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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ART4_chr12_14820569_14848526 | 14830649 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0153others(19): Show | 24 | 380 | 0.0632 | -8 | c.854 others(25): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 231004534 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01175.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0026others(30): Show | 43 | 402 | 0.1070 | -8 | c.*44 others(19): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 3802 | chr1 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545377 | GCAGCAGC others(1): Show |
G | frameshift_variant | HIGH | HG02630.hp2 | a0071 | a0071c0054 | a0071c0054t0018 | a0071c0054t0018g0153 | 1 | 193 | 0.0052 | -8 | c.232 others(15): Show |
p.Gln others(4): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1358/10667 | 232/2763 | 78/920 | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67604198 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 |
a0011a0023 | a0011c0008a0023c0022 | a0011c0008t0011a0023c0022t0043 | a0011c0008t0011g0143a0023c0022t0043g0138 | 2 | 193 | 0.0104 | -8 | c.161 others(29): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67654485 | AGTAACAT others(1): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0052 | a0052c0059 | a0052c0059t0029 | a0052c0059t0029g0134 | 1 | 193 | 0.0052 | -8 | c.176 others(29): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2/7 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723346 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0025 | a0025c0049 | a0025c0049t0052 | a0025c0049t0052g0009 | 1 | 193 | 0.0052 | -8 | c.260 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67733280 | GTGTTCTC others(1): Show |
G | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0026 | a0026c0051 | a0026c0051t0001 | a0026c0051t0001g0034 | 1 | 193 | 0.0052 | -8 | c.*94 others(19): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2662 | chrX | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102871546 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(84): Show | 93 | 362 | 0.2569 | -8 | c.171 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871748 | AAACAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0031 | a0001c0001t0010g0267a0001c0001t0010g0269a0001c0001t0031g0268 | 3 | 362 | 0.0083 | -8 | c.171 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02155.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010 | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0001g0275others(6): Show | 9 | 362 | 0.0249 | -8 | c.886 others(25): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102886287 | TCCTCCCT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01069.hp1 others(69): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(66): Show | 72 | 362 | 0.1989 | -8 | c.886 others(25): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102889639 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0003g0062a0001c0001t0003g0065a0001c0001t0003g0067others(5): Show | 8 | 362 | 0.0221 | -8 | c.886 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102892985 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01069.hp1 others(76): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0327a0001c0001t0002g0002a0001c0001t0002g0003others(73): Show | 79 | 362 | 0.2182 | -8 | c.102 others(27): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH1_chr8_18050992_18089107 | 18064603 | AGTTTCAG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02647.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0024a0003c0003t0005g0263a0003c0003t0005g0264others(1): Show | 6 | 420 | 0.0143 | -8 | c.383 others(21): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754891 | GGTGTGTG others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0056others(3): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(10): Show | 41 | 414 | 0.0990 | -8 | c.*19 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 190 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2B_chr10_50734936_50764255 | 50754930 | GTGTGTGT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017a0001c0001t0039others(1): Show | a0001c0001t0014g0001a0001c0001t0017g0001a0001c0001t0039g0001others(1): Show | 9 | 414 | 0.0217 | -8 | c.*19 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 195 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2_chr10_50179861_50256516 | 50187118 | TCACACAC others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02165.hp2 HG02293.hp2 NA21309.hp1 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0047a0003c0003t0047a0003c0003t0086 | a0001c0002t0047g0062a0003c0003t0047g0150a0003c0003t0086g0188 | 3 | 408 | 0.0074 | -8 | c.*18 others(17): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 189 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50221698 | GGATAGAT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG00741.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0010others(7): Show | a0001c0002t0001a0001c0004t0006a0001c0004t0013others(22): Show | a0001c0002t0001g0083a0001c0004t0006g0018a0001c0004t0006g0282others(37): Show | 41 | 408 | 0.1005 | -8 | c.894 others(25): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130064893 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00597.hp2 others(27): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0011t0001 | a0002c0002t0001g0060a0002c0002t0001g0063a0002c0002t0001g0064others(27): Show | 30 | 308 | 0.0974 | -8 | c.270 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0001g0137a0002c0002t0003g0059a0002c0002t0003g0065others(13): Show | 16 | 308 | 0.0520 | -8 | c.240 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130107515 | AATGTATG others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(81): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0221a0001c0001t0001g0243a0001c0001t0001g0278others(81): Show | 84 | 308 | 0.2727 | -8 | c.240 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130121784 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0155a0001c0001t0001g0158a0001c0001t0001g0159others(17): Show | 20 | 308 | 0.0649 | -8 | c.160 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 18/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130131153 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp2 HG01943.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0009a0002c0002t0003a0002c0002t0022others(1): Show | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(8): Show | 11 | 308 | 0.0357 | -8 | c.121 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 15/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130230065 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(191): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0016others(191): Show | 194 | 308 | 0.6299 | -8 | c.259 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256738 | CTTATATA others(1): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02040.hp1 NA19003.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0017a0002c0003t0001a0002c0003t0010 | a0001c0001t0017g0198a0001c0001t0017g0199a0002c0003t0001g0028others(2): Show | 5 | 308 | 0.0162 | -8 | c.187 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130268490 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp2 HG03490.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0028others(2): Show | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0024g0209others(3): Show | 6 | 308 | 0.0195 | -8 | c.187 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130276722 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0280a0001c0001t0001g0281a0001c0001t0002g0216 | 3 | 308 | 0.0097 | -8 | c.187 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGAAA others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG01975.hp1 others(23): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0039others(23): Show | 26 | 308 | 0.0844 | -8 | c.187 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130300113 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(1): Show | 4 | 308 | 0.0130 | -8 | c.186 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130373109 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03139.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0025a0001c0001t0028others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0278a0001c0001t0001g0280others(5): Show | 8 | 308 | 0.0260 | -8 | c.60- others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130413885 | GATTCATT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001a0002c0003t0010 | a0001c0001t0002g0024a0001c0001t0002g0027a0002c0003t0001g0019others(10): Show | 13 | 308 | 0.0422 | -8 | c.-27 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130420235 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01192.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(3): Show | a0001c0001t0001g0048a0001c0001t0001g0091a0001c0001t0001g0097others(27): Show | 30 | 308 | 0.0974 | -8 | c.-27 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9317213 | CCACACTC others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011a0001c0003t0004g0020a0001c0003t0004g0038others(3): Show | 6 | 210 | 0.0286 | -8 | c.346 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9361974 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 NA19240.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0133a0001c0007t0001g0030 | 2 | 210 | 0.0095 | -8 | c.146 others(27): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP3_chr1_23423563_23489179 | 23425176 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(85): Show | 92 | 346 | 0.2659 | -8 | c.*46 others(19): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3386 | chr1 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23464659 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0002a0001c0004t0001 | a0001c0001t0004g0165a0001c0001t0004g0167a0001c0002t0002g0251others(3): Show | 6 | 346 | 0.0173 | -8 | c.130 others(25): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15305597 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG02922.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0186a0001c0001t0004g0188a0001c0001t0013g0031others(4): Show | 8 | 306 | 0.0261 | -8 | c.182 others(25): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB12_chrX_64219194_64235607 | 64235197 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02572.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001a0003c0004t0001g0009a0003c0004t0001g0037 | 5 | 289 | 0.0173 | -8 | c.-47 others(19): Show |
ASB12 | ENSG00000198881.10 | transcript | ENST00000362002.3 | protein_coding | 4591 | chrX | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5653657 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(130): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0013a0001c0001t0001g0025a0001c0001t0001g0051others(122): Show | 133 | 446 | 0.2982 | -8 | c.44- others(21): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620503 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG01993.hp2 HG02886.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0001c0002t0046a0003c0005t0002 | a0001c0002t0001g0052a0001c0002t0001g0154a0001c0002t0001g0352others(2): Show | 5 | 380 | 0.0132 | -8 | c.451 others(25): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123623931 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp2 HG01070.hp1 others(81): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0092a0001c0001t0003g0097a0001c0001t0003g0274others(78): Show | 84 | 380 | 0.2211 | -8 | c.452 others(23): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB18_chr2_236188459_236269406 | 236199411 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0008a0001c0022others(8): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(17): Show | a0001c0003t0001g0105a0001c0003t0001g0112a0001c0003t0001g0113others(51): Show | 54 | 250 | 0.2160 | -8 | c.110 others(27): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236246346 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02630.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0022a0002c0005others(4): Show | a0001c0001t0001a0001c0022t0022a0002c0005t0001others(6): Show | a0001c0001t0001g0146a0001c0022t0022g0034a0002c0005t0001g0022others(7): Show | 10 | 250 | 0.0400 | -8 | c.206 others(25): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236252267 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02965.hp1 others(1): Show |
a0002 | a0002c0009a0002c0017 | a0002c0009t0003a0002c0009t0014a0002c0009t0016others(1): Show | a0002c0009t0003g0036a0002c0009t0014g0037a0002c0009t0016g0035others(1): Show | 4 | 250 | 0.0160 | -8 | c.206 others(27): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236268195 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01169.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0001c0001t0017a0002c0002t0001others(1): Show | a0001c0001t0001g0069a0001c0001t0001g0071a0001c0001t0001g0072others(4): Show | 7 | 250 | 0.0280 | -8 | c.-38 others(19): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3790 | chr2 | TogoVar | ||||||
ASB2_chr14_93929166_93981570 | 93953782 | CCATTGCT others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02451.hp1 others(17): Show |
a0001a0009 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0001others(2): Show | a0001c0002t0002g0047a0001c0002t0003g0031a0001c0003t0001g0046others(17): Show | 20 | 373 | 0.0536 | -8 | c.479 others(23): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 4/9 | chr14 | TogoVar | ||||||
ASB2_chr14_93929166_93981570 | 93960950 | GATAAATA others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0294a0001c0001t0001g0295a0001c0001t0001g0298others(10): Show | 13 | 373 | 0.0349 | -8 | c.206 others(25): Show |
ASB2 | ENSG00000100628.12 | transcript | ENST00000555019.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
ASB3_chr2_53664980_53791953 | 53671353 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211a0001c0001t0001g0216a0001c0001t0001g0217 | 3 | 350 | 0.0086 | -8 | c.137 others(25): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
ASB3_chr2_53664980_53791953 | 53721123 | TATAAATA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01261.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0120others(5): Show | 8 | 350 | 0.0229 | -8 | c.605 others(25): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 5/9 | chr2 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95493361 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0116a0001c0001t0001g0178a0001c0001t0001g0311others(5): Show | 8 | 388 | 0.0206 | -8 | c.188 others(25): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |