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 | 77524439 | TA | T | intron_variant | MODIFIER | HG01168.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0082 a0001c0001t0002g0071 a0001c0001t0003g0221 others(14): Show |
17 | 246 | 0.0691 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77525135 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0097 a0001c0001t0001g0216 a0001c0001t0003g0015 others(34): Show |
37 | 246 | 0.1504 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77526303 | TC | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0002a0001c0001t0024a0001c0002t0005others(3): Show | a0001c0001t0002g0071 a0001c0001t0024g0220 a0001c0002t0005g0076 others(7): Show |
10 | 246 | 0.0407 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77527095 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0040 others(95): Show |
98 | 246 | 0.3984 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77527748 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(90): Show |
94 | 246 | 0.3821 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77529253 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0033 others(72): Show |
76 | 246 | 0.3089 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77529379 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0216 a0001c0001t0003g0015 a0001c0001t0003g0016 others(41): Show |
44 | 246 | 0.1789 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77529620 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(77): Show |
81 | 246 | 0.3293 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77530310 | CT | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0024a0001c0002t0005others(4): Show | a0001c0001t0002g0071 a0001c0001t0024g0220 a0001c0002t0005g0076 others(8): Show |
11 | 246 | 0.0447 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77530316 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(91): Show |
95 | 246 | 0.3862 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77533300 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00741.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0070 others(54): Show |
57 | 246 | 0.2317 | -1 | c.130 others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77534933 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0071 others(52): Show |
55 | 246 | 0.2236 | -1 | c.130 others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77539483 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00642.hp2 others(39): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0216 others(39): Show |
42 | 246 | 0.1707 | -1 | c.130 others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77540198 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(223): Show |
227 | 246 | 0.9228 | -1 | c.130 others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77540205 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0040 others(76): Show |
79 | 246 | 0.3211 | -1 | c.130 others(11): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77544038 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(8): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0216 a0001c0001t0004g0005 a0001c0001t0004g0006 others(8): Show |
11 | 246 | 0.0447 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77545269 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0036 others(45): Show |
49 | 246 | 0.1992 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77547174 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(190): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(189): Show |
193 | 246 | 0.7846 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77547874 | CT | C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0017a0001c0002t0019others(2): Show | a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0240 others(6): Show |
9 | 246 | 0.0366 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77550669 | AG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01069.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0041 a0001c0001t0001g0216 a0001c0001t0002g0071 others(45): Show |
48 | 246 | 0.1951 | -1 | c.130 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77551390 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(116): Show |
120 | 246 | 0.4878 | -1 | c.130 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77552805 | TA | T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01099.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0034 others(13): Show |
16 | 246 | 0.0650 | -1 | c.117 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77552965 | TA | T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0005a0001c0002t0010others(1): Show | a0001c0001t0024g0220 a0001c0002t0005g0076 a0001c0002t0005g0077 others(5): Show |
8 | 246 | 0.0325 | -1 | c.117 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77556343 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(87): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(87): Show |
90 | 246 | 0.3659 | -1 | c.956 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77556503 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(85): Show |
89 | 246 | 0.3618 | -1 | c.956 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 7/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77558051 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(120): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(119): Show |
123 | 246 | 0.5000 | -1 | c.851 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77561027 | GA | G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00642.hp1 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(86): Show |
89 | 246 | 0.3618 | -1 | c.850 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77561611 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01081.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0021a0001c0001t0039others(9): Show | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 others(21): Show |
24 | 246 | 0.0976 | -1 | c.850 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 6/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77564699 | TA | T | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0021others(3): Show | a0001c0001t0002g0071 a0001c0001t0008g0125 a0001c0001t0021g0003 others(3): Show |
6 | 246 | 0.0244 | -1 | c.757 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77565242 | CA | C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(61): Show |
64 | 246 | 0.2602 | -1 | c.757 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77568955 | AT | A | intron_variant | MODIFIER | HG01358.hp1 HG01975.hp1 HG01993.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0060 a0001c0002t0003g0032 a0001c0002t0003g0062 |
3 | 246 | 0.0122 | -1 | c.756 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77570222 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0030 others(133): Show |
137 | 246 | 0.5569 | -1 | c.756 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77570556 | AG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(110): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(109): Show |
113 | 246 | 0.4594 | -1 | c.632 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77570899 | CG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(129): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(128): Show |
132 | 246 | 0.5366 | -1 | c.632 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77572242 | TA | T | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01123.hp2 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0008a0001c0001t0035others(3): Show | a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 others(16): Show |
19 | 246 | 0.0772 | -1 | c.632 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77574838 | TA | T | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0032a0001c0002t0002others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0130 a0001c0001t0001g0206 others(9): Show |
12 | 246 | 0.0488 | -1 | c.631 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77576636 | GC | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0229 a0001c0001t0002g0071 a0001c0001t0003g0189 others(15): Show |
18 | 246 | 0.0732 | -1 | c.631 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77577919 | CA | C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(3): Show | a0001c0001t0002g0071 a0001c0001t0039g0101 a0001c0002t0002g0210 others(7): Show |
10 | 246 | 0.0407 | -1 | c.483 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578334 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0208 a0001c0001t0003g0189 others(4): Show |
7 | 246 | 0.0285 | -1 | c.482 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77579045 | CT | C | frameshift_variant | HIGH | NA18953.hp2 | a0004 | a0004c0008 | a0004c0008t0008 | a0004c0008t0008g0126 | 1 | 246 | 0.0041 | -1 | c.391 others(4): Show |
p.Arg others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/12 | 449/8034 | 391/1689 | 131/562 | chr14 | TogoVar | |||
SPTLC2_chr14_77500997_77621637 | 77579082 | CA | C | frameshift_variant | HIGH | NA18953.hp2 | a0004 | a0004c0008 | a0004c0008t0008 | a0004c0008t0008g0126 | 1 | 246 | 0.0041 | -1 | c.354 others(4): Show |
p.Phe others(5): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/12 | 412/8034 | 354/1689 | 118/562 | chr14 | TogoVar | |||
SPTLC2_chr14_77500997_77621637 | 77580554 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(62): Show |
65 | 246 | 0.2642 | -1 | c.328 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77581405 | CT | C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(50): Show |
53 | 246 | 0.2155 | -1 | c.328 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77586078 | CT | C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(72): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0022 others(72): Show |
75 | 246 | 0.3049 | -1 | c.328 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77588527 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(97): Show |
101 | 246 | 0.4106 | -1 | c.327 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77588702 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(90): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(89): Show |
93 | 246 | 0.3781 | -1 | c.327 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77588996 | CA | C | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp1 HG01109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(6): Show | a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 others(12): Show |
15 | 246 | 0.0610 | -1 | c.327 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77589482 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(204): Show |
208 | 246 | 0.8455 | -1 | c.327 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77589977 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(91): Show |
95 | 246 | 0.3862 | -1 | c.327 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77597480 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(101): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(100): Show |
104 | 246 | 0.4228 | -1 | c.133 others(8): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar |