16 | c.187 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256739 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0257 | 1 | 308 | 0.0033 | -16 | c.187 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262412 | AAAAAAGA others(9): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00642.hp1 others(20): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0011t0001 | a0002c0002t0001g0060a0002c0002t0001g0063a0002c0002t0001g0064others(20): Show | 23 | 308 | 0.0747 | -16 | c.187 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130275465 | CAGCGCCT others(9): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0263 | 1 | 308 | 0.0033 | -16 | c.187 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGAAA others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0008g0011a0001c0001t0008g0017a0001c0001t0008g0021others(4): Show | 7 | 308 | 0.0227 | -16 | c.187 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130393342 | GGGAAGCC others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01167.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0039others(39): Show | 42 | 308 | 0.1364 | -16 | c.59+ others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130420235 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(1): Show | 4 | 308 | 0.0130 | -16 | c.-27 others(35): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9395594 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0031a0001c0002t0009g0208 | 2 | 210 | 0.0095 | -16 | c.268 others(35): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9407673 | GGCAGAGT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0192 | 1 | 210 | 0.0048 | -16 | c.*43 others(27): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1996 | chr2 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23425176 | CGTGTGTG others(9): Show |
C | downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0075others(1): Show | 5 | 346 | 0.0145 | -16 | c.*46 others(27): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3386 | chr1 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23464659 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 346 | 0.0029 | -16 | c.130 others(33): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5647959 | GCAGGTAA others(9): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00735.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0056a0001c0001t0001g0379a0001c0001t0002g0020others(23): Show | 29 | 446 | 0.0650 | -16 | c.517 others(32): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5647964 | TAAACACC others(9): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0109 | 1 | 446 | 0.0022 | -16 | c.517 others(32): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5648236 | CAAACACC others(9): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 446 | 0.0022 | -16 | c.517 others(31): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5648363 | TAAACACC others(9): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0062a0001c0001t0031g0415 | 2 | 446 | 0.0045 | -16 | c.517 others(31): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5648555 | TAAACACC others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(171): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(159): Show | 174 | 446 | 0.3901 | -16 | c.517 others(31): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5650172 | TGAAACCA others(9): Show |
T | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 446 | 0.0022 | -16 | c.382 others(33): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 3/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5652021 | AAAAACCA others(9): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129a0001c0001t0002g0132 | 2 | 446 | 0.0045 | -16 | c.232 others(31): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5653657 | CATTTATT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(99): Show | 110 | 446 | 0.2466 | -16 | c.44- others(29): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620507 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0337 | 1 | 380 | 0.0026 | -16 | c.451 others(33): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620544 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA18974.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0003a0005c0007t0004 | a0001c0001t0003g0098a0005c0007t0004g0323 | 2 | 380 | 0.0053 | -16 | c.451 others(33): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620548 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | NA18947.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0237a0001c0001t0007g0143 | 2 | 380 | 0.0053 | -16 | c.451 others(33): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123623931 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01069.hp1 others(26): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0013 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0055a0001c0001t0003g0158a0001c0001t0003g0175others(25): Show | 29 | 380 | 0.0763 | -16 | c.452 others(31): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB2_chr14_93929166_93981570 | 93929254 | CAGTGTGG others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0346 | 1 | 373 | 0.0027 | -16 | c.*53 others(27): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 4911 | chr14 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95513293 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01358.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0181a0001c0001t0010g0182a0001c0001t0010g0185others(3): Show | 6 | 388 | 0.0155 | -16 | c.488 others(35): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |