| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SCAMP1_chr5_78355617_78485739 | 78460799 | TCCTTCCT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03471.hp2 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0162a0002c0003t0007g0165a0002c0003t0007g0171 | 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 | a0001c0001t0005g0024a0001c0001t0005g0042a0001c0001t0005g0245others(8): Show | 14 | 370 | 0.0378 | -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 |
a0001a0003a0013 | a0001c0018a0003c0003a0013c0021 | a0001c0018t0001a0003c0003t0002a0013c0021t0001 | a0001c0018t0001g0173a0003c0003t0002g0191a0003c0003t0002g0192others(3): Show | 6 | 312 | 0.0192 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(3): Show | 6 | 312 | 0.0192 | -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 |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0215a0001c0001t0001g0216others(8): Show | 11 | 312 | 0.0353 | -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(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(4): Show | a0001c0001t0001g0067a0001c0001t0001g0107a0002c0002t0001g0051others(75): Show | 78 | 304 | 0.2566 | -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 |
a0001a0002a0009 | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0001a0001c0007t0023a0001c0008t0027others(5): Show | a0001c0001t0001g0234a0001c0001t0001g0241a0001c0007t0023g0261others(6): Show | 9 | 314 | 0.0287 | -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(307): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(135): Show | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0147others(307): Show | 310 | 314 | 0.9873 | -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 | a0001c0004t0001g0099a0001c0004t0001g0154a0001c0004t0001g0281others(7): Show | 10 | 356 | 0.0281 | -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 | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0019others(97): Show | 100 | 210 | 0.4762 | -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 | a0001c0001t0001g0022a0001c0001t0001g0105a0001c0001t0001g0121others(10): Show | 13 | 210 | 0.0619 | -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 | a0001c0001t0001g0184a0001c0001t0003g0098a0001c0001t0009g0198others(3): Show | 6 | 210 | 0.0286 | -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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0028others(114): Show | 117 | 210 | 0.5571 | -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 | a0001c0002t0002g0002a0001c0002t0002g0063a0001c0002t0002g0065others(8): Show | 12 | 356 | 0.0337 | -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 | a0001c0001t0001g0022a0001c0001t0001g0081a0001c0001t0001g0105others(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 | a0001c0001t0003g0033a0001c0001t0003g0034a0001c0001t0003g0035others(3): Show | 6 | 402 | 0.0149 | -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 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0003a0004c0008t0001 | a0001c0001t0003g0002a0001c0001t0003g0023a0001c0001t0003g0027others(4): Show | 8 | 402 | 0.0199 | -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 | a0001c0001t0001g0102a0001c0001t0001g0354a0001c0001t0001g0355 | 3 | 415 | 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 | 430 | 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 | a0001c0001t0001g0050a0001c0001t0001g0075a0001c0001t0034g0053others(5): Show | 8 | 370 | 0.0216 | -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 | a0001c0001t0001g0019a0001c0001t0001g0152a0001c0001t0001g0153others(5): Show | 9 | 368 | 0.0245 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(6): Show | 9 | 100 | 0.0900 | -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 | a0001c0001t0132a0001c0001t0161a0001c0001t0185others(1): Show | a0001c0001t0132g0166a0001c0001t0161g0167a0001c0001t0185g0145others(1): Show | 4 | 372 | 0.0108 | -9 | c.516 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SCML1_chrX_17732493_17759985 | 17737416 | AGTCCCGC others(2): Show |
A | upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0026 | 1 | 281 | 0.0036 | -9 | c.-38 others(18): Show |
SCML1 | ENSG00000047634.15 | transcript | ENST00000380041.8 | protein_coding | 76 | chrX | TogoVar | ||||||
| SCML1_chrX_17732493_17759985 | 17737422 | GCCCCCCC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01071.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(2): Show | 8 | 281 | 0.0285 | -9 | c.-37 others(18): Show |
SCML1 | ENSG00000047634.15 | transcript | ENST00000380041.8 | protein_coding | 70 | chrX | TogoVar | ||||||
| SCML2_chrX_18234313_18359688 | 18251309 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 247 | 0.0041 | -9 | c.145 others(28): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 11/14 | chrX | 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 | a0001c0001t0001g0114a0001c0001t0008g0176a0001c0001t0013g0011others(6): Show | 9 | 250 | 0.0360 | -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 | a0001c0003t0002g0096a0001c0003t0002g0097a0001c0003t0002g0102 | 3 | 372 | 0.0081 | -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 |
a0001a0002a0011 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0006a0001c0001t0021a0001c0001t0031others(14): Show | a0001c0001t0006g0159a0001c0001t0006g0160a0001c0001t0006g0286others(37): Show | 40 | 356 | 0.1124 | -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 |
a0001a0002a0009 | a0001c0001a0001c0008a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0171a0001c0001t0001g0192a0001c0001t0001g0193others(77): Show | 81 | 356 | 0.2275 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(22): Show | a0001c0001t0001g0084a0001c0001t0001g0140a0001c0001t0001g0141others(47): Show | 50 | 356 | 0.1405 | -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 | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0055others(3): Show | 8 | 404 | 0.0198 | -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 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(1): Show | 7 | 404 | 0.0173 | -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 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0004others(17): Show | 62 | 404 | 0.1535 | -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 | a0001c0001t0002g0038a0001c0001t0002g0145a0001c0001t0002g0146others(5): Show | 8 | 358 | 0.0224 | -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 | a0001c0001t0001g0067a0001c0001t0001g0081a0001c0001t0001g0194 | 3 | 314 | 0.0096 | -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 | a0001c0001t0002g0199a0001c0001t0002g0255a0001c0001t0002g0320 | 3 | 340 | 0.0088 | -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 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0005a0001c0002t0001a0001c0016t0005 | a0001c0001t0005g0125a0001c0001t0005g0126a0001c0001t0005g0127others(3): Show | 6 | 202 | 0.0297 | -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 | a0001c0001t0003g0021a0001c0001t0003g0038a0001c0001t0003g0039others(36): Show | 39 | 202 | 0.1931 | -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 | a0001c0001t0006g0095a0001c0002t0001g0165a0001c0002t0001g0173others(4): Show | 7 | 202 | 0.0347 | -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 |
a0003a0005a0015others(1): Show | a0003c0013a0003c0014a0003c0028others(10): Show | a0003c0013t0003a0003c0014t0003a0003c0028t0003others(11): Show | a0003c0013t0003g0159a0003c0013t0003g0160a0003c0013t0003g0161others(22): Show | 25 | 296 | 0.0845 | -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(14): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0156a0001c0002t0001g0119a0001c0002t0001g0120others(14): Show | 17 | 296 | 0.0574 | -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 |
a0001a0006a0019 | a0001c0003a0006c0019a0019c0037 | a0001c0003t0010a0006c0019t0004a0019c0037t0001 | a0001c0003t0010g0008a0006c0019t0004g0201a0019c0037t0001g0239 | 3 | 296 | 0.0101 | -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 | a0001c0001t0001g0010a0001c0001t0001g0135a0001c0001t0001g0136others(8): Show | 11 | 306 | 0.0360 | -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 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(48): Show | 51 | 306 | 0.1667 | -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 | a0001c0002t0001g0056a0001c0002t0003g0007a0001c0002t0003g0257others(63): Show | 67 | 320 | 0.2094 | -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 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(7): Show | 14 | 418 | 0.0335 | -9 | c.-39 others(20): Show |
SCOC | ENSG00000153130.18 | transcript | ENST00000608372.6 | protein_coding | 3788 | chr4 | TogoVar | ||||||
| SCOC_chr4_140368646_140390728 | 140375536 | TGATATTG others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0011others(10): Show | 64 | 418 | 0.1531 | -9 | c.-51 others(26): Show |
SCOC | ENSG00000153130.18 | transcript | ENST00000608372.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SCTR_chr2_119434843_119529483 | 119471324 | ATGATAGA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 HG06807.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0110a0001c0001t0001g0165a0001c0001t0001g0238others(4): Show | 7 | 290 | 0.0241 | -9 | c.405 others(26): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
| SCUBE2_chr11_9014476_9096599 | 9072200 | GGTTTGTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0011 | a0002c0002t0002a0003c0003t0002a0003c0011t0001 | a0002c0002t0002g0055a0003c0003t0002g0126a0003c0003t0002g0131others(4): Show | 7 | 358 | 0.0196 | -9 | c.517 others(26): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 4/22 | chr11 | TogoVar |