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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPNS3_chr17_4428940_4493204 | 4437676 | T | TAAATA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(182): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(48): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 others(182): Show |
185 | 360 | 0.5139 | 5 | c.200 others(22): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4442303 | T | TGAGGC | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp2 others(40): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(16): Show | a0001c0001t0001g0111 a0001c0001t0001g0263 a0001c0001t0001g0332 others(40): Show |
43 | 360 | 0.1194 | 5 | c.265 others(22): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4451661 | A | ATTTGT | intron_variant | MODIFIER | HG02717.hp1 HG03540.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0003a0001c0034a0001c0046 | a0001c0003t0001a0001c0003t0002a0001c0034t0002others(1): Show | a0001c0003t0001g0346 a0001c0003t0002g0315 a0001c0034t0002g0045 others(1): Show |
4 | 360 | 0.0111 | 5 | c.924 others(22): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4461361 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01255.hp2 HG01515.hp2 others(6): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0009others(3): Show | a0001c0003t0001a0001c0006t0001a0001c0006t0002others(4): Show | a0001c0003t0001g0309 a0001c0006t0001g0010 a0001c0006t0002g0011 others(6): Show |
9 | 109 | 0.0826 | 5 | c.111 others(24): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPO11_chr20_57324803_57348993 | 57343776 | A | ATACTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0039 a0001c0002t0004g0013 a0001c0002t0004g0018 others(7): Show |
17 | 320 | 0.0531 | 5 | c.*31 others(14): Show |
SPO11 | ENSG00000054796.13 | transcript | ENST00000371263.8 | protein_coding | 13/13 | 319 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SPOCD1_chr1_31785422_31821022 | 31804688 | T | TAGAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(172): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(168): Show |
175 | 258 | 0.6783 | 5 | c.138 others(24): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31810354 | A | ATTTTT | intron_variant | MODIFIER | HG02040.hp2 HG02056.hp2 HG02602.hp2 others(10): Show |
a0001a0002a0016 | a0001c0001a0002c0002a0016c0017 | a0001c0001t0001a0002c0002t0002a0016c0017t0001 | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0035 others(8): Show |
13 | 81 | 0.1605 | 5 | c.138 others(24): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31817758 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(66): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(64): Show |
69 | 72 | 0.9583 | 5 | c.-18 others(16): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1737 | chr1 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131971 | C | CAAAAA | intron_variant | MODIFIER | HG01358.hp2 HG01515.hp1 HG01516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012 | a0001c0001t0003g0058 a0001c0001t0004g0033 a0001c0001t0004g0045 others(2): Show |
5 | 113 | 0.0442 | 5 | c.347 others(22): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131989 | A | ATATAT | intron_variant | MODIFIER | HG01884.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0001 a0001c0002t0002g0128 |
2 | 64 | 0.0313 | 5 | c.347 others(22): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137166435 | G | GAAAAA | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0002t0001a0001c0002t0005others(3): Show | a0001c0001t0002g0119 a0001c0002t0001g0050 a0001c0002t0005g0111 others(3): Show |
6 | 150 | 0.0400 | 5 | c.233 others(24): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137238524 | A | AGAATC | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(135): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 others(135): Show |
138 | 152 | 0.9079 | 5 | c.232 others(24): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137358455 | A | AAGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01358.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0002g0135 others(23): Show |
26 | 143 | 0.1818 | 5 | c.187 others(24): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166750547 | G | GGAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0085 others(100): Show |
103 | 141 | 0.7305 | 5 | c.931 others(22): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166797104 | G | GACTCT | intron_variant | MODIFIER | HG02071.hp2 HG02132.hp2 HG02165.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0095 others(8): Show |
11 | 142 | 0.0775 | 5 | c.590 others(22): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166840771 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01346.hp1 HG02056.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0096 others(10): Show |
13 | 50 | 0.2600 | 5 | c.589 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166899508 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00741.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0055 a0001c0001t0001g0130 a0001c0001t0001g0134 others(29): Show |
32 | 82 | 0.3902 | 5 | c.475 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109000 | A | AAATAT | intron_variant | MODIFIER | HG02040.hp1 HG02257.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0001 | a0001c0001t0002g0031 a0003c0006t0001g0073 |
2 | 142 | 0.0141 | 5 | c.190 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109064 | A | ATATAT | intron_variant | MODIFIER | HG01261.hp1 HG02280.hp2 HG02683.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0066 others(2): Show |
5 | 142 | 0.0352 | 5 | c.190 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167196236 | C | CTTATT | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0003g0019 a0001c0001t0005g0037 a0001c0001t0011g0039 others(1): Show |
4 | 142 | 0.0282 | 5 | c.189 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205353 | T | TATATA | intron_variant | MODIFIER | HG01261.hp1 HG02683.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001 | a0001c0001t0001g0066 a0001c0001t0014g0062 a0001c0002t0001g0080 |
3 | 137 | 0.0219 | 5 | c.189 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 13962708 | G | GGCTCA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(44): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0184 others(44): Show |
47 | 222 | 0.2117 | 5 | c.-19 others(14): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 14 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 13990373 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02683.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0012others(1): Show | a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0002t0001g0003 others(3): Show |
6 | 21 | 0.2857 | 5 | c.345 others(22): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 13992083 | A | ATGCTG | intron_variant | MODIFIER | HG00642.hp1 HG01258.hp1 HG03834.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0001 | a0001c0002t0003g0180 a0001c0004t0001g0080 a0001c0004t0001g0081 |
3 | 222 | 0.0135 | 5 | c.345 others(22): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14008138 | T | TAAAAC | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009a0001c0002t0019 | a0001c0002t0001g0037 a0001c0002t0001g0158 a0001c0002t0009g0161 others(1): Show |
4 | 222 | 0.0180 | 5 | c.345 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14141029 | C | CCCCCA | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01346.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0139 a0001c0001t0001g0163 others(13): Show |
16 | 150 | 0.1067 | 5 | c.825 others(22): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14147751 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(77): Show |
80 | 211 | 0.3791 | 5 | c.825 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14155497 | T | TTTTTA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(87): Show |
90 | 222 | 0.4054 | 5 | c.825 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14160739 | A | ATATAT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0028 others(84): Show |
87 | 207 | 0.4203 | 5 | c.825 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0060 others(23): Show |
26 | 92 | 0.2826 | 5 | c.*69 others(16): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | |||||||
SPOP_chr17_49593884_49683097 | 49630607 | C | CTTTCT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(338): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(330): Show |
341 | 388 | 0.8789 | 5 | c.-66 others(22): Show |
SPOP | ENSG00000121067.19 | transcript | ENST00000504102.6 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
SPOUT1_chr9_128814651_128834794 | 128818108 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02027.hp2 others(18): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0007a0002c0011others(3): Show | a0002c0002t0002a0002c0002t0020a0002c0007t0002others(9): Show | a0002c0002t0002g0002 a0002c0002t0020g0040 a0002c0007t0002g0018 others(9): Show |
21 | 230 | 0.0913 | 5 | c.*46 others(16): Show |
SPOUT1 | ENSG00000198917.13 | transcript | ENST00000361256.10 | protein_coding | 1542 | chr9 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50703354 | A | ATTTTT | 3_prime_UTR_variant | MODIFIER | HG02083.hp1 NA18971.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0025others(1): Show | a0001c0001t0002g0257 a0001c0001t0008g0261 a0001c0001t0025g0155 others(1): Show |
4 | 278 | 0.0144 | 5 | c.*44 others(16): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 15/15 | 4445 | chr15 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2330275 | A | ATTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01257.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0289 others(4): Show |
9 | 196 | 0.0459 | 5 | c.66+ others(20): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120763808 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG01169.hp2 HG02083.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0016a0001c0001t0021 | a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0035 others(4): Show |
7 | 52 | 0.1346 | 5 | c.*11 others(16): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 11/11 | 1190 | chr12 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120778111 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(9): Show | a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 others(73): Show |
76 | 127 | 0.5984 | 5 | c.502 others(22): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120779820 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01243.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0004g0183 a0001c0001t0007g0205 a0001c0001t0008g0120 others(18): Show |
21 | 70 | 0.3000 | 5 | c.502 others(22): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120781555 | G | GTGTTT | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0002t0005others(1): Show | a0001c0001t0004g0172 a0001c0001t0004g0183 a0001c0001t0017g0128 others(12): Show |
15 | 17 | 0.8824 | 5 | c.502 others(22): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120830536 | A | AGAGGG | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(178): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(177): Show |
181 | 317 | 0.5710 | 5 | c.24- others(22): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120852803 | C | CATATG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(150): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(150): Show |
153 | 223 | 0.6861 | 5 | c.24- others(22): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120852803 | C | CATATT | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0185 |
3 | 73 | 0.0411 | 5 | c.24- others(22): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120884808 | G | GGGTTT | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp2 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0234 a0001c0001t0002g0254 a0001c0001t0002g0255 others(7): Show |
10 | 205 | 0.0488 | 5 | c.23+ others(22): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38316748 | G | GGTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01361.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0110 others(17): Show |
20 | 25 | 0.8000 | 5 | c.208 others(22): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38340995 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(79): Show |
86 | 121 | 0.7107 | 5 | c.582 others(22): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38357906 | G | GCCCCC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0093 others(25): Show |
28 | 152 | 0.1842 | 5 | c.*62 others(16): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 658 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65323959 | C | CATGTT | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0009t0001 | a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0232 others(2): Show |
5 | 274 | 0.0182 | 5 | c.439 others(22): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65349308 | C | CAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG02074.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0258 a0001c0002t0001g0092 a0001c0002t0001g0093 others(3): Show |
6 | 85 | 0.0706 | 5 | c.27- others(20): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133426429 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02738.hp2 others(8): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0004a0002c0002t0007others(6): Show | a0001c0001t0001g0001 a0002c0002t0004g0005 a0002c0002t0007g0011 others(6): Show |
11 | 227 | 0.0485 | 5 | c.-19 others(16): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 1805 | chr10 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133426430 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(135): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0069 others(32): Show |
138 | 472 | 0.2924 | 5 | c.-19 others(16): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 1806 | chr10 | TogoVar | |||||||
SPRR5_chr1_152942206_152954255 | 152946678 | C | CTCTTG | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0008 a0004c0004t0005g0013 a0004c0004t0005g0020 |
8 | 434 | 0.0184 | 5 | c.-58 others(14): Show |
SPRR5 | ENSG00000283227.2 | transcript | ENST00000636302.2 | protein_coding | 527 | chr1 | TogoVar |