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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN10A_chr3_38691807_38821217 | 38772721 | CAACAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG01192.hp2 others(27): Show |
a0001a0002a0005others(3): Show | a0001c0003a0001c0006a0001c0008others(9): Show | a0001c0003t0002a0001c0006t0002a0001c0008t0001others(9): Show | a0001c0003t0002g0080 a0001c0003t0002g0086 a0001c0006t0002g0013 others(27): Show |
30 | 372 | 0.0807 | -6 | c.471 others(23): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38907310 | ATGTGTG | A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01109.hp1 others(31): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 others(31): Show |
34 | 314 | 0.1083 | -6 | c.147 others(23): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 14/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38907357 | TACACAC | T | intron_variant | MODIFIER | HG01361.hp2 HG02615.hp2 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0003g0269 others(7): Show |
10 | 314 | 0.0319 | -6 | c.147 others(23): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 14/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38929168 | CACACAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(9): Show | a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 others(88): Show |
91 | 314 | 0.2898 | -6 | c.489 others(23): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38938509 | CATATAT | C | intron_variant | MODIFIER | HG02622.hp1 NA18982.hp1 NA18999.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0002g0144 a0001c0002t0001g0179 a0003c0004t0001g0225 others(1): Show |
4 | 314 | 0.0127 | -6 | c.488 others(23): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38945959 | GAACCAA | G | intron_variant | MODIFIER | HG00408.hp1 HG01978.hp1 HG02071.hp1 others(23): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0018 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0017 others(23): Show |
26 | 314 | 0.0828 | -6 | c.387 others(21): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 6/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38963393 | GATATAT | G | intron_variant | MODIFIER | HG01192.hp1 HG01516.hp2 HG01517.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001a0001c0006t0003others(1): Show | a0001c0001t0002g0110 a0001c0006t0001g0313 a0001c0006t0003g0290 others(11): Show |
14 | 314 | 0.0446 | -6 | c.-27 others(25): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38987301 | TCTCACA | T | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0001a0006 | a0001c0005a0001c0009a0006c0022 | a0001c0005t0001a0001c0009t0007a0006c0022t0001 | a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 others(17): Show |
20 | 314 | 0.0637 | -6 | c.-27 others(27): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38987303 | TCACACA | T | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp2 HG01071.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0001c0007others(6): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0010others(7): Show | a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0006t0001g0313 others(36): Show |
39 | 314 | 0.1242 | -6 | c.-27 others(27): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 39038238 | GGTTGGT | G | intron_variant | MODIFIER | HG02015.hp2 HG02027.hp2 HG02040.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0072 others(7): Show |
10 | 314 | 0.0319 | -6 | c.-40 others(25): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 165989028 | CTGTGTG | C | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG01433.hp2 HG02027.hp1 others(9): Show |
a0002a0006a0007 | a0002c0002a0002c0019a0006c0015others(1): Show | a0002c0002t0007a0002c0002t0075a0002c0019t0007others(2): Show | a0002c0002t0007g0092 a0002c0002t0007g0137 a0002c0002t0007g0139 others(9): Show |
12 | 356 | 0.0337 | -6 | c.*22 others(17): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 29/29 | 2211 | chr2 | TogoVar | ||||||
SCN1A_chr2_165980813_166133020 | 165989063 | TGTGTGC | T | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01123.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0014a0001c0001t0026a0001c0001t0036others(12): Show | a0001c0001t0014g0025 a0001c0001t0014g0027 a0001c0001t0014g0029 others(26): Show |
29 | 356 | 0.0815 | -6 | c.*21 others(17): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 29/29 | 2176 | chr2 | TogoVar | ||||||
SCN1A_chr2_165980813_166133020 | 166099460 | GATGCCC | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(19): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(70): Show |
73 | 356 | 0.2051 | -6 | c.-14 others(27): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166107570 | CTTAATA | C | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0021a0001c0004t0032others(1): Show | a0001c0001t0006g0159 a0001c0001t0021g0157 a0001c0001t0021g0158 others(3): Show |
6 | 356 | 0.0169 | -6 | c.-14 others(27): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1B_chr19_35025470_35045449 | 35028744 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0049 others(2): Show |
10 | 404 | 0.0248 | -6 | c.-20 others(17): Show |
SCN1B | ENSG00000105711.14 | transcript | ENST00000262631.11 | protein_coding | 1725 | chr19 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165240659 | CTGTGTG | C | intron_variant | MODIFIER | NA18940.hp1 NA18953.hp1 NA18962.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show |
6 | 358 | 0.0168 | -6 | c.-52 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165241135 | CGTGTGT | C | intron_variant | MODIFIER | HG00733.hp2 HG01358.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0302 a0001c0001t0002g0332 a0001c0001t0011g0338 |
3 | 358 | 0.0084 | -6 | c.-52 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165250489 | TCACACA | T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00738.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0152 a0001c0001t0001g0184 a0001c0001t0001g0256 others(48): Show |
51 | 358 | 0.1425 | -6 | c.-52 others(25): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165265471 | CTATATA | C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01081.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0221 a0001c0001t0001g0333 a0001c0001t0001g0340 others(23): Show |
26 | 358 | 0.0726 | -6 | c.-52 others(25): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165291035 | CTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01891.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0004others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0264 a0001c0001t0001g0342 others(14): Show |
17 | 358 | 0.0475 | -6 | c.-51 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165291414 | TCCTCCC | T | intron_variant | MODIFIER | HG02970.hp1 HG06807.hp2 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014 | a0001c0002t0001g0085 a0001c0002t0001g0235 a0001c0002t0014g0154 |
3 | 358 | 0.0084 | -6 | c.-51 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165303270 | GTTTTTT | G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(91): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(7): Show | a0001c0001t0001g0089 a0001c0001t0001g0239 a0001c0002t0001g0001 others(90): Show |
94 | 358 | 0.2626 | -6 | c.387 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165306504 | TTGTGTG | T | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01169.hp2 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 others(24): Show |
28 | 358 | 0.0782 | -6 | c.387 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165311171 | ATTATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00609.hp1 others(139): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0042 others(139): Show |
142 | 358 | 0.3967 | -6 | c.970 others(21): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165343822 | TTAAGTA | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00609.hp1 others(148): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(148): Show |
151 | 358 | 0.4218 | -6 | c.256 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165375368 | AGTGTGT | A | intron_variant | MODIFIER | HG02280.hp2 NA18940.hp1 NA18962.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(5): Show |
8 | 358 | 0.0224 | -6 | c.425 others(23): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2B_chr11_118157806_118181639 | 118162076 | GACAGAC | G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02056.hp1 HG02129.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0053others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0006g0036 others(2): Show |
6 | 450 | 0.0133 | -6 | c.*48 others(17): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 729 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118162080 | GACAGAC | G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG01167.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(12): Show | a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0065 others(31): Show |
56 | 450 | 0.1244 | -6 | c.*48 others(17): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 725 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118179408 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02895.hp1 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0003g0065 others(6): Show |
9 | 450 | 0.0200 | -6 | c.-29 others(17): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2770 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165111484 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(77): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0084 a0001c0001t0001g0107 others(75): Show |
80 | 314 | 0.2548 | -6 | c.384 others(25): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 21/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165142723 | GTGTTGT | G | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01891.hp1 others(11): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0002g0024 others(10): Show |
14 | 314 | 0.0446 | -6 | c.167 others(25): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146382 | ATGTGTG | A | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0168 a0001c0001t0002g0041 a0001c0001t0004g0019 |
3 | 314 | 0.0096 | -6 | c.167 others(23): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165188671 | CCAGGTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(221): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0063 others(216): Show |
224 | 314 | 0.7134 | -6 | c.-24 others(25): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123625936 | AAGAGAG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01070.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0237 a0001c0001t0001g0286 others(15): Show |
19 | 450 | 0.0422 | -6 | c.*78 others(17): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3251 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644800 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG02698.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0022g0181 |
3 | 450 | 0.0067 | -6 | c.219 others(21): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN4B_chr11_118128377_118157823 | 118151122 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(146): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0049 others(76): Show |
149 | 446 | 0.3341 | -6 | c.61+ others(21): Show |
SCN4B | ENSG00000177098.9 | transcript | ENST00000324727.9 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555055 | TTTTATA | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02083.hp2 others(2): Show |
a0001a0014 | a0001c0001a0001c0033a0014c0034 | a0001c0001t0002a0001c0033t0002a0014c0034t0002 | a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0310 others(2): Show |
5 | 340 | 0.0147 | -6 | c.454 others(23): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555057 | TTATATA | T | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp2 HG03942.hp1 others(7): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0003a0001c0022others(3): Show | a0001c0001t0003a0001c0003t0004a0001c0003t0022others(4): Show | a0001c0001t0003g0283 a0001c0003t0004g0111 a0001c0003t0004g0112 others(7): Show |
10 | 340 | 0.0294 | -6 | c.454 others(23): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38607461 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp1 others(58): Show |
a0001a0002a0024 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0004 a0001c0001t0002g0313 a0001c0001t0003g0166 others(57): Show |
61 | 340 | 0.1794 | -6 | c.999 others(21): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166413981 | GTATATA | G | intron_variant | MODIFIER | HG01255.hp2 HG02922.hp2 HG02965.hp2 others(1): Show |
a0010 | a0010c0013 | a0010c0013t0001a0010c0013t0003a0010c0013t0010 | a0010c0013t0001g0021 a0010c0013t0003g0017 a0010c0013t0010g0018 others(1): Show |
4 | 394 | 0.0102 | -6 | c.341 others(23): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414150 | AATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02083.hp2 others(21): Show |
a0004a0011 | a0004c0004a0011c0015 | a0004c0004t0005a0004c0004t0018a0011c0015t0005others(1): Show | a0004c0004t0005g0014 a0004c0004t0005g0273 a0004c0004t0005g0275 others(20): Show |
24 | 394 | 0.0609 | -6 | c.341 others(25): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166456803 | AATATAT | A | intron_variant | MODIFIER | HG00733.hp2 HG01361.hp2 HG01433.hp1 others(10): Show |
a0001a0008 | a0001c0001a0001c0012a0008c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(5): Show | a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0004g0053 others(9): Show |
13 | 394 | 0.0330 | -6 | c.129 others(21): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 11/25 | chr2 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51618458 | AACACAC | A | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00735.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0024 a0001c0001t0002g0099 a0001c0001t0003g0017 others(24): Show |
27 | 202 | 0.1337 | -6 | c.-55 others(25): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51629582 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 HG01169.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(3): Show | a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 others(16): Show |
19 | 202 | 0.0941 | -6 | c.-54 others(25): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51747083 | GTGTGTA | G | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0003t0015 | a0001c0001t0003g0154 a0001c0002t0001g0012 a0001c0002t0001g0014 others(8): Show |
11 | 202 | 0.0545 | -6 | c.213 others(25): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166232735 | GTATATA | G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03516.hp2 others(2): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0015a0001c0003t0015a0001c0011t0009others(1): Show | a0001c0001t0015g0149 a0001c0003t0015g0063 a0001c0011t0009g0027 others(2): Show |
5 | 296 | 0.0169 | -6 | c.392 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 21/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166232748 | TATATAG | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(75): Show |
a0001a0004a0007others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(25): Show | a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0062 others(75): Show |
78 | 296 | 0.2635 | -6 | c.392 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 21/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166232750 | TATAGAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(131): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0030others(54): Show | a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0044 others(130): Show |
134 | 296 | 0.4527 | -6 | c.392 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 21/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166232752 | TAGAGAG | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01167.hp2 others(19): Show |
a0001a0003a0019others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(10): Show | a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0068 others(19): Show |
22 | 296 | 0.0743 | -6 | c.392 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 21/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166254850 | GTAAATA | G | 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 | -6 | c.335 others(25): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 17/26 | chr2 | TogoVar |