view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN2A_chr2_165234414_165397304 | 165375368 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(49): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0016a0001c0006t0002others(2): Show | a0001c0001t0002g0027a0001c0001t0002g0050a0001c0001t0002g0057others(49): Show | 52 | 358 | 0.1453 | -10 | c.425 others(27): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165392742 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18940.hp1 NA18962.hp1 NA18991.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(2): Show | 5 | 358 | 0.0140 | -10 | c.*29 others(21): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 439 | chr2 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118162076 | GACAGACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02080.hp2 HG03654.hp2 HG04115.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0025a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0167others(2): Show | 8 | 450 | 0.0178 | -10 | c.*48 others(21): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 729 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118162078 | CAGACAGA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 HG03453.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0058 | a0001c0001t0020g0059a0001c0001t0020g0105a0001c0001t0020g0209others(1): Show | 4 | 450 | 0.0089 | -10 | c.*47 others(21): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 727 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118174091 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 450 | 0.0022 | -10 | c.70+ others(25): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118179408 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0232 | 1 | 450 | 0.0022 | -10 | c.-29 others(21): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2770 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165111484 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG01192.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0001others(10): Show | a0001c0001t0001g0005a0001c0001t0018g0158a0001c0002t0001g0137others(17): Show | 21 | 314 | 0.0669 | -10 | c.384 others(29): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 21/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146378 | ATATATGT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01891.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0073a0001c0004t0002g0025 | 2 | 314 | 0.0064 | -10 | c.167 others(27): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146380 | ATATGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0009 | a0001c0004t0004g0007a0001c0004t0009g0008 | 2 | 314 | 0.0064 | -10 | c.167 others(27): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165156512 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG04184.hp2 NA19089.hp1 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0005c0013t0002 | a0001c0001t0001g0204a0005c0013t0002g0031 | 2 | 314 | 0.0064 | -10 | c.103 others(27): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 9/27 | chr2 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123625936 | AAGAGAGA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp2 NA20752.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0013a0001c0001t0001g0343a0001c0001t0008g0088 | 3 | 450 | 0.0067 | -10 | c.*78 others(21): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3251 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644792 | AGAGAGAG others(3): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 450 | 0.0022 | -10 | c.219 others(25): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644796 | AGAGAATA others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0034 | a0001c0001t0001g0242a0001c0001t0002g0241a0001c0001t0034g0060 | 3 | 450 | 0.0067 | -10 | c.219 others(25): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644800 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01975.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0066 | a0001c0001t0001g0130a0001c0001t0003g0080a0001c0001t0066g0247 | 3 | 450 | 0.0067 | -10 | c.219 others(25): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN4A_chr17_63933554_63977918 | 63942258 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp2 others(93): Show |
a0001a0005a0006others(4): Show | a0001c0002a0001c0018a0001c0024others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0012others(16): Show | a0001c0002t0001g0001a0001c0002t0001g0014a0001c0002t0001g0015others(68): Show | 96 | 356 | 0.2697 | -10 | c.428 others(27): Show |
SCN4A | ENSG00000007314.12 | transcript | ENST00000435607.3 | protein_coding | 23/23 | chr17 | TogoVar | |||||||
SCN4B_chr11_118128377_118157823 | 118151122 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG01975.hp2 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0016 | a0001c0002t0012g0090a0001c0002t0012g0091a0001c0002t0016g0092 | 3 | 446 | 0.0067 | -10 | c.61+ others(25): Show |
SCN4B | ENSG00000177098.9 | transcript | ENST00000324727.9 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555057 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | NA18954.hp2 NA19070.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0001c0020a0002c0015 | a0001c0001t0004a0001c0020t0001a0002c0015t0014 | a0001c0001t0004g0314a0001c0020t0001g0194a0002c0015t0014g0023 | 3 | 340 | 0.0088 | -10 | c.454 others(27): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555097 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0009 | a0002c0009t0007 | a0002c0009t0007g0059 | 1 | 340 | 0.0029 | -10 | c.454 others(27): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38607461 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG03139.hp2 HG03471.hp1 others(1): Show |
a0001a0003a0009others(1): Show | a0001c0012a0003c0075a0009c0042others(1): Show | a0001c0012t0001a0003c0075t0001a0009c0042t0002others(1): Show | a0001c0012t0001g0040a0003c0075t0001g0054a0009c0042t0002g0056others(1): Show | 4 | 340 | 0.0118 | -10 | c.999 others(25): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166413981 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0048 | 1 | 394 | 0.0025 | -10 | c.341 others(27): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414068 | TATATATG others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00609.hp2 others(114): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0010a0001c0028others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0015a0001c0001t0001g0056a0001c0001t0001g0082others(112): Show | 117 | 394 | 0.2970 | -10 | c.341 others(27): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414267 | CACACATA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0012 | a0001c0012t0001a0001c0012t0011 | a0001c0012t0001g0357a0001c0012t0011g0092a0001c0012t0011g0316others(1): Show | 4 | 394 | 0.0102 | -10 | c.341 others(29): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414283 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | NA18973.hp2 NA19007.hp2 |
a0004a0011 | a0004c0004a0011c0015 | a0004c0004t0005a0011c0015t0005 | a0004c0004t0005g0286a0011c0015t0005g0277 | 2 | 394 | 0.0051 | -10 | c.341 others(29): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166456803 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01175.hp2 others(43): Show |
a0001a0009a0010others(1): Show | a0001c0001a0001c0012a0009c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0044a0001c0001t0001g0056a0001c0001t0001g0082others(43): Show | 46 | 394 | 0.1168 | -10 | c.129 others(25): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 11/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166456821 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG03516.hp2 NA18956.hp2 NA18960.hp2 |
a0005a0015 | a0005c0005a0015c0018 | a0005c0005t0031a0015c0018t0001 | a0005c0005t0031g0041a0015c0018t0001g0095a0015c0018t0001g0108 | 3 | 394 | 0.0076 | -10 | c.129 others(25): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 11/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166456825 | TATATAGA others(3): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0005 | a0005c0005t0030 | a0005c0005t0030g0040 | 1 | 394 | 0.0025 | -10 | c.129 others(25): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 11/25 | chr2 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51606825 | GTATTTTA others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG01168.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(6): Show | a0001c0001t0003g0034a0001c0001t0003g0037a0001c0001t0003g0038others(31): Show | 34 | 202 | 0.1683 | -10 | c.-55 others(29): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51618458 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0004g0101a0001c0001t0006g0095a0001c0002t0001g0119others(11): Show | 14 | 202 | 0.0693 | -10 | c.-55 others(29): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51639879 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0006 | 1 | 202 | 0.0050 | -10 | c.-54 others(29): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51640212 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(7): Show | a0001c0001t0003g0034a0001c0001t0003g0037a0001c0001t0003g0040others(17): Show | 20 | 202 | 0.0990 | -10 | c.-54 others(29): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51677056 | GTTTTATT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01071.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0099a0001c0001t0003g0034a0001c0001t0003g0037others(33): Show | 36 | 202 | 0.1782 | -10 | c.277 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51721098 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0162a0001c0001t0006g0002a0001c0001t0006g0003others(1): Show | 4 | 202 | 0.0198 | -10 | c.163 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 11/26 | chr12 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51747081 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0184 | 1 | 202 | 0.0050 | -10 | c.213 others(29): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51757790 | AAACAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 202 | 0.0050 | -10 | c.237 others(29): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51781645 | TGCACGCG others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069a0001c0001t0004g0070a0001c0001t0004g0071others(1): Show | 4 | 202 | 0.0198 | -10 | c.394 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166191646 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp2 | a0006 | a0006c0019 | a0006c0019t0004 | a0006c0019t0004g0252 | 1 | 296 | 0.0034 | -10 | c.*70 others(21): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3538 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191676 | TATATACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0105 | 1 | 296 | 0.0034 | -10 | c.*69 others(21): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3508 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191678 | TATACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp2 NA19240.hp2 |
a0014 | a0014c0035a0014c0045 | a0014c0035t0005a0014c0045t0005 | a0014c0035t0005g0292a0014c0045t0005g0197 | 2 | 296 | 0.0068 | -10 | c.*69 others(21): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3506 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191691 | ATATATAT others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18971.hp2 NA18972.hp1 NA19009.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0064a0001c0003t0002g0057a0001c0003t0002g0081 | 3 | 296 | 0.0101 | -10 | c.*69 others(21): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3493 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191710 | TATATATA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp2 NA19240.hp2 |
a0014 | a0014c0035a0014c0045 | a0014c0035t0005a0014c0045t0005 | a0014c0035t0005g0292a0014c0045t0005g0197 | 2 | 296 | 0.0068 | -10 | c.*69 others(21): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3474 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191718 | CACACATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp2 HG03239.hp2 others(5): Show |
a0001a0002a0024 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0005a0001c0006t0005a0001c0007t0005others(4): Show | a0001c0001t0005g0037a0001c0006t0005g0142a0001c0007t0005g0073others(5): Show | 8 | 296 | 0.0270 | -10 | c.*69 others(21): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3466 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191734 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG02809.hp1 others(4): Show |
a0001a0004a0012 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0006a0001c0003t0006a0001c0011t0006others(2): Show | a0001c0002t0006g0269a0001c0003t0006g0078a0001c0003t0006g0274others(4): Show | 7 | 296 | 0.0237 | -10 | c.*69 others(21): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3450 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166199975 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0010 | a0010c0041 | a0010c0041t0011 | a0010c0041t0011g0177 | 1 | 296 | 0.0034 | -10 | c.477 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 26/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166222935 | AAAAAAAC others(3): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03225.hp2 NA20129.hp1 |
a0001 | a0001c0005a0001c0007a0001c0018 | a0001c0005t0012a0001c0007t0001a0001c0018t0033 | a0001c0005t0012g0022a0001c0007t0001g0060a0001c0018t0033g0291 | 3 | 296 | 0.0101 | -10 | c.439 others(29): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166288093 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01192.hp1 others(26): Show |
a0001a0002a0005others(7): Show | a0001c0007a0001c0011a0001c0018others(13): Show | a0001c0007t0001a0001c0007t0005a0001c0007t0024others(19): Show | a0001c0007t0001g0060a0001c0007t0001g0266a0001c0007t0005g0259others(26): Show | 29 | 296 | 0.0980 | -10 | c.131 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 10/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166297196 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp2 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0042a0001c0001t0001g0066a0001c0001t0001g0076others(54): Show | 57 | 296 | 0.1926 | -10 | c.902 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340532 | TTTTCTTT others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02895.hp2 NA18959.hp2 others(1): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0008 | a0001c0002t0016a0001c0003t0010a0001c0003t0015others(1): Show | a0001c0002t0016g0199a0001c0003t0010g0006a0001c0003t0015g0063others(1): Show | 4 | 296 | 0.0135 | -10 | c.-50 others(29): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340594 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03225.hp2 |
a0001 | a0001c0005a0001c0011 | a0001c0005t0012a0001c0011t0018 | a0001c0005t0012g0022a0001c0011t0018g0021 | 2 | 296 | 0.0068 | -10 | c.-50 others(29): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNM1_chr1_151161144_151175296 | 151163878 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(3): Show | 20 | 378 | 0.0529 | -10 | c.-22 others(21): Show |
SCNM1 | ENSG00000163156.12 | transcript | ENST00000368905.9 | protein_coding | 2265 | chr1 | TogoVar | |||||||
SCNM1_chr1_151161144_151175296 | 151169240 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02683.hp1 HG03491.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 3 | 378 | 0.0079 | -10 | c.*16 others(19): Show |
SCNM1 | ENSG00000163156.12 | transcript | ENST00000368905.9 | protein_coding | 7/7 | 168 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |