view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM47_chr19_50780728_50791160 | 50782542 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
50 | 119 | 0.4202 | 9 | c.*32 others(20): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 3185 | chr19 | TogoVar | |||||||
SMIM8_chr6_87317588_87347329 | 87345916 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(58): Show |
82 | 297 | 0.2761 | 9 | c.*56 others(20): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3588 | chr6 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129499488 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(19): Show |
52 | 86 | 0.6047 | 9 | c.-33 others(20): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3042 | chr7 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129516215 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show |
35 | 62 | 0.5645 | 9 | c.*37 others(20): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3298 | chr7 | TogoVar | |||||||
SMPDL3B_chr1_27930000_27964152 | 27940445 | A | ACGTTCTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(409): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(220): Show |
412 | 429 | 0.9604 | 9 | c.62- others(24): Show |
SMPDL3B | ENSG00000130768.15 | transcript | ENST00000373894.8 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21965584 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0003g0004 others(7): Show |
10 | 11 | 0.9091 | 9 | c.50- others(24): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21980429 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG03710.hp1 HG03831.hp2 HG04115.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0081 others(3): Show |
6 | 107 | 0.0561 | 9 | c.750 others(26): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54188267 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03017.hp2 HG03453.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0006g0036 others(4): Show |
8 | 195 | 0.0410 | 9 | c.-10 others(26): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64566561 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG02280.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0028a0003c0006t0008 | a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0088 others(3): Show |
6 | 47 | 0.1277 | 9 | c.101 others(28): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573221 | G | GAGGAGGG others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(17): Show |
20 | 150 | 0.1333 | 9 | c.858 others(26): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64584361 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02257.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0160 others(17): Show |
20 | 150 | 0.1333 | 9 | c.486 others(24): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 6/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64621952 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18906.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0004a0001c0002t0012 | a0001c0001t0008g0043 a0001c0002t0004g0010 a0001c0002t0012g0170 |
3 | 123 | 0.0244 | 9 | c.53- others(26): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631272 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0027a0001c0003t0002a0001c0003t0003 | a0001c0001t0027g0144 a0001c0003t0002g0138 a0001c0003t0002g0139 others(3): Show |
6 | 168 | 0.0357 | 9 | c.53- others(26): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246036720 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG02451.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0002g0063 others(7): Show |
10 | 62 | 0.1613 | 9 | c.532 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246054873 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01981.hp2 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0002t0001g0012 others(4): Show |
7 | 60 | 0.1167 | 9 | c.532 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246204552 | C | CTTCAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0031 others(46): Show |
49 | 150 | 0.3267 | 9 | c.531 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246248631 | C | CTTGTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02257.hp1 |
a0002 | a0002c0007a0002c0008 | a0002c0007t0001a0002c0008t0001 | a0002c0007t0001g0140 a0002c0008t0001g0112 a0002c0008t0001g0145 |
3 | 99 | 0.0303 | 9 | c.531 others(28): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246273135 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02622.hp2 HG02809.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(8): Show | a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 others(14): Show |
17 | 63 | 0.2698 | 9 | c.531 others(28): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1795747 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01081.hp1 others(34): Show |
a0005a0006a0008others(7): Show | a0005c0004a0006c0005a0008c0008others(8): Show | a0005c0004t0003a0006c0005t0005a0006c0005t0006others(12): Show | a0005c0004t0003g0205 a0006c0005t0005g0006 a0006c0005t0005g0007 others(29): Show |
37 | 174 | 0.2126 | 9 | c.153 others(28): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49991714 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp2 others(70): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(3): Show |
73 | 113 | 0.6460 | 9 | c.*36 others(20): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2829 | chr20 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88679775 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01978.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0161 a0001c0001t0001g0167 others(8): Show |
12 | 37 | 0.3243 | 9 | c.698 others(26): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88679775 | A | AAAGAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0009 a0001c0001t0007g0069 a0001c0001t0007g0078 |
7 | 32 | 0.2188 | 9 | c.698 others(26): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88682762 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01123.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0002g0138 a0001c0001t0003g0026 others(11): Show |
18 | 65 | 0.2769 | 9 | c.77- others(24): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42525451 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0015 | a0001c0001t0001g0026 a0001c0001t0001g0149 a0001c0001t0001g0150 others(8): Show |
13 | 80 | 0.1625 | 9 | c.267 others(26): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10238905 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0282 a0001c0001t0001g0318 a0001c0001t0002g0320 others(2): Show |
5 | 275 | 0.0182 | 9 | c.-64 others(28): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10264918 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0274 others(5): Show |
8 | 312 | 0.0256 | 9 | c.-63 others(28): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP29_chr22_20854007_20896214 | 20871482 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01515.hp1 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025a0001c0001t0041 | a0001c0001t0003g0133 a0001c0001t0003g0152 a0001c0001t0003g0153 others(5): Show |
8 | 265 | 0.0302 | 9 | c.434 others(24): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61762981 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01255.hp2 others(27): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 others(23): Show |
30 | 62 | 0.4839 | 9 | c.128 others(24): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61797175 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00738.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(10): Show | a0001c0001t0004g0003 a0001c0001t0004g0036 a0001c0001t0004g0038 others(30): Show |
39 | 216 | 0.1806 | 9 | c.*21 others(20): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 748 | chr14 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122351536 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01515.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0029 others(3): Show |
6 | 29 | 0.2069 | 9 | c.-47 others(28): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127766771 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(28): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0002a0001c0002t0001a0001c0002t0007others(1): Show | a0001c0001t0002g0121 a0001c0002t0001g0185 a0001c0002t0001g0186 others(28): Show |
31 | 41 | 0.7561 | 9 | c.115 others(30): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127926764 | T | TGTTGTAG others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0121 |
3 | 238 | 0.0126 | 9 | c.152 others(28): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241011103 | A | AGGTCTCC others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02486.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0037a0002c0009a0002c0010others(11): Show | a0001c0037t0020a0002c0009t0004a0002c0009t0012others(15): Show | a0001c0037t0020g0030 a0002c0009t0004g0040 a0002c0009t0012g0034 others(16): Show |
19 | 341 | 0.0557 | 9 | c.213 others(28): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241056580 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0060others(18): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(28): Show | a0001c0001t0002g0281 a0001c0001t0002g0297 a0001c0001t0005g0134 others(42): Show |
45 | 126 | 0.3571 | 9 | c.225 others(28): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43322951 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01106.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0114 a0001c0001t0001g0117 others(7): Show |
10 | 16 | 0.6250 | 9 | c.590 others(26): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRNP25_chr16_48828_62669 | 52765 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01361.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0004a0003c0006t0003 | a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0003g0030 others(4): Show |
11 | 316 | 0.0348 | 9 | c.-12 others(20): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1062 | chr16 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123457574 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0006 | a0001c0003t0005g0070 a0001c0003t0005g0073 a0001c0003t0005g0074 others(3): Show |
7 | 26 | 0.2692 | 9 | c.-64 others(18): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 564 | chr12 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31291288 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01243.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0267 a0001c0001t0002g0028 a0001c0001t0002g0029 others(30): Show |
38 | 250 | 0.1520 | 9 | c.365 others(24): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101289925 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02040.hp1 NA18943.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0029 a0001c0001t0001g0168 a0001c0001t0001g0169 others(1): Show |
6 | 186 | 0.0323 | 9 | c.309 others(26): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101296655 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02165.hp2 NA18939.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0183 others(3): Show |
7 | 113 | 0.0619 | 9 | c.-14 others(20): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 1408 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101299836 | A | ACTCTCAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0010 |
3 | 440 | 0.0068 | 9 | c.-46 others(20): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 4589 | chr15 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40753384 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 others(3): Show |
6 | 82 | 0.0732 | 9 | c.73+ others(24): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPG_chr2_70276362_70298740 | 70283096 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01361.hp2 HG01975.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0118 others(5): Show |
12 | 256 | 0.0469 | 9 | c.181 others(26): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
SNRPG_chr2_70276362_70298740 | 70283122 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02809.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(6): Show |
15 | 227 | 0.0661 | 9 | c.181 others(26): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69292435 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp1 NA19077.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0002t0015a0001c0002t0037 | a0001c0001t0041g0144 a0001c0002t0015g0065 a0001c0002t0037g0069 |
3 | 183 | 0.0164 | 9 | c.134 others(28): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 49918610 | A | ACATCTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0015 others(21): Show |
24 | 106 | 0.2264 | 9 | c.-10 others(28): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50422270 | A | ATCTATCT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG02055.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0074 others(19): Show |
22 | 24 | 0.9167 | 9 | c.163 others(28): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 4/18 | chr8 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50570591 | G | GTTGTTAT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03540.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0005g0018 a0001c0001t0012g0049 a0001c0001t0024g0058 others(1): Show |
4 | 58 | 0.0690 | 9 | c.810 others(28): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50570591 | G | GTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00741.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(7): Show | a0001c0001t0001g0086 a0001c0001t0002g0010 a0001c0001t0002g0013 others(15): Show |
18 | 72 | 0.2500 | 9 | c.810 others(28): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50701781 | C | CTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 a0001c0001t0006g0066 |
2 | 106 | 0.0189 | 9 | c.103 others(28): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | chr8 | TogoVar |