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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBK1_chr16_28287525_28328849 | 28322917 | GCGCTCTC others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0149a0001c0002t0169 | a0001c0001t0149g0064a0001c0002t0169g0122 | 2 | 384 | 0.0052 | -28 | c.*19 others(39): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 1998 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SBNO1_chr12_123284109_123369847 | 123313201 | AAAATAAA others(21): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0085 | a0001c0002t0085g0209 | 1 | 260 | 0.0039 | -28 | c.322 others(45): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 24/31 | chr12 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1112764 | CCTCTGTG others(21): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0116 | 1 | 203 | 0.0049 | -28 | c.237 others(43): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 20/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1137345 | TGGGGGGA others(21): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 203 | 0.0049 | -28 | c.280 others(45): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SCAF11_chr12_45914131_45995574 | 45972864 | CGATATAT others(21): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01099.hp2 others(8): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0212a0001c0001t0003g0023a0001c0001t0003g0178others(7): Show | 11 | 344 | 0.0320 | -28 | c.-21 others(45): Show |
SCAF11 | ENSG00000139218.18 | transcript | ENST00000369367.8 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78469908 | AAAAACAA others(21): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0032 | a0001c0001t0003g0270a0001c0002t0032g0019 | 2 | 332 | 0.0060 | -28 | c.853 others(45): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SCAMP2_chr15_74838730_74878365 | 74865950 | CGAAGGAA others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(64): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0288a0001c0001t0002g0255a0001c0001t0002g0256others(58): Show | 67 | 386 | 0.1736 | -28 | c.57+ others(43): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74990994 | CTCTTTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 370 | 0.0027 | -28 | c.-47 others(39): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4568 | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76873331 | AAGGCAGG others(21): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02145.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0222a0003c0003t0002g0212 | 2 | 312 | 0.0064 | -28 | c.6+1 others(43): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/31 | chr15 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(21): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01975.hp2 others(7): Show |
a0001a0002a0012 | a0001c0005a0001c0008a0002c0010others(1): Show | a0001c0005t0004a0001c0005t0045a0001c0008t0004others(4): Show | a0001c0005t0004g0226a0001c0005t0004g0245a0001c0005t0045g0049others(7): Show | 10 | 314 | 0.0319 | -28 | c.*63 others(39): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | ||||||
SCARB1_chr12_124771856_124868864 | 124805106 | CACCAAGA others(21): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(124): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0040a0001c0001t0001g0072a0001c0001t0001g0111others(124): Show | 127 | 356 | 0.3567 | -28 | c.100 others(47): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 7/12 | chr12 | TogoVar | ||||||
SCCPDH_chr1_246719409_246773137 | 246722502 | AATATATA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG02486.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0044a0001c0001t0009g0158 | 3 | 410 | 0.0073 | -28 | c.-19 others(39): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | ||||||
SCD5_chr4_82624539_82803796 | 82712243 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 210 | 0.0048 | -28 | c.233 others(45): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SCD5_chr4_82624539_82803796 | 82712274 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 210 | 0.0048 | -28 | c.233 others(45): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703910 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA18946.hp1 NA18952.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0002c0002t0001a0004c0007t0001 | a0001c0001t0001g0216a0002c0002t0001g0222a0002c0002t0001g0223others(14): Show | 17 | 328 | 0.0518 | -28 | c.149 others(47): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCFD1_chr14_30617319_30740850 | 30703936 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01168.hp1 HG01169.hp1 others(33): Show |
a0001 | a0001c0001a0001c0006a0001c0014 | a0001c0001t0001a0001c0006t0001a0001c0014t0001 | a0001c0001t0001g0062a0001c0001t0001g0064a0001c0001t0001g0065others(33): Show | 36 | 328 | 0.1098 | -28 | c.149 others(47): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01168.hp2 HG01515.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0070a0001c0001t0002g0047a0001c0001t0002g0059others(22): Show | 25 | 162 | 0.1543 | -28 | c.196 others(47): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709675 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0055a0002c0003t0003g0059 | 2 | 402 | 0.0050 | -28 | c.120 others(47): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SCG5_chr15_32636710_32702092 | 32663032 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0236others(4): Show | 7 | 415 | 0.0169 | -28 | c.227 others(47): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SCGN_chr6_25647215_25706783 | 25658002 | CCTTTTTT others(21): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02922.hp1 HG03491.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0049a0001c0001t0002g0055a0001c0001t0004g0261others(2): Show | 5 | 368 | 0.0136 | -28 | c.154 others(45): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159694537 | CAAGAAAG others(21): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 100 | 0.0100 | -28 | c.64- others(45): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCHIP1_chr3_159268244_159902359 | 159704880 | CTTTCTTT others(21): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02027.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0042others(9): Show | 12 | 100 | 0.1200 | -28 | c.64- others(45): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCLY_chr2_238056001_238104413 | 238098577 | GGGACCGC others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG02083.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0095a0001c0001t0105others(1): Show | a0001c0001t0010g0008a0001c0001t0010g0047a0001c0001t0010g0056others(5): Show | 9 | 392 | 0.0230 | -28 | c.*23 others(37): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 12/12 | 236 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
SCLY_chr2_238056001_238104413 | 238098591 | AGGACCGC others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 NA18972.hp1 |
a0002 | a0002c0002 | a0002c0002t0074a0002c0002t0075 | a0002c0002t0074g0244a0002c0002t0075g0215 | 2 | 392 | 0.0051 | -28 | c.*25 others(37): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 12/12 | 250 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
SCLY_chr2_238056001_238104413 | 238098605 | AGGACCGC others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01074.hp1 others(16): Show |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0008a0002c0002t0014a0002c0002t0021others(3): Show | a0002c0002t0008g0002a0002c0002t0008g0211a0002c0002t0008g0212others(13): Show | 19 | 392 | 0.0485 | -28 | c.*27 others(37): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 12/12 | 278 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
SCML2_chrX_18234313_18359688 | 18264431 | TTGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0149a0004c0006t0001g0150 | 2 | 247 | 0.0081 | -28 | c.948 others(45): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107782622 | AAGTTTGC others(21): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA19079.hp1 NA19090.hp1 |
a0001 | a0001c0009a0001c0010 | a0001c0009t0001a0001c0010t0007 | a0001c0009t0001g0139a0001c0010t0007g0140a0001c0010t0007g0141 | 3 | 250 | 0.0120 | -28 | c.-59 others(47): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107782898 | GTCTGAGT others(21): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01167.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0070a0001c0001t0001g0091others(37): Show | 40 | 250 | 0.1600 | -28 | c.-59 others(47): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107783113 | CAGGTGCT others(21): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01175.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0091a0001c0001t0001g0097a0001c0001t0003g0092others(14): Show | 17 | 250 | 0.0680 | -28 | c.-59 others(47): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107783341 | TGCTGGTC others(21): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00735.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0082a0001c0001t0001g0091a0001c0001t0001g0097others(21): Show | 24 | 250 | 0.0960 | -28 | c.-59 others(47): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107783537 | TGCTGGTC others(21): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0030 | 1 | 250 | 0.0040 | -28 | c.-59 others(47): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107813397 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00741.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0064a0001c0001t0003g0006a0001c0001t0003g0012others(20): Show | 23 | 250 | 0.0920 | -28 | c.-60 others(47): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107824462 | CTGTGTGT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0156 | 1 | 250 | 0.0040 | -28 | c.-42 others(37): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 150 | chr6 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165291345 | GTCGTTCG others(21): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0050a0001c0001t0002g0057others(24): Show | 27 | 358 | 0.0754 | -28 | c.-51 others(45): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SCN5A_chr3_38543062_38654687 | 38555057 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 340 | 0.0029 | -28 | c.454 others(45): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38639625 | CCTCAGTT others(21): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0224 | 1 | 340 | 0.0029 | -28 | c.-52 others(45): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 1/27 | chr3 | TogoVar | ||||||
SCN7A_chr2_166398573_166499249 | 166400677 | CATGGATG others(21): Show |
C | downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0232 | 1 | 394 | 0.0025 | -28 | c.*48 others(39): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 2895 | chr2 | TogoVar | ||||||
SCN7A_chr2_166398573_166499249 | 166414245 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 394 | 0.0025 | -28 | c.341 others(47): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51747089 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0069a0001c0001t0004g0070a0001c0001t0004g0071others(5): Show | 8 | 202 | 0.0396 | -28 | c.213 others(47): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SCN9A_chr2_166190185_166380944 | 166191660 | TATATATA others(21): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0079 | 1 | 296 | 0.0034 | -28 | c.*69 others(39): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3524 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166191673 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02895.hp2 |
a0001a0004 | a0001c0002a0004c0024 | a0001c0002t0016a0004c0024t0016 | a0001c0002t0016g0199a0004c0024t0016g0020 | 2 | 296 | 0.0068 | -28 | c.*69 others(39): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3511 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166191694 | TATATATG others(21): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0289 | 1 | 296 | 0.0034 | -28 | c.*69 others(39): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3490 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166222930 | CAAAAAAA others(21): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 296 | 0.0034 | -28 | c.439 others(47): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166311329 | CCTATATA others(21): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA19240.hp1 |
a0001a0023 | a0001c0007a0023c0046 | a0001c0007t0012a0023c0046t0018 | a0001c0007t0012g0018a0023c0046t0018g0019 | 2 | 296 | 0.0068 | -28 | c.258 others(43): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 2/26 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166340540 | CCCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01255.hp2 HG02004.hp2 others(5): Show |
a0001a0002a0004 | a0001c0005a0001c0011a0002c0009others(2): Show | a0001c0005t0001a0001c0011t0009a0002c0009t0004others(3): Show | a0001c0005t0001g0026a0001c0011t0009g0027a0002c0009t0004g0282others(5): Show | 8 | 296 | 0.0270 | -28 | c.-50 others(47): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23343581 | GAGAAAGA others(21): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG04115.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0125a0001c0001t0001g0158 | 3 | 306 | 0.0098 | -28 | c.-8- others(43): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1284529 | GAGCGTGT others(21): Show |
G | intron_variant | MODIFIER | HG02165.hp1 NA18980.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0171a0003c0004t0003g0172 | 2 | 290 | 0.0069 | -28 | c.464 others(43): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1284557 | CAGCGTGT others(21): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0128 | 1 | 290 | 0.0035 | -28 | c.464 others(43): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1G_chr16_23177745_23221883 | 23204310 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0017 | a0001c0009t0017g0223 | 1 | 320 | 0.0031 | -28 | c.107 others(47): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SCRT2_chr20_656596_680802 | 674705 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0043others(50): Show | 80 | 458 | 0.1747 | -28 | c.133 others(43): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar |