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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTLC2_chr14_77500997_77621637 | 77597679 | GA | G | intron_variant | MODIFIER | HG01358.hp2 HG02559.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0046a0001c0001t0047a0001c0001t0048others(2): Show | a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 others(2): Show |
5 | 246 | 0.0203 | -1 | c.133 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77598920 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(97): Show |
101 | 246 | 0.4106 | -1 | c.133 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77601543 | TG | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0120 others(20): Show |
23 | 246 | 0.0935 | -1 | c.133 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77602548 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 others(52): Show |
55 | 246 | 0.2236 | -1 | c.133 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77604117 | CT | C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01071.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(43): Show |
47 | 246 | 0.1911 | -1 | c.133 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77604844 | GC | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0070 others(31): Show |
34 | 246 | 0.1382 | -1 | c.133 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77604866 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(104): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0033 a0001c0001t0001g0108 a0001c0001t0001g0116 others(104): Show |
107 | 246 | 0.4350 | -1 | c.133 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77607296 | TG | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0229 others(12): Show |
15 | 246 | 0.0610 | -1 | c.132 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77611458 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(80): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0120 others(80): Show |
83 | 246 | 0.3374 | -1 | c.132 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77611825 | CA | C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0003a0001c0011a0001c0012 | a0001c0003t0001a0001c0011t0004a0001c0012t0004 | a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 others(2): Show |
5 | 246 | 0.0203 | -1 | c.132 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77612943 | CT | C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0004 | a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 others(1): Show |
4 | 246 | 0.0163 | -1 | c.132 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77614871 | TG | T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0024 | a0001c0001t0001g0130 a0001c0001t0001g0216 a0001c0001t0001g0217 others(3): Show |
6 | 246 | 0.0244 | -1 | c.132 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77619763 | CA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0068 others(55): Show |
58 | 246 | 0.2358 | -1 | c.-31 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3127 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77620907 | CT | C | upstream_gene_variant | MODIFIER | HG01993.hp2 HG02145.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0060 a0001c0001t0003g0184 a0001c0001t0003g0185 others(7): Show |
10 | 246 | 0.0407 | -1 | c.-43 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4271 | chr14 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13010053 | TC | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0011 others(87): Show |
90 | 292 | 0.3082 | -1 | c.117 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13011735 | GT | G | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00738.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0038others(13): Show | a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 others(38): Show |
41 | 292 | 0.1404 | -1 | c.117 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13014789 | TA | T | intron_variant | MODIFIER | HG01168.hp2 HG02615.hp2 HG02897.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0010others(7): Show | a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0004g0288 others(8): Show |
11 | 292 | 0.0377 | -1 | c.117 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13031758 | CT | C | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0044others(1): Show | a0001c0001t0003g0072 a0001c0001t0014g0074 a0001c0001t0044g0073 others(1): Show |
4 | 292 | 0.0137 | -1 | c.118 others(10): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13034196 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(112): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0052 a0001c0001t0001g0149 a0001c0001t0001g0150 others(112): Show |
115 | 292 | 0.3938 | -1 | c.118 others(10): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13041272 | TA | T | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0019a0001c0005t0047 | a0001c0001t0001g0052 a0001c0001t0019g0053 a0001c0005t0047g0068 |
3 | 292 | 0.0103 | -1 | c.118 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13044095 | CT | C | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0004a0001c0005t0005others(1): Show | a0001c0005t0001g0080 a0001c0005t0004g0244 a0001c0005t0005g0081 others(1): Show |
4 | 292 | 0.0137 | -1 | c.118 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13044103 | TC | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01106.hp1 others(20): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0013a0001c0004t0001a0001c0004t0003others(9): Show | a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0004t0001g0169 others(20): Show |
23 | 292 | 0.0788 | -1 | c.118 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13044104 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(79): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(79): Show |
82 | 292 | 0.2808 | -1 | c.118 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13044130 | TG | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(28): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(16): Show | a0001c0001t0001g0110 a0001c0001t0003g0112 a0001c0001t0009g0111 others(28): Show |
31 | 292 | 0.1062 | -1 | c.118 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13048202 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(89): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0159 a0001c0001t0003g0192 a0001c0001t0004g0226 others(89): Show |
92 | 292 | 0.3151 | -1 | c.118 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13049614 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0095 others(287): Show |
290 | 292 | 0.9932 | -1 | c.303 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13056457 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(28): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0110 a0001c0001t0003g0112 a0001c0001t0007g0269 others(28): Show |
31 | 292 | 0.1062 | -1 | c.303 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13056741 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0110 a0001c0001t0001g0149 a0001c0001t0002g0031 others(46): Show |
49 | 292 | 0.1678 | -1 | c.303 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13058379 | CA | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 others(8): Show |
11 | 292 | 0.0377 | -1 | c.303 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13060450 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01106.hp2 others(30): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(16): Show | a0001c0001t0001g0052 a0001c0001t0001g0159 a0001c0001t0001g0210 others(30): Show |
33 | 292 | 0.1130 | -1 | c.303 others(10): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13065265 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(110): Show |
a0001a0004a0008 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(110): Show |
113 | 292 | 0.3870 | -1 | c.304 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13067032 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(113): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(113): Show |
116 | 292 | 0.3973 | -1 | c.304 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13067152 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(113): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(113): Show |
116 | 292 | 0.3973 | -1 | c.304 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13068750 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01123.hp2 others(21): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(14): Show | a0001c0001t0001g0159 a0001c0001t0004g0225 a0001c0001t0004g0226 others(21): Show |
24 | 292 | 0.0822 | -1 | c.304 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13070106 | CA | C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00741.hp1 others(79): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0052 a0001c0001t0001g0173 a0001c0001t0001g0181 others(79): Show |
82 | 292 | 0.2808 | -1 | c.304 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13073215 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(106): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 others(106): Show |
109 | 292 | 0.3733 | -1 | c.458 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13074463 | TG | T | frameshift_variant | HIGH | HG01168.hp2 | a0006 | a0006c0019 | a0006c0019t0035 | a0006c0019t0035g0056 | 1 | 292 | 0.0034 | -1 | c.575 others(4): Show |
p.Gly others(5): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 4/12 | 871/6191 | 575/1659 | 192/552 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
SPTLC3_chr20_13003972_13174103 | 13075134 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(21): Show | a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0003g0142 others(36): Show |
39 | 292 | 0.1336 | -1 | c.607 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13078743 | TC | T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0004g0219 others(13): Show |
16 | 292 | 0.0548 | -1 | c.607 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 4/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13089804 | AC | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(69): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0134 others(69): Show |
72 | 292 | 0.2466 | -1 | c.608 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 4/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13090896 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(151): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0095 others(151): Show |
154 | 292 | 0.5274 | -1 | c.608 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13091571 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(193): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0095 others(193): Show |
196 | 292 | 0.6712 | -1 | c.732 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13102287 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00673.hp1 others(144): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(62): Show | a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0143 others(144): Show |
147 | 292 | 0.5034 | -1 | c.827 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13107775 | CT | C | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01069.hp1 others(116): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0156 others(116): Show |
119 | 292 | 0.4075 | -1 | c.827 others(9): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13110086 | AT | A | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01884.hp2 others(16): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0003g0157 others(16): Show |
19 | 292 | 0.0651 | -1 | c.827 others(7): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13116917 | GC | G | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01069.hp1 others(79): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(37): Show | a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0210 others(79): Show |
82 | 292 | 0.2808 | -1 | c.933 others(8): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13120265 | CT | C | intron_variant | MODIFIER | HG01106.hp2 HG02280.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0011a0001c0003t0012a0001c0003t0058others(1): Show | a0001c0003t0011g0152 a0001c0003t0011g0153 a0001c0003t0011g0154 others(3): Show |
6 | 292 | 0.0206 | -1 | c.115 others(10): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 8/11 | chr20 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13125072 | CT | C | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG02055.hp2 others(18): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0015a0001c0001t0059a0001c0003t0011others(6): Show | a0001c0001t0015g0218 a0001c0001t0015g0224 a0001c0001t0015g0256 others(18): Show |
21 | 292 | 0.0719 | -1 | c.115 others(10): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13128871 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0052 a0001c0001t0001g0095 a0001c0001t0001g0124 others(109): Show |
112 | 292 | 0.3836 | -1 | c.127 others(10): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13132171 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(71): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0052 a0001c0001t0001g0158 a0001c0001t0002g0011 others(71): Show |
74 | 292 | 0.2534 | -1 | c.127 others(10): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |