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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAF8_chr6_154728416_154839221 | 154790489 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG01975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0130 a0001c0001t0001g0252 a0001c0001t0004g0192 others(3): Show |
6 | 18 | 0.3333 | -9 | c.322 others(26): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154831703 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01496.hp2 HG01884.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0002a0001c0002t0002a0003c0003t0002 | a0001c0001t0002g0024 a0001c0001t0002g0038 a0001c0001t0002g0076 others(5): Show |
8 | 31 | 0.2581 | -9 | c.236 others(26): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004764 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 NA18957.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0010a0001c0003t0004others(3): Show | a0001c0001t0003g0031 a0001c0001t0010g0214 a0001c0003t0004g0116 others(5): Show |
8 | 302 | 0.0265 | -9 | c.862 others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004770 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01952.hp2 HG01981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0003t0004others(2): Show | a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0006g0223 others(3): Show |
6 | 293 | 0.0205 | -9 | c.862 others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125122588 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 others(72): Show |
75 | 175 | 0.4286 | -9 | c.98+ others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78391099 | ACCTTTCC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0002g0068 others(103): Show |
107 | 332 | 0.3223 | -9 | c.135 others(26): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460799 | TCCTTCCT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03471.hp2 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0166 a0002c0003t0007g0168 a0002c0003t0007g0174 |
3 | 332 | 0.0090 | -9 | c.852 others(26): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 75001869 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01258.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0024 a0001c0001t0005g0042 a0001c0001t0005g0245 others(8): Show |
14 | 153 | 0.0915 | -9 | c.-49 others(26): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76488714 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02809.hp2 others(3): Show |
a0001a0002a0008 | a0001c0018a0002c0003a0008c0021 | a0001c0018t0001a0002c0003t0002a0008c0021t0001 | a0001c0018t0001g0173 a0002c0003t0002g0191 a0002c0003t0002g0192 others(3): Show |
6 | 13 | 0.4615 | -9 | c.295 others(30): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652272 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(3): Show |
6 | 301 | 0.0199 | -9 | c.264 others(30): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76680411 | GATAATAA others(2): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp2 HG03098.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0057 a0001c0001t0001g0215 a0001c0001t0001g0216 others(8): Show |
11 | 57 | 0.1930 | -9 | c.250 others(30): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47416615 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(4): Show | a0001c0001t0001g0093 a0001c0001t0001g0105 a0002c0002t0001g0050 others(74): Show |
77 | 95 | 0.8105 | -9 | c.305 others(26): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865787 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01167.hp2 others(6): Show |
a0001a0002a0008 | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0001a0001c0007t0023a0001c0008t0027others(5): Show | a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0007t0023g0260 others(6): Show |
9 | 197 | 0.0457 | -9 | c.*61 others(20): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4095 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918505 | AGAGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(306): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(134): Show | a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 others(305): Show |
309 | 312 | 0.9904 | -9 | c.916 others(26): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124803689 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00673.hp2 others(7): Show |
a0001a0002 | a0001c0004a0002c0006 | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(2): Show | a0001c0004t0001g0099 a0001c0004t0001g0154 a0001c0004t0001g0293 others(7): Show |
10 | 171 | 0.0585 | -9 | c.101 others(28): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 7/12 | chr12 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82658630 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00642.hp2 others(97): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 others(97): Show |
100 | 104 | 0.9615 | -9 | c.570 others(28): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82700787 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01192.hp2 HG03098.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0105 a0001c0001t0001g0121 others(10): Show |
13 | 14 | 0.9286 | -9 | c.363 others(26): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82720441 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0184 a0001c0001t0003g0098 a0001c0001t0009g0198 others(3): Show |
6 | 55 | 0.1091 | -9 | c.233 others(28): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82746951 | AGGGCGTC others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp1 others(114): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 others(114): Show |
117 | 208 | 0.5625 | -9 | c.233 others(28): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77612456 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01516.hp1 others(9): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0002 a0001c0002t0002g0064 a0001c0002t0002g0066 others(8): Show |
12 | 32 | 0.3750 | -9 | c.133 others(26): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53236839 | TATTTATT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01168.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0081 a0001c0001t0001g0085 others(20): Show |
23 | 162 | 0.1420 | -9 | c.131 others(30): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51709686 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01123.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(3): Show |
6 | 396 | 0.0152 | -9 | c.120 others(28): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51709688 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0005c0008t0001 | a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0001t0003g0051 others(4): Show |
8 | 397 | 0.0202 | -9 | c.120 others(28): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
SCG5_chr15_32636710_32702092 | 32662466 | CTTCCTAT others(2): Show |
C | intron_variant | MODIFIER | NA18990.hp2 NA18992.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0347 a0001c0001t0001g0348 |
3 | 414 | 0.0072 | -9 | c.227 others(28): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB1D4_chr11_62291281_62304075 | 62298038 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 3 | 428 | 0.0070 | -9 | c.56- others(22): Show |
SCGB1D4 | ENSG00000197745.3 | transcript | ENST00000358585.3 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34612022 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034a0001c0001t0040others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0034g0057 others(5): Show |
8 | 26 | 0.3077 | -9 | c.-20 others(32): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25658003 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02155.hp1 HG02155.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(5): Show |
9 | 138 | 0.0652 | -9 | c.154 others(26): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159776332 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01978.hp2 HG02027.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(6): Show |
9 | 29 | 0.3103 | -9 | c.759 others(28): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12590053 | TGGATGCC others(2): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp2 NA18959.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0115others(1): Show | a0001c0001t0001g0101 a0001c0001t0024g0099 a0001c0001t0115g0100 others(1): Show |
4 | 370 | 0.0108 | -9 | c.516 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107717143 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0013 | a0001c0001t0001g0115 a0001c0001t0008g0177 a0001c0001t0013g0011 others(6): Show |
9 | 50 | 0.1800 | -9 | c.973 others(26): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38772718 | CAACAACA others(2): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0098 a0001c0003t0002g0101 a0001c0003t0002g0102 |
3 | 358 | 0.0084 | -9 | c.471 others(26): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166072837 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01074.hp1 others(37): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0006a0001c0001t0021a0001c0001t0035others(9): Show | a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 others(37): Show |
40 | 247 | 0.1619 | -9 | c.264 others(24): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166102506 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00642.hp2 others(78): Show |
a0001a0002a0011 | a0001c0001a0001c0008a0001c0021others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0172 a0001c0001t0002g0193 a0001c0001t0002g0194 others(76): Show |
81 | 354 | 0.2288 | -9 | c.-14 others(30): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166120596 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(15): Show | a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0155 others(47): Show |
50 | 92 | 0.5435 | -9 | c.-14 others(28): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1B_chr19_35025470_35045449 | 35028744 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0055 others(3): Show |
8 | 94 | 0.0851 | -9 | c.-20 others(20): Show |
SCN1B | ENSG00000105711.14 | transcript | ENST00000262631.11 | protein_coding | 1725 | chr19 | TogoVar | |||||||
SCN1B_chr19_35025470_35045449 | 35029542 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0096 others(1): Show |
7 | 27 | 0.2593 | -9 | c.-12 others(20): Show |
SCN1B | ENSG00000105711.14 | transcript | ENST00000262631.11 | protein_coding | 927 | chr19 | TogoVar | |||||||
SCN1B_chr19_35025470_35045449 | 35036732 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0004 others(17): Show |
62 | 319 | 0.1944 | -9 | c.449 others(26): Show |
SCN1B | ENSG00000105711.14 | transcript | ENST00000262631.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165350460 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00673.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0038 a0001c0001t0002g0145 a0001c0001t0002g0146 others(5): Show |
8 | 343 | 0.0233 | -9 | c.292 others(28): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN3A_chr2_165082526_165209050 | 165142723 | GTGTTGTT others(2): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03453.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0195 |
3 | 79 | 0.0380 | -9 | c.167 others(28): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555086 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02015.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 a0001c0001t0002g0250 a0001c0001t0002g0316 |
3 | 336 | 0.0089 | -9 | c.454 others(26): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51639879 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0005a0001c0002t0001a0001c0015t0005 | a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 others(3): Show |
6 | 23 | 0.2609 | -9 | c.-54 others(28): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51640212 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(8): Show | a0001c0001t0003g0021 a0001c0001t0003g0038 a0001c0001t0003g0039 others(36): Show |
39 | 44 | 0.8864 | -9 | c.-54 others(28): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51721107 | AATATTTA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG02486.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0006g0095 a0001c0002t0001g0165 a0001c0002t0001g0173 others(4): Show |
7 | 189 | 0.0370 | -9 | c.163 others(26): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 11/26 | chr12 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166207428 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01167.hp1 others(22): Show |
a0003a0005a0010others(1): Show | a0003c0013a0003c0014a0003c0028others(10): Show | a0003c0013t0003a0003c0014t0003a0003c0028t0003others(11): Show | a0003c0013t0003g0158 a0003c0013t0003g0159 a0003c0013t0003g0160 others(22): Show |
25 | 69 | 0.3623 | -9 | c.439 others(28): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340533 | TTTCTTTC others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp1 HG01256.hp2 others(13): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0156 a0001c0002t0001g0120 a0001c0002t0001g0121 others(13): Show |
16 | 292 | 0.0548 | -9 | c.-50 others(28): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340607 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 NA18963.hp2 |
a0001a0007a0023 | a0001c0003a0007c0019a0023c0037 | a0001c0003t0010a0007c0019t0004a0023c0037t0001 | a0001c0003t0010g0008 a0007c0019t0004g0200 a0023c0037t0001g0239 |
3 | 263 | 0.0114 | -9 | c.-50 others(28): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23305525 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00741.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0158 a0001c0001t0001g0200 others(8): Show |
11 | 304 | 0.0362 | -9 | c.-9+ others(24): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23310290 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(48): Show |
51 | 231 | 0.2208 | -9 | c.-9+ others(24): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23193069 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(64): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(7): Show | a0001c0002t0001g0063 a0001c0002t0003g0001 a0001c0002t0003g0003 others(56): Show |
67 | 155 | 0.4323 | -9 | c.809 others(24): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCOC_chr4_140368646_140390728 | 140369857 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(6): Show |
14 | 157 | 0.0892 | -9 | c.-39 others(20): Show |
SCOC | ENSG00000153130.18 | transcript | ENST00000608372.6 | protein_coding | 3788 | chr4 | TogoVar |