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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC9C1_chr3_112135898_112299216 | 112183349 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01081.hp2 others(10): Show |
a0002a0004a0009 | a0002c0001a0004c0004a0004c0005others(1): Show | a0002c0001t0001a0004c0004t0001a0004c0005t0001others(1): Show | a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0203 others(10): Show |
13 | 15 | 0.8667 | 19 | c.252 others(38): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 20/28 | chr3 | TogoVar | |||||||
SLCO1B1_chr12_21126194_21244796 | 21152533 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03516.hp2 NA18962.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0001t0002g0244 a0001c0003t0002g0225 a0001c0003t0002g0226 others(2): Show |
5 | 56 | 0.0893 | 19 | c.84+ others(36): Show |
SLCO1B1 | ENSG00000134538.3 | transcript | ENST00000256958.3 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SLCO1C1_chr12_20690332_20758386 | 20740787 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 6 | 0.1667 | 19 | c.173 others(36): Show |
SLCO1C1 | ENSG00000139155.9 | transcript | ENST00000266509.7 | protein_coding | 12/14 | chr12 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 91917655 | G | GGGGAAGA others(12): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18980.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0151 a0001c0001t0004g0086 a0001c0001t0005g0152 |
3 | 188 | 0.0160 | 19 | c.646 others(36): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92047198 | T | TAATATAT others(12): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0016 | 1 | 183 | 0.0055 | 19 | c.647 others(38): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92047351 | T | TAATATAT others(12): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 174 | 0.0057 | 19 | c.647 others(38): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO4A1_chr20_62637503_62677293 | 62666118 | G | GCCCCCCC others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01258.hp2 HG02615.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0039 a0001c0001t0002g0054 a0001c0001t0002g0065 others(4): Show |
8 | 146 | 0.0548 | 19 | c.127 others(36): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLFN11_chr17_35345305_35378621 | 35349342 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 NA18986.hp1 |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 a0002c0001t0003g0155 |
2 | 109 | 0.0183 | 19 | c.*30 others(30): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 962 | chr17 | TogoVar | |||||||
SLFN11_chr17_35345305_35378621 | 35349343 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG03453.hp1 |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0053 a0002c0001t0003g0166 |
2 | 416 | 0.0048 | 19 | c.*30 others(30): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 961 | chr17 | TogoVar | |||||||
SLFN11_chr17_35345305_35378621 | 35349801 | A | AAAATAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01106.hp2 others(5): Show |
a0002a0003a0013others(1): Show | a0002c0001a0003c0005a0013c0018others(1): Show | a0002c0001t0002a0003c0005t0002a0013c0018t0002others(1): Show | a0002c0001t0002g0037 a0002c0001t0002g0219 a0003c0005t0002g0066 others(4): Show |
8 | 295 | 0.0271 | 19 | c.*25 others(30): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 503 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35530523 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0005 | a0003c0005t0047 | a0003c0005t0047g0034 | 1 | 349 | 0.0029 | 19 | c.-60 others(38): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SLFN12_chr17_35405922_35437500 | 35434428 | A | AGAGGAAG others(12): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02071.hp1 HG03516.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0004 a0001c0001t0001g0242 a0001c0001t0001g0249 others(2): Show |
6 | 422 | 0.0142 | 19 | c.-22 others(30): Show |
SLFN12 | ENSG00000172123.13 | transcript | ENST00000304905.10 | protein_coding | 1929 | chr17 | TogoVar | |||||||
SLFN13_chr17_35430096_35453766 | 35434428 | A | AGAGGAAG others(12): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02071.hp2 HG03516.hp2 others(3): Show |
a0002a0011 | a0002c0002a0002c0014a0011c0012 | a0002c0002t0003a0002c0014t0003a0011c0012t0011others(1): Show | a0002c0002t0003g0003 a0002c0014t0003g0084 a0002c0014t0003g0169 others(2): Show |
6 | 450 | 0.0133 | 19 | c.*61 others(30): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 667 | chr17 | TogoVar | |||||||
SLFN13_chr17_35430096_35453766 | 35434453 | A | AAGGAAGG others(12): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 180 | 0.0056 | 19 | c.*61 others(30): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 642 | chr17 | TogoVar | |||||||
SLFN14_chr17_35538985_35565819 | 35561745 | A | AAAGAAAG others(12): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02738.hp1 |
a0007 | a0007c0008 | a0007c0008t0008 | a0007c0008t0008g0014 | 2 | 198 | 0.0101 | 19 | c.-11 others(30): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 927 | chr17 | TogoVar | |||||||
SLFN14_chr17_35538985_35565819 | 35561749 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 NA18954.hp1 NA18990.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 a0002c0002t0003g0018 a0002c0002t0003g0099 |
5 | 284 | 0.0176 | 19 | c.-11 others(30): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 931 | chr17 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97002414 | A | AGCCCCAC others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0087 | 1 | 254 | 0.0039 | 19 | c.415 others(34): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 35/36 | chr10 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20324350 | T | TTGTATTG others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02165.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(12): Show | a0001c0001t0005g0058 a0001c0001t0007g0168 a0001c0001t0007g0170 others(13): Show |
16 | 228 | 0.0702 | 19 | c.395 others(38): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20511587 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02886.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0022a0001c0002t0053a0001c0003t0010 | a0001c0002t0022g0120 a0001c0002t0053g0160 a0001c0003t0010g0222 |
3 | 61 | 0.0492 | 19 | c.105 others(36): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518587 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0154 | 1 | 174 | 0.0057 | 19 | c.105 others(36): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518587 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 174 | 0.0057 | 19 | c.105 others(36): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518588 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02300.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0001t0020a0001c0002t0010others(2): Show | a0001c0001t0013g0172 a0001c0001t0020g0130 a0001c0002t0010g0216 others(2): Show |
5 | 179 | 0.0279 | 19 | c.105 others(36): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | chr4 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168798220 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18974.hp1 NA21309.hp1 |
a0002 | a0002c0002a0002c0030 | a0002c0002t0019a0002c0030t0002 | a0002c0002t0019g0105 a0002c0030t0002g0033 |
2 | 46 | 0.0435 | 19 | c.936 others(36): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 9/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168901362 | T | TCAAACAA others(12): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0049 | a0002c0049t0003 | a0002c0049t0003g0127 | 1 | 79 | 0.0127 | 19 | c.414 others(38): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168952528 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03225.hp1 NA19030.hp1 others(1): Show |
a0001a0002a0015 | a0001c0003a0001c0013a0002c0005others(1): Show | a0001c0003t0015a0001c0013t0001a0002c0005t0003others(1): Show | a0001c0003t0015g0074 a0001c0013t0001g0047 a0002c0005t0003g0128 others(1): Show |
4 | 55 | 0.0727 | 19 | c.414 others(38): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168967437 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG02976.hp2 |
a0001a0002 | a0001c0015a0002c0008a0002c0043 | a0001c0015t0016a0002c0008t0002a0002c0043t0027 | a0001c0015t0016g0089 a0002c0008t0002g0017 a0002c0043t0027g0052 |
3 | 12 | 0.2500 | 19 | c.414 others(38): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169079702 | A | AGAGGAGG others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 NA19030.hp2 |
a0001a0002 | a0001c0003a0002c0019a0002c0053 | a0001c0003t0016a0002c0019t0001a0002c0053t0003 | a0001c0003t0016g0050 a0002c0019t0001g0009 a0002c0053t0003g0123 |
3 | 115 | 0.0261 | 19 | c.413 others(40): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165196887 | C | CTCTAGCA others(12): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 412 | 0.0024 | 19 | c.-13 others(30): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 504 | chr3 | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165196927 | C | CTCTCTCT others(12): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02809.hp2 NA19000.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0002g0001 a0002c0002t0001g0008 |
3 | 391 | 0.0077 | 19 | c.-13 others(30): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 544 | chr3 | TogoVar | |||||||
SLK_chr10_103962140_104034233 | 103974655 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(84): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0014a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0211 others(78): Show |
87 | 182 | 0.4780 | 19 | c.150 others(36): Show |
SLK | ENSG00000065613.15 | transcript | ENST00000369755.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57869630 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 63 | 0.0159 | 19 | c.123 others(38): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | chr3 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57869660 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 306 | 0.0033 | 19 | c.123 others(38): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | chr3 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57906300 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0179 a0001c0001t0011g0191 |
2 | 242 | 0.0083 | 19 | c.150 others(38): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906310 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0281 | 1 | 120 | 0.0083 | 19 | c.150 others(38): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLPI_chr20_45247239_45259564 | 45258288 | A | AGATAGAT others(12): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02965.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 others(2): Show |
6 | 355 | 0.0169 | 19 | c.-37 others(30): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 3725 | chr20 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58882181 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03540.hp1 NA18986.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0240 a0001c0001t0002g0270 a0001c0001t0002g0303 others(1): Show |
4 | 34 | 0.1176 | 19 | c.299 others(38): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 20/20 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58922377 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02886.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0247 a0001c0002t0001g0092 a0001c0002t0001g0097 |
3 | 15 | 0.2000 | 19 | c.251 others(36): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
SLX1B_chr16_29449533_29463219 | 29450761 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 49 | 0.0204 | 19 | c.-39 others(30): Show |
SLX1B | ENSG00000181625.18 | transcript | ENST00000330181.10 | protein_coding | 3771 | chr16 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47830576 | C | CAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0016 | 1 | 23 | 0.0435 | 19 | c.*11 others(32): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 11250 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850626 | A | ATATATTA others(12): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0062a0001c0001t0179 | a0001c0001t0061g0212 a0001c0001t0062g0209 a0001c0001t0179g0162 |
3 | 301 | 0.0100 | 19 | c.784 others(34): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47850669 | A | ATATATTA others(12): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0163 | a0001c0001t0163g0168 | 1 | 275 | 0.0036 | 19 | c.784 others(34): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47882041 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0220 | 1 | 40 | 0.0250 | 19 | c.237 others(38): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67113095 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0023 | 1 | 307 | 0.0033 | 19 | c.206 others(38): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67160770 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0104 a0001c0002t0004g0257 |
2 | 4 | 0.5000 | 19 | c.207 others(36): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67177422 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0016 | a0001c0001t0007g0101 a0001c0001t0008g0055 a0001c0001t0008g0066 others(1): Show |
4 | 5 | 0.8000 | 19 | c.659 others(36): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182998 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 237 | 0.0042 | 19 | c.871 others(36): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67183031 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0224 a0001c0001t0007g0278 |
2 | 126 | 0.0159 | 19 | c.871 others(36): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67183032 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03704.hp1 NA19004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0002t0015 | a0001c0001t0007g0247 a0001c0001t0008g0052 a0001c0002t0015g0032 |
3 | 278 | 0.0108 | 19 | c.871 others(36): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
SMAD4_chr18_51025213_51090042 | 51088069 | T | TTGAAATA others(12): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0277 | 1 | 300 | 0.0033 | 19 | c.*96 others(30): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 3028 | chr18 | TogoVar | |||||||
SMAP1_chr6_70662883_70867003 | 70725093 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 5 | 0.2000 | 19 | c.119 others(36): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |