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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC2H1_chr11_103104426_103484863 | 103411032 | AGACCAG | A | intron_variant | MODIFIER | NA18944.hp2 NA18960.hp1 NA18975.hp2 others(7): Show |
a0001 | a0001c0006a0001c0041 | a0001c0006t0001a0001c0041t0001 | a0001c0006t0001g0049a0001c0006t0001g0051a0001c0006t0001g0052others(7): Show | 10 | 262 | 0.0382 | -6 | c.123 others(29): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 84/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103446037 | TTTGTTG | T | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00639.hp2 others(100): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0008others(29): Show | a0001c0001t0001a0001c0005t0001a0001c0008t0001others(31): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0109others(100): Show | 103 | 262 | 0.3931 | -6 | c.124 others(27): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 85/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103453615 | CATATAT | C | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01256.hp1 others(25): Show |
a0001a0002a0008others(6): Show | a0001c0001a0001c0005a0001c0008others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0008t0001others(12): Show | a0001c0001t0001g0196a0001c0001t0001g0237a0001c0001t0001g0240others(25): Show | 28 | 262 | 0.1069 | -6 | c.124 others(27): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 85/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103457560 | AAAACTT | A | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp2 HG02145.hp1 others(6): Show |
a0002a0003a0006others(2): Show | a0002c0016a0003c0002a0006c0012others(2): Show | a0002c0016t0001a0003c0002t0001a0006c0012t0001others(2): Show | a0002c0016t0001g0257a0003c0002t0001g0131a0006c0012t0001g0206others(6): Show | 9 | 262 | 0.0344 | -6 | c.126 others(27): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 87/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103470418 | CTCTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(44): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(15): Show | a0001c0001t0001g0101a0001c0001t0001g0122a0001c0001t0001g0123others(44): Show | 47 | 262 | 0.1794 | -6 | c.127 others(27): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 88/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02886.hp1 others(5): Show |
a0002a0007a0017others(1): Show | a0002c0007a0007c0013a0017c0056others(1): Show | a0002c0007t0001a0007c0013t0001a0017c0056t0001others(1): Show | a0002c0007t0001g0003a0002c0007t0001g0004a0002c0007t0001g0005others(5): Show | 8 | 262 | 0.0305 | -6 | c.*37 others(17): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158889036 | TACACAC | T | intron_variant | MODIFIER | HG02015.hp1 HG02155.hp1 NA18951.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0264a0003c0003t0004g0266a0003c0003t0004g0267 | 3 | 274 | 0.0110 | -6 | c.990 others(23): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2LI1_chr2_43769039_43815010 | 43775668 | CTTTTCT | C | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 HG06807.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042a0002c0002t0002g0043a0002c0002t0002g0044others(1): Show | 4 | 294 | 0.0136 | -6 | c.9-1 others(19): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNC2LI1_chr2_43769039_43815010 | 43808964 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp2 others(29): Show |
a0002a0003a0012 | a0002c0002a0003c0003a0012c0007 | a0002c0002t0001a0002c0002t0002a0003c0003t0002others(4): Show | a0002c0002t0001g0220a0002c0002t0002g0007a0002c0002t0002g0037others(26): Show | 32 | 294 | 0.1088 | -6 | c.994 others(21): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNLRB1_chr20_34511422_34545958 | 34522385 | TTATACC | T | intron_variant | MODIFIER | HG01361.hp2 HG01433.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0238a0001c0001t0001g0245 | 4 | 384 | 0.0104 | -6 | c.4-3 others(19): Show |
DYNLRB1 | ENSG00000125971.18 | transcript | ENST00000357156.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DYNLT2B_chr3_196286219_196323240 | 196316934 | GGTGTGT | G | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0059a0001c0001t0001g0145 | 4 | 330 | 0.0121 | -6 | c.114 others(21): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196317154 | AGTGTGT | A | intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0057a0001c0001t0001g0068others(3): Show | 7 | 330 | 0.0212 | -6 | c.113 others(21): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
DYNLT3_chrX_37833836_37852571 | 37834545 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0023a0001c0002t0001g0053a0001c0002t0002g0045others(2): Show | 8 | 324 | 0.0247 | -6 | c.*60 others(17): Show |
DYNLT3 | ENSG00000165169.11 | transcript | ENST00000378578.9 | protein_coding | 4290 | chrX | TogoVar | ||||||
DYNLT3_chrX_37833836_37852571 | 37840787 | CACATAT | C | intron_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0003g0095a0001c0001t0004g0020a0001c0001t0004g0054others(10): Show | 19 | 324 | 0.0586 | -6 | c.275 others(21): Show |
DYNLT3 | ENSG00000165169.11 | transcript | ENST00000378578.9 | protein_coding | 4/4 | chrX | TogoVar | ||||||
DYNLT3_chrX_37833836_37852571 | 37840803 | TATATAC | T | intron_variant | MODIFIER | HG01175.hp2 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0029a0001c0002t0003g0102 | 3 | 324 | 0.0093 | -6 | c.275 others(21): Show |
DYNLT3 | ENSG00000165169.11 | transcript | ENST00000378578.9 | protein_coding | 4/4 | chrX | TogoVar | ||||||
DYNLT5_chr1_66747459_66784047 | 66750034 | GGGGTGT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(98): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(8): Show | a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0042others(46): Show | 101 | 402 | 0.2512 | -6 | c.-25 others(17): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 2424 | chr1 | TogoVar | ||||||
DYNLT5_chr1_66747459_66784047 | 66750036 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0048a0001c0001t0005g0061others(3): Show | 11 | 402 | 0.0274 | -6 | c.-25 others(17): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 2422 | chr1 | TogoVar | ||||||
DYNLT5_chr1_66747459_66784047 | 66776545 | ATATGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp1 others(50): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010 | a0003c0003t0002g0007a0003c0003t0002g0011a0003c0003t0002g0012others(28): Show | 53 | 402 | 0.1318 | -6 | c.336 others(21): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37372289 | CAAAACA | C | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0169a0001c0001t0170others(1): Show | a0001c0001t0045g0318a0001c0001t0045g0320a0001c0001t0169g0319others(2): Show | 5 | 350 | 0.0143 | -6 | c.-77 others(23): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37375519 | CTTTTTT | C | intron_variant | MODIFIER | HG01169.hp1 HG02630.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0087a0001c0001t0100others(1): Show | a0001c0001t0023g0013a0001c0001t0023g0015a0001c0001t0023g0016others(3): Show | 6 | 350 | 0.0171 | -6 | c.-77 others(23): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37383832 | GGTGTAT | G | intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0150 | a0001c0001t0042g0131a0001c0001t0042g0132a0001c0001t0150g0130 | 3 | 350 | 0.0086 | -6 | c.-77 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37403634 | TAAAAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG02258.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023a0001c0001t0049others(4): Show | a0001c0001t0007g0144a0001c0001t0007g0146a0001c0001t0023g0013others(5): Show | 8 | 350 | 0.0229 | -6 | c.-76 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37403644 | AAAAAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00733.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0012a0001c0001t0015others(10): Show | a0001c0001t0007g0135a0001c0001t0007g0137a0001c0001t0007g0139others(19): Show | 22 | 350 | 0.0629 | -6 | c.-76 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37403663 | ATGTGTG | A | intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 HG02735.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0021others(5): Show | a0001c0001t0002g0212a0001c0001t0002g0218a0001c0001t0002g0219others(11): Show | 14 | 350 | 0.0400 | -6 | c.-76 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37440130 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0126a0001c0001t0169others(2): Show | a0001c0001t0045g0318a0001c0001t0045g0320a0001c0001t0126g0239others(3): Show | 6 | 350 | 0.0171 | -6 | c.10+ others(23): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37446408 | CAAAATG | C | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0155 | a0001c0001t0023g0013a0001c0001t0023g0015a0001c0001t0023g0016others(1): Show | 4 | 350 | 0.0114 | -6 | c.10+ others(23): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37463203 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0106a0001c0001t0002g0113a0001c0001t0002g0117others(80): Show | 85 | 350 | 0.2429 | -6 | c.11- others(21): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37495152 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00609.hp1 others(70): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(32): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(70): Show | 73 | 350 | 0.2086 | -6 | c.107 others(23): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1B_chr19_39820350_39839162 | 39823575 | GCGCGCA | G | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02809.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 372 | 0.0108 | -6 | c.*21 others(17): Show |
DYRK1B | ENSG00000105204.14 | transcript | ENST00000323039.10 | protein_coding | 1774 | chr19 | TogoVar | ||||||
DYRK1B_chr19_39820350_39839162 | 39823577 | GCGCACA | G | downstream_gene_variant | MODIFIER | HG02071.hp1 HG03834.hp1 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(1): Show | 6 | 372 | 0.0161 | -6 | c.*21 others(17): Show |
DYRK1B | ENSG00000105204.14 | transcript | ENST00000323039.10 | protein_coding | 1772 | chr19 | TogoVar | ||||||
DYRK1B_chr19_39820350_39839162 | 39823579 | GCACACA | G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01261.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 3 | 372 | 0.0081 | -6 | c.*21 others(17): Show |
DYRK1B | ENSG00000105204.14 | transcript | ENST00000323039.10 | protein_coding | 1770 | chr19 | TogoVar | ||||||
DYRK2_chr12_67643745_67670406 | 67653042 | TTGGTTA | T | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02717.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0024a0001c0003t0025 | a0001c0003t0005g0008a0001c0003t0005g0018a0001c0003t0005g0045others(2): Show | 14 | 390 | 0.0359 | -6 | c.198 others(23): Show |
DYRK2 | ENSG00000127334.11 | transcript | ENST00000344096.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DYRK3_chr1_206630536_206660158 | 206656247 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG02572.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0028a0001c0008t0030 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0085others(3): Show | 6 | 396 | 0.0152 | -6 | c.*72 others(17): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 1090 | chr1 | TogoVar | ||||||
DYRK3_chr1_206630536_206660158 | 206659808 | GCACACA | G | downstream_gene_variant | MODIFIER | HG01257.hp2 HG02055.hp2 HG02615.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0033others(13): Show | 18 | 396 | 0.0455 | -6 | c.*10 others(19): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 4651 | chr1 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71473918 | ATTTTTT | A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01175.hp1 others(23): Show |
a0001a0006a0011 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0043a0001c0001t0002g0156a0001c0001t0002g0163others(23): Show | 26 | 192 | 0.1354 | -6 | c.89- others(21): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 1/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71502079 | CTGTGTG | C | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01255.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(11): Show | a0001c0001t0001g0089a0001c0001t0001g0098a0001c0001t0002g0172others(12): Show | 15 | 192 | 0.0781 | -6 | c.237 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 3/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71534021 | CCCCACA | C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02615.hp2 others(8): Show |
a0001a0003a0005others(1): Show | a0001c0007a0001c0018a0001c0019others(5): Show | a0001c0007t0001a0001c0007t0002a0001c0018t0001others(6): Show | a0001c0007t0001g0063a0001c0007t0002g0014a0001c0007t0002g0016others(8): Show | 11 | 192 | 0.0573 | -6 | c.128 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 13/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71543924 | AGGAGAG | A | intron_variant | MODIFIER | HG01255.hp2 HG03017.hp2 HG03490.hp2 others(1): Show |
a0001a0015 | a0001c0004a0001c0005a0001c0013others(1): Show | a0001c0004t0001a0001c0005t0001a0001c0013t0001others(1): Show | a0001c0004t0001g0149a0001c0005t0001g0056a0001c0013t0001g0057others(1): Show | 4 | 192 | 0.0208 | -6 | c.148 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 16/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71583043 | CAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02922.hp2 others(4): Show |
a0001a0005a0017 | a0001c0004a0001c0038a0001c0048others(3): Show | a0001c0004t0003a0001c0038t0001a0001c0048t0002others(3): Show | a0001c0004t0003g0065a0001c0004t0003g0084a0001c0038t0001g0061others(4): Show | 7 | 192 | 0.0365 | -6 | c.334 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 30/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71618926 | CGCTGGG | C | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG02976.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0006t0003a0001c0009t0001others(2): Show | a0001c0001t0001g0192a0001c0006t0003g0007a0001c0009t0001g0053others(2): Show | 5 | 192 | 0.0260 | -6 | c.441 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71635764 | AAGAAAG | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(56): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0078others(56): Show | 59 | 192 | 0.3073 | -6 | c.441 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71640740 | CGTGTGT | C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02809.hp1 others(10): Show |
a0001a0004a0014 | a0001c0001a0001c0004a0001c0009others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(7): Show | a0001c0001t0001g0095a0001c0004t0001g0149a0001c0009t0001g0103others(10): Show | 13 | 192 | 0.0677 | -6 | c.441 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71653875 | TATAAAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp2 others(81): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(44): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(81): Show | 84 | 192 | 0.4375 | -6 | c.451 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 41/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71473918 | ATTTTTT | A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01175.hp2 others(30): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(14): Show | a0001c0001t0001g0137a0001c0001t0002g0154a0001c0001t0002g0158others(30): Show | 33 | 208 | 0.1587 | -6 | c.92- others(21): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71502079 | CTGTGTG | C | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01255.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0002t0001g0052others(15): Show | 18 | 208 | 0.0865 | -6 | c.240 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71534021 | CCCCACA | C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(9): Show |
a0001a0003a0006others(2): Show | a0001c0007a0001c0019a0001c0032others(6): Show | a0001c0007t0001a0001c0007t0002a0001c0007t0004others(8): Show | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(9): Show | 12 | 208 | 0.0577 | -6 | c.138 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71543924 | AGGAGAG | A | intron_variant | MODIFIER | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
a0001a0016 | a0001c0005a0001c0009a0001c0074others(1): Show | a0001c0005t0001a0001c0009t0001a0001c0074t0001others(1): Show | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0074t0001g0094others(1): Show | 4 | 208 | 0.0192 | -6 | c.157 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71583043 | CAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02922.hp2 others(5): Show |
a0001a0006a0018 | a0001c0004a0001c0040a0001c0050others(3): Show | a0001c0004t0003a0001c0040t0001a0001c0050t0001others(3): Show | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(5): Show | 8 | 208 | 0.0385 | -6 | c.340 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618926 | CGCTGGG | C | intron_variant | MODIFIER | HG01167.hp2 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0001a0001c0006t0003a0001c0012t0001others(1): Show | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(3): Show | 6 | 208 | 0.0289 | -6 | c.446 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71635764 | AAGAAAG | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00642.hp2 others(64): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0049others(64): Show | 67 | 208 | 0.3221 | -6 | c.452 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |