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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN2B_chr11_118157806_118181639 | 118179408 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0116 |
2 | 450 | 0.0044 | -12 | c.-29 others(23): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2770 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165111484 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01099.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 others(26): Show |
29 | 314 | 0.0924 | -12 | c.384 others(31): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 21/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165142723 | GTGTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 | 1 | 314 | 0.0032 | -12 | c.167 others(31): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146378 | ATATATGT others(5): Show |
A | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 314 | 0.0032 | -12 | c.167 others(29): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146380 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03516.hp2 NA20300.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0001 a0001c0005t0002g0055 |
3 | 314 | 0.0096 | -12 | c.167 others(29): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146382 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp2 NA19030.hp2 |
a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0205 a0002c0015t0001g0206 |
2 | 314 | 0.0064 | -12 | c.167 others(29): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165156512 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(93): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0068 others(92): Show |
96 | 314 | 0.3057 | -12 | c.103 others(29): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 9/27 | chr2 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123625936 | AAGAGAGA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0028 | 2 | 450 | 0.0044 | -12 | c.*78 others(23): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3251 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644852 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0339 a0001c0001t0024g0342 |
2 | 450 | 0.0044 | -12 | c.219 others(27): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123655763 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0034 | a0001c0001t0001g0242 a0001c0001t0002g0241 a0001c0001t0034g0060 |
3 | 450 | 0.0067 | -12 | c.-15 others(23): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 1140 | chr11 | TogoVar | |||||||
SCN4A_chr17_63933554_63977918 | 63942258 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02486.hp1 others(14): Show |
a0001a0006a0028 | a0001c0006a0001c0011a0001c0013others(8): Show | a0001c0006t0007a0001c0006t0018a0001c0011t0004others(10): Show | a0001c0006t0007g0022 a0001c0006t0007g0023 a0001c0006t0018g0138 others(12): Show |
17 | 356 | 0.0478 | -12 | c.428 others(29): Show |
SCN4A | ENSG00000007314.12 | transcript | ENST00000435607.3 | protein_coding | 23/23 | chr17 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38543952 | CAGCCTTG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0256 | 1 | 340 | 0.0029 | -12 | c.*63 others(23): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 4109 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555095 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0290 | 1 | 340 | 0.0029 | -12 | c.454 others(29): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38572871 | TGTATATA others(5): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0121 | 1 | 340 | 0.0029 | -12 | c.366 others(31): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 20/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38572872 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0196 others(229): Show |
234 | 340 | 0.6882 | -12 | c.366 others(31): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 20/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38597256 | GTCCATCC others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0107 |
2 | 340 | 0.0059 | -12 | c.226 others(29): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 14/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414267 | CACACATA others(5): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0117 | 1 | 394 | 0.0025 | -12 | c.341 others(31): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414281 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 NA18947.hp2 NA18956.hp1 others(7): Show |
a0004a0011 | a0004c0004a0011c0015 | a0004c0004t0005a0011c0015t0005 | a0004c0004t0005g0014 a0004c0004t0005g0273 a0004c0004t0005g0275 others(6): Show |
10 | 394 | 0.0254 | -12 | c.341 others(31): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166464154 | ATATACAC others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp2 others(76): Show |
a0001a0007a0012others(6): Show | a0001c0001a0001c0009a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0077 a0001c0001t0001g0226 a0001c0001t0001g0228 others(73): Show |
79 | 394 | 0.2005 | -12 | c.941 others(29): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 9/25 | chr2 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51618458 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00733.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003a0001c0014others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0012others(2): Show | a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0140 others(19): Show |
22 | 202 | 0.1089 | -12 | c.-55 others(31): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51639879 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0001 | a0001c0001t0019g0155 a0001c0002t0001g0170 |
2 | 202 | 0.0099 | -12 | c.-54 others(31): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51640212 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02056.hp1 HG02572.hp1 HG02615.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0024 a0001c0001t0003g0015 a0001c0001t0003g0017 others(25): Show |
28 | 202 | 0.1386 | -12 | c.-54 others(31): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51747081 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 202 | 0.0050 | -12 | c.213 others(31): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166191718 | CACACATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0246 | 1 | 296 | 0.0034 | -12 | c.*69 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3466 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166199975 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG03139.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0003t0001a0001c0007t0005 | a0001c0001t0001g0076 a0001c0001t0001g0148 a0001c0003t0001g0238 others(1): Show |
4 | 296 | 0.0135 | -12 | c.477 others(29): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 26/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166218596 | AATCTAAA others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0004 | a0004c0008 | a0004c0008t0022 | a0004c0008t0022g0010 | 1 | 296 | 0.0034 | -12 | c.439 others(31): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166220478 | GTGTATCA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(289): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(121): Show | a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 others(288): Show |
292 | 296 | 0.9865 | -12 | c.439 others(31): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166222933 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp1 NA19240.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0012a0001c0007t0012 | a0001c0003t0012g0261 a0001c0007t0012g0018 |
2 | 296 | 0.0068 | -12 | c.439 others(31): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166235851 | TACATACC others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02615.hp2 others(9): Show |
a0001a0004a0012 | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0006a0001c0003t0002a0001c0003t0006others(6): Show | a0001c0002t0006g0269 a0001c0003t0002g0205 a0001c0003t0006g0078 others(9): Show |
12 | 296 | 0.0405 | -12 | c.380 others(31): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 20/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166311329 | CCTATATA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0289 | 1 | 296 | 0.0034 | -12 | c.258 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166311330 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp2 HG04228.hp1 |
a0002a0012 | a0002c0015a0012c0031 | a0002c0015t0005a0012c0031t0006 | a0002c0015t0005g0058 a0012c0031t0006g0191 a0012c0031t0006g0192 |
3 | 296 | 0.0101 | -12 | c.258 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340540 | CCCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02040.hp2 HG03492.hp2 others(1): Show |
a0001a0003a0015 | a0001c0002a0001c0003a0003c0013others(1): Show | a0001c0002t0035a0001c0003t0001a0003c0013t0003others(1): Show | a0001c0002t0035g0295 a0001c0003t0001g0238 a0003c0013t0003g0217 others(1): Show |
4 | 296 | 0.0135 | -12 | c.-50 others(31): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340541 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0071 a0001c0001t0001g0180 a0001c0001t0001g0186 others(12): Show |
15 | 296 | 0.0507 | -12 | c.-50 others(31): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166358034 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01243.hp2 others(24): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0021others(18): Show | a0001c0002t0001g0017 a0001c0002t0001g0280 a0001c0002t0006g0269 others(24): Show |
27 | 296 | 0.0912 | -12 | c.-51 others(31): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166370192 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG02015.hp1 others(1): Show |
a0001a0015a0027 | a0001c0002a0015c0048a0027c0049 | a0001c0002t0001a0015c0048t0003a0027c0049t0004 | a0001c0002t0001g0232 a0001c0002t0001g0235 a0015c0048t0003g0234 others(1): Show |
4 | 296 | 0.0135 | -12 | c.-51 others(29): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23309410 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0001 | a0001c0001t0001g0001 a0001c0003t0001g0139 a0001c0008t0001g0148 |
3 | 306 | 0.0098 | -12 | c.-9+ others(27): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23333149 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02129.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 others(4): Show |
7 | 306 | 0.0229 | -12 | c.-8- others(29): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23333202 | GAAGGAAG others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 306 | 0.0033 | -12 | c.-8- others(29): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23343471 | AAAGAAAG others(5): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0299 a0001c0001t0002g0042 |
2 | 306 | 0.0065 | -12 | c.-8- others(27): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23343475 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 306 | 0.0033 | -12 | c.-8- others(27): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23343581 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01167.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0070 others(13): Show |
16 | 306 | 0.0523 | -12 | c.-8- others(27): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23343639 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 306 | 0.0033 | -12 | c.-8- others(27): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23346200 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG02055.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001a0001c0008t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0124 others(4): Show |
7 | 306 | 0.0229 | -12 | c.-8- others(27): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23365583 | GAAAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 306 | 0.0033 | -12 | c.777 others(29): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23181743 | AAAGGAAG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01106.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0001g0184 a0001c0001t0005g0235 a0001c0001t0013g0313 others(11): Show |
14 | 320 | 0.0438 | -12 | c.-11 others(23): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 1001 | chr16 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23185985 | CGGCTAGG others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
a0002 | a0002c0006a0002c0010 | a0002c0006t0007a0002c0010t0003 | a0002c0006t0007g0022 a0002c0006t0007g0023 a0002c0006t0007g0024 others(1): Show |
4 | 320 | 0.0125 | -12 | c.-44 others(27): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23190263 | AAGAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 320 | 0.0063 | -12 | c.618 others(27): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204288 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0059 others(9): Show |
12 | 320 | 0.0375 | -12 | c.107 others(31): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204324 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA18945.hp2 NA18971.hp2 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0267 a0001c0002t0004g0268 a0001c0002t0004g0311 |
3 | 320 | 0.0094 | -12 | c.107 others(31): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204326 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA19030.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0169 a0001c0002t0004g0275 |
2 | 320 | 0.0063 | -12 | c.107 others(31): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |