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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOK7_chr4_3458306_3499482 | 3490199 | CCCCCCTC others(17): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0011a0001c0001t0002g0016others(9): Show | 15 | 404 | 0.0371 | -24 | c.772 others(39): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DOK7_chr4_3458306_3499482 | 3490504 | TGCTCATT others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0060 | 1 | 404 | 0.0025 | -24 | c.772 others(39): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DOK7_chr4_3458306_3499482 | 3491522 | TTCATTCA others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(301): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0012a0002c0002others(20): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(43): Show | a0001c0001t0002g0063a0001c0001t0002g0069a0001c0001t0002g0135others(279): Show | 304 | 404 | 0.7525 | -24 | c.773 others(41): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577604 | TACACACA others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01515.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015a0001c0001t0017others(3): Show | a0001c0001t0008g0156a0001c0001t0008g0202a0001c0001t0008g0219others(19): Show | 26 | 426 | 0.0610 | -24 | c.*67 others(33): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 679 | chr21 | TogoVar | |||||
DPEP2NB_chr16_68008436_68020911 | 68010049 | TTTCCTTC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 HG03041.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0002g0002others(2): Show | 6 | 362 | 0.0166 | -24 | c.*40 others(35): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 3386 | chr16 | TogoVar | ||||||
DPEP2NB_chr16_68008436_68020911 | 68020857 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 362 | 0.0028 | -24 | c.-51 others(35): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 4947 | chr16 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72863058 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 HG02818.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(9): Show | a0001c0001t0001g0150a0001c0001t0008g0177a0001c0001t0010g0182others(10): Show | 13 | 234 | 0.0556 | -24 | c.32+ others(41): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72892942 | TGGAAGGA others(17): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG00741.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(27): Show | a0001c0001t0002g0054a0001c0001t0002g0056a0001c0001t0002g0074others(34): Show | 37 | 234 | 0.1581 | -24 | c.32+ others(39): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
DPH5_chr1_100984623_101030784 | 100993559 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 282 | 0.0036 | -24 | c.531 others(39): Show |
DPH5 | ENSG00000117543.22 | transcript | ENST00000370109.8 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
DPH5_chr1_100984623_101030784 | 100994215 | ATTTAACT others(17): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 282 | 0.0036 | -24 | c.530 others(39): Show |
DPH5 | ENSG00000117543.22 | transcript | ENST00000370109.8 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
DPH6_chr15_35365880_35551165 | 35543258 | TAATATAT others(17): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG02572.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0195a0002c0002t0001g0196a0002c0002t0001g0198others(6): Show | 9 | 228 | 0.0395 | -24 | c.24- others(37): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 114485554 | TTTGCACT others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG02145.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(8): Show | a0001c0002t0001g0004a0001c0002t0001g0010a0001c0002t0001g0017others(18): Show | 21 | 56 | 0.3750 | -24 | c.60+ others(41): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 114532256 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18970.hp1 NA18986.hp2 NA19079.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0015 | a0001c0002t0001g0019a0001c0002t0001g0028a0002c0001t0015g0018 | 3 | 56 | 0.0536 | -24 | c.60+ others(41): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 114583280 | CTGACAGA others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0021 | 1 | 56 | 0.0179 | -24 | c.60+ others(43): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP4_chr2_161987245_162079215 | 161987696 | TTATATAT others(17): Show |
T | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 292 | 0.0034 | -24 | c.*55 others(35): Show |
DPP4 | ENSG00000197635.11 | transcript | ENST00000360534.8 | protein_coding | 4548 | chr2 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154127628 | CACACAGA others(17): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0034 | 1 | 38 | 0.0263 | -24 | c.243 others(43): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154147446 | TTTCCTTC others(17): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0008 | a0002c0008t0012 | a0002c0008t0012g0001 | 1 | 38 | 0.0263 | -24 | c.243 others(43): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154148230 | ACAGTCGG others(17): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG01433.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0003t0007a0001c0006t0002others(17): Show | a0001c0001t0001g0019a0001c0003t0007g0024a0001c0006t0002g0015others(17): Show | 20 | 38 | 0.5263 | -24 | c.243 others(43): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154305018 | TCCCCAGC others(17): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01071.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0007others(13): Show | a0001c0001t0001g0019a0001c0001t0005g0032a0001c0003t0007g0024others(13): Show | 16 | 38 | 0.4211 | -24 | c.244 others(45): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154575055 | GGTGTGTT others(17): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0006a0001c0007a0001c0011others(4): Show | a0001c0006t0003a0001c0007t0019a0001c0011t0003others(4): Show | a0001c0006t0003g0013a0001c0007t0019g0037a0001c0011t0003g0012others(4): Show | 7 | 38 | 0.1842 | -24 | c.627 others(41): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154779255 | GCCACCAC others(17): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01071.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0016a0001c0020others(4): Show | a0001c0001t0001a0001c0016t0013a0001c0020t0001others(5): Show | a0001c0001t0001g0019a0001c0016t0013g0014a0001c0020t0001g0010others(5): Show | 8 | 38 | 0.2105 | -24 | c.113 others(43): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154779276 | TCCACCAC others(17): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0022 | a0002c0022t0023 | a0002c0022t0023g0027 | 1 | 38 | 0.0263 | -24 | c.113 others(43): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP8_chr15_65437467_65522689 | 65448865 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167a0001c0001t0002g0168 | 2 | 336 | 0.0060 | -24 | c.252 others(43): Show |
DPP8 | ENSG00000074603.19 | transcript | ENST00000300141.11 | protein_coding | 19/19 | chr15 | TogoVar | ||||||
DPY19L2_chr12_63553913_63673493 | 63556220 | ATGTACAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0102 | 1 | 362 | 0.0028 | -24 | c.*42 others(35): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 2692 | chr12 | TogoVar | ||||||
DPY19L2_chr12_63553913_63673493 | 63556294 | ACACGTAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02257.hp2 others(2): Show |
a0003a0006 | a0003c0004a0006c0011 | a0003c0004t0003a0006c0011t0003 | a0003c0004t0003g0103a0003c0004t0003g0104a0003c0004t0003g0105others(2): Show | 5 | 362 | 0.0138 | -24 | c.*41 others(35): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 2618 | chr12 | TogoVar | ||||||
DPYD_chr1_97072743_97926034 | 97134012 | AAAATATA others(17): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 52 | 0.0192 | -24 | c.262 others(45): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | ||||||
DPYD_chr1_97072743_97926034 | 97195634 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG02132.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0014a0003c0003others(3): Show | a0001c0001t0003a0001c0014t0002a0003c0003t0001others(4): Show | a0001c0001t0003g0028a0001c0014t0002g0034a0003c0003t0001g0052others(4): Show | 7 | 52 | 0.1346 | -24 | c.244 others(43): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 19/22 | chr1 | TogoVar | ||||||
DPYD_chr1_97072743_97926034 | 97586465 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 52 | 0.0192 | -24 | c.112 others(43): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 10/22 | chr1 | TogoVar | ||||||
DPYD_chr1_97072743_97926034 | 97751446 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp1 HG02132.hp2 others(3): Show |
a0003a0008 | a0003c0003a0003c0012a0008c0007 | a0003c0003t0002a0003c0003t0004a0003c0012t0002others(1): Show | a0003c0003t0002g0007a0003c0003t0002g0017a0003c0003t0004g0015others(3): Show | 6 | 52 | 0.1154 | -24 | c.234 others(43): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26524801 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 316 | 0.0032 | -24 | c.354 others(43): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DPYSL2_chr8_26509031_26663175 | 26622090 | TTTCCTTC others(17): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 316 | 0.0032 | -24 | c.629 others(41): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DPYSL5_chr2_26843132_26955351 | 26879000 | TCTCCTAT others(17): Show |
T | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 232 | 0.0043 | -24 | c.-4- others(41): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPYSL5_chr2_26843132_26955351 | 26903689 | GACCTTGC others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0026others(112): Show | 115 | 232 | 0.4957 | -24 | c.261 others(41): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPYSL5_chr2_26843132_26955351 | 26931201 | GTGTATAT others(17): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065a0001c0001t0013g0074a0001c0001t0013g0075 | 3 | 232 | 0.0129 | -24 | c.670 others(39): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPYSL5_chr2_26843132_26955351 | 26932188 | AAAGAAAG others(17): Show |
A | intron_variant | MODIFIER | NA19043.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0057a0001c0002t0020g0058 | 2 | 232 | 0.0086 | -24 | c.714 others(39): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DQX1_chr2_74513131_74531231 | 74521744 | CCTCTCCC others(17): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01167.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0015a0001c0001t0003g0024a0001c0001t0003g0026others(3): Show | 17 | 356 | 0.0478 | -24 | c.149 others(41): Show |
DQX1 | ENSG00000144045.14 | transcript | ENST00000404568.4 | protein_coding | 8/11 | chr2 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101926225 | CGACTCAG others(17): Show |
C | downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 396 | 0.0025 | -24 | c.*49 others(35): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 2614 | chr12 | TogoVar | ||||||
DRD3_chr3_114122580_114184052 | 114156725 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0069 | 1 | 360 | 0.0028 | -24 | c.383 others(41): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090368 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 418 | 0.0024 | -24 | c.64+ others(39): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DROSHA_chr5_31395494_31537093 | 31436741 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0007a0001c0017a0001c0025 | a0001c0007t0001a0001c0017t0001a0001c0025t0003 | a0001c0007t0001g0259a0001c0007t0001g0260a0001c0007t0001g0285others(2): Show | 5 | 322 | 0.0155 | -24 | c.294 others(41): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 24/35 | chr5 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31473068 | AAAGGACA others(17): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG02970.hp2 others(2): Show |
a0001a0004 | a0001c0002a0001c0018a0004c0009 | a0001c0002t0001a0001c0018t0001a0004c0009t0002 | a0001c0002t0001g0204a0001c0018t0001g0097a0004c0009t0002g0254others(2): Show | 5 | 322 | 0.0155 | -24 | c.207 others(41): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 16/35 | chr5 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31493937 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0094 | 1 | 322 | 0.0031 | -24 | c.175 others(41): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 12/35 | chr5 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 31032573 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0370 | 1 | 392 | 0.0026 | -24 | c.70- others(37): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 31032585 | TGTGTGCG others(17): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0006 | a0002c0006t0014 | a0002c0006t0014g0332 | 1 | 392 | 0.0026 | -24 | c.70- others(37): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
DSG3_chr18_31442741_31483702 | 31457573 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01081.hp1 others(23): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0014 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(6): Show | a0001c0001t0002g0004a0001c0001t0002g0219a0001c0001t0002g0232others(12): Show | 26 | 346 | 0.0751 | -24 | c.216 others(39): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG3_chr18_31442741_31483702 | 31457577 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0152 | 1 | 346 | 0.0029 | -24 | c.216 others(39): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG3_chr18_31442741_31483702 | 31457581 | CTTTCTTC others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02886.hp1 HG03654.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(1): Show | a0001c0001t0001g0194a0001c0001t0003g0179a0001c0001t0026g0158others(3): Show | 10 | 346 | 0.0289 | -24 | c.216 others(39): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG3_chr18_31442741_31483702 | 31457585 | CTTCTTTC others(17): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0007 | a0007c0008 | a0007c0008t0025 | a0007c0008t0025g0163a0007c0008t0025g0164 | 2 | 346 | 0.0058 | -24 | c.216 others(39): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSTYK_chr1_205137505_205216702 | 205207755 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 348 | 0.0029 | -24 | c.265 others(41): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18638170 | CCCATCCA others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(143): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0185others(143): Show | 146 | 398 | 0.3668 | -24 | c.477 others(41): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |