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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARVCF_chr22_19964896_20021823 | 20016693 | TGCGGC | T | 5_prime_UTR_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0027a0001c0004t0008g0028a0001c0004t0008g0089others(1): Show | 6 | 374 | 0.0160 | -5 | c.-18 others(14): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 1/20 | 25900 | chr22 | TogoVar | |||||
AR_chrX_67539021_67735619 | 67540475 | CAGATA | C | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0016 | a0016c0058 | a0016c0058t0012 | a0016c0058t0012g0107 | 1 | 193 | 0.0052 | -5 | c.-46 others(16): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3545 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67601203 | ATAAAT | A | intron_variant | MODIFIER | HG04204.hp1 | a0055 | a0055c0065 | a0055c0065t0002 | a0055c0065t0002g0099 | 1 | 193 | 0.0052 | -5 | c.161 others(26): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67670515 | ATATAT | A | intron_variant | MODIFIER | HG02809.hp1 | a0025 | a0025c0049 | a0025c0049t0052 | a0025c0049t0052g0009 | 1 | 193 | 0.0052 | -5 | c.176 others(26): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67733189 | CGGGTG | C | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0026 | a0026c0051 | a0026c0051t0001 | a0026c0051t0001g0034 | 1 | 193 | 0.0052 | -5 | c.*93 others(16): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2571 | chrX | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTT | A | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0179a0001c0001t0001g0183a0001c0001t0001g0221others(4): Show | 7 | 362 | 0.0193 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102888868 | TATATA | T | intron_variant | MODIFIER | NA18941.hp1 NA19072.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0071a0001c0001t0003g0084a0001c0001t0010g0070 | 3 | 362 | 0.0083 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888872 | TATATA | T | intron_variant | MODIFIER | HG00609.hp2 HG02622.hp1 HG02683.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0005g0093a0001c0001t0005g0101a0001c0001t0006g0169others(3): Show | 6 | 362 | 0.0166 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888874 | TATATA | T | intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0197a0001c0001t0001g0315a0001c0001t0017g0287 | 3 | 362 | 0.0083 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888876 | TATATA | T | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0012a0001c0001t0001g0199a0001c0001t0001g0220others(7): Show | 11 | 362 | 0.0304 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888877 | ATATAT | A | intron_variant | MODIFIER | HG01978.hp1 HG02698.hp2 HG03239.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0017 | a0001c0001t0001g0239a0001c0001t0001g0271a0001c0001t0001g0274others(6): Show | 9 | 362 | 0.0249 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH1_chr8_18050992_18089107 | 18063308 | ATTAAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0207a0001c0001t0001g0208 | 6 | 420 | 0.0143 | -5 | c.458 others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 6/13 | chr8 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18082903 | AATTTT | A | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG01109.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0226a0001c0001t0001g0230a0001c0001t0001g0231others(17): Show | 25 | 420 | 0.0595 | -5 | c.78+ others(20): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18086288 | AAAATT | A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01099.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0197a0001c0001t0001g0230a0001c0001t0001g0231others(19): Show | 27 | 420 | 0.0643 | -5 | c.-22 others(16): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 2182 | chr8 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50742562 | ATTTTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(134): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(47): Show | 137 | 414 | 0.3309 | -5 | c.-99 others(20): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50744429 | CTCATA | C | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02559.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0054others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0104a0001c0001t0027g0059others(5): Show | 15 | 414 | 0.0362 | -5 | c.-3- others(18): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50220836 | CAAAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG02258.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0007a0001c0011others(3): Show | a0001c0004t0020a0001c0004t0090a0001c0007t0020others(7): Show | a0001c0004t0020g0290a0001c0004t0020g0291a0001c0004t0090g0348others(12): Show | 15 | 408 | 0.0368 | -5 | c.894 others(22): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130093666 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0019 | a0001c0001t0008g0011a0001c0001t0008g0017a0001c0001t0008g0021others(3): Show | 6 | 308 | 0.0195 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01167.hp2 others(7): Show |
a0001a0002 | a0001c0005a0001c0006a0002c0003 | a0001c0005t0001a0001c0005t0005a0001c0005t0007others(2): Show | a0001c0005t0001g0166a0001c0005t0005g0285a0001c0005t0007g0003others(7): Show | 10 | 308 | 0.0325 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130107514 | AAATGT | A | intron_variant | MODIFIER | HG01167.hp2 HG01496.hp2 HG01975.hp1 |
a0001a0004 | a0001c0001a0001c0005a0004c0012 | a0001c0001t0030a0001c0005t0007a0004c0012t0027 | a0001c0001t0030g0046a0001c0005t0007g0003a0004c0012t0027g0233 | 3 | 308 | 0.0097 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTTTT | G | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp2 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0009t0001others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0281others(8): Show | 11 | 308 | 0.0357 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130200273 | ATAAAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0019 | a0001c0001t0008g0011a0001c0001t0008g0017a0001c0001t0008g0021others(3): Show | 6 | 308 | 0.0195 | -5 | c.406 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 5/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130215975 | AAAAGG | A | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG01255.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0167a0001c0001t0001g0278a0001c0001t0001g0280others(20): Show | 23 | 308 | 0.0747 | -5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130216043 | GGAAAA | G | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(1): Show | 4 | 308 | 0.0130 | -5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130216061 | AAAAGG | A | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01169.hp1 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0013others(2): Show | a0002c0002t0001g0009a0002c0002t0001g0066a0002c0002t0001g0084others(21): Show | 24 | 308 | 0.0779 | -5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262415 | AAAGAG | A | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01358.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0158a0001c0001t0002g0024others(3): Show | 6 | 308 | 0.0195 | -5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262417 | AGAGAG | A | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp2 NA18973.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0241a0001c0001t0002g0054a0001c0001t0007g0004others(1): Show | 4 | 308 | 0.0130 | -5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGA | G | intron_variant | MODIFIER | HG01175.hp2 HG01256.hp1 HG01943.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0001a0002c0003t0010 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(3): Show | 6 | 308 | 0.0195 | -5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130363373 | AAAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0002c0002t0001g0014others(31): Show | 34 | 308 | 0.1104 | -5 | c.60- others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130445972 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG02257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0020others(10): Show | 13 | 308 | 0.0422 | -5 | c.-25 others(16): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2299 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9348323 | TCAGCC | T | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0009a0001c0002t0019a0001c0013t0017 | a0001c0002t0009g0031a0001c0002t0009g0208a0001c0002t0019g0164others(1): Show | 4 | 210 | 0.0191 | -5 | c.102 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 11/27 | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9395594 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00738.hp2 others(18): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0003t0004a0001c0012t0003others(2): Show | a0001c0002t0003g0026a0001c0002t0003g0050a0001c0002t0003g0052others(18): Show | 21 | 210 | 0.1000 | -5 | c.268 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP3_chr1_23423563_23489179 | 23464659 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(45): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0177a0001c0001t0001g0178others(43): Show | 48 | 346 | 0.1387 | -5 | c.130 others(22): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15278635 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0014a0002c0002t0004 | a0001c0001t0004g0154a0001c0001t0004g0165a0001c0001t0004g0172others(7): Show | 11 | 306 | 0.0360 | -5 | c.*48 others(16): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 3061 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15284266 | AAAAAG | A | intron_variant | MODIFIER | HG02622.hp1 | a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0111 | 1 | 306 | 0.0033 | -5 | c.848 others(20): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 6/6 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15286663 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0002g0099a0001c0001t0004g0154a0001c0001t0004g0165others(8): Show | 12 | 306 | 0.0392 | -5 | c.847 others(22): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 6/6 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15305773 | TTTATC | T | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02976.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0004c0004t0008 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0133others(3): Show | 6 | 306 | 0.0196 | -5 | c.182 others(22): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15309967 | CAAAAA | C | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0012a0001c0001t0009g0101a0001c0001t0009g0102others(2): Show | 6 | 306 | 0.0196 | -5 | c.181 others(22): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15319039 | TAAAAA | T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02293.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0022 | a0001c0001t0006g0252a0001c0001t0006g0255a0001c0001t0006g0256others(7): Show | 11 | 306 | 0.0360 | -5 | c.-34 others(16): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 3400 | chrX | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5652022 | AAAACC | A | intron_variant | MODIFIER | HG02615.hp2 HG03540.hp1 HG03710.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0066a0001c0001t0001g0410a0001c0001t0002g0040others(3): Show | 6 | 446 | 0.0135 | -5 | c.232 others(20): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5662565 | GGAGAA | G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0002g0004others(14): Show | 20 | 446 | 0.0448 | -5 | c.43+ others(20): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123619179 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00621.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0008a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0008g0326a0001c0001t0008g0327a0001c0002t0001g0010others(32): Show | 35 | 380 | 0.0921 | -5 | c.451 others(22): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620549 | TATATA | T | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02109.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0001 | a0001c0001t0002g0123a0001c0001t0006g0034a0001c0001t0006g0035others(1): Show | 4 | 380 | 0.0105 | -5 | c.451 others(22): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620552 | ATATTT | A | intron_variant | MODIFIER | NA18959.hp1 NA18963.hp1 NA18971.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0009a0001c0001t0030a0001c0002t0001others(3): Show | a0001c0001t0009g0073a0001c0001t0030g0288a0001c0002t0001g0093others(3): Show | 6 | 380 | 0.0158 | -5 | c.451 others(22): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620554 | ATTTTT | A | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG02145.hp1 others(4): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0004g0138a0001c0001t0004g0241a0001c0002t0001g0095others(4): Show | 7 | 380 | 0.0184 | -5 | c.451 others(22): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB16_chr17_44165704_44184084 | 44178485 | CTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG02965.hp2 HG03098.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0105a0002c0002t0005g0106a0002c0002t0005g0130 | 3 | 362 | 0.0083 | -5 | c.*96 others(13): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 5/5 | 96 | chr17 | TogoVar | |||||
ASB17_chr1_75913873_75937404 | 75916962 | CAGATA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp1 others(40): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0004 | a0001c0001t0001a0001c0005t0001a0004c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0043others(9): Show | 43 | 412 | 0.1044 | -5 | c.*19 others(16): Show |
ASB17 | ENSG00000154007.7 | transcript | ENST00000284142.7 | protein_coding | 1910 | chr1 | TogoVar | ||||||
ASB17_chr1_75913873_75937404 | 75920758 | GCTTTT | G | intron_variant | MODIFIER | HG00597.hp2 HG02056.hp1 HG02155.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0090a0001c0001t0001g0092a0001c0001t0001g0094others(3): Show | 13 | 412 | 0.0316 | -5 | c.681 others(22): Show |
ASB17 | ENSG00000154007.7 | transcript | ENST00000284142.7 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236207815 | CTGACT | C | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0004 | a0001c0003t0006a0001c0008t0003a0003c0004t0004 | a0001c0003t0006g0218a0001c0008t0003g0003a0001c0008t0003g0077others(3): Show | 7 | 250 | 0.0280 | -5 | c.110 others(24): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236246346 | CAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG02451.hp2 HG02818.hp2 others(11): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0226a0001c0001t0001g0230a0001c0001t0002g0227others(10): Show | 14 | 250 | 0.0560 | -5 | c.206 others(22): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar |