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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLCO5A1_chr8_69662046_69839978 | 69772563 | AGAAAGGA others(13): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02145.hp2 HG02280.hp1 others(2): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0020 | a0001c0001t0039a0002c0002t0002a0002c0002t0009others(2): Show | a0001c0001t0039g0157 a0002c0002t0002g0098 a0002c0002t0009g0122 others(2): Show |
5 | 73 | 0.0685 | -20 | c.908 others(39): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLCO5A1_chr8_69662046_69839978 | 69784895 | GAAGAAAG others(13): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01106.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0023others(11): Show | a0001c0001t0003g0008 a0001c0001t0008g0181 a0001c0001t0023g0139 others(12): Show |
15 | 71 | 0.2113 | -20 | c.908 others(39): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLCO6A1_chr5_102366774_102504001 | 102460899 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 20 | 0.0500 | -20 | c.900 others(37): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
SLCO6A1_chr5_102366774_102504001 | 102498364 | GGCTGGGC others(13): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 339 | 0.0029 | -20 | c.358 others(35): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
SLFN11_chr17_35345305_35378621 | 35349755 | CAAAATAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp1 HG03098.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0007 | a0002c0001t0003g0008 a0002c0001t0003g0030 a0002c0001t0007g0284 |
6 | 385 | 0.0156 | -20 | c.*25 others(31): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 549 | chr17 | TogoVar | |||||||
SLFN11_chr17_35345305_35378621 | 35378447 | GTATATAT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0155 | 1 | 78 | 0.0128 | -20 | c.-52 others(31): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 4827 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35476454 | CAAGGAAG others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG00733.hp2 others(41): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0004 | a0001c0001t0087a0003c0005t0007a0003c0005t0014others(13): Show | a0001c0001t0087g0085 a0003c0005t0007g0106 a0003c0005t0007g0149 others(41): Show |
44 | 125 | 0.3520 | -20 | c.127 others(37): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35495900 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0022 | 1 | 28 | 0.0357 | -20 | c.87- others(37): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35530420 | AGGAAGGA others(13): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0193 | 1 | 328 | 0.0030 | -20 | c.-60 others(39): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35539332 | AAAAGAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01261.hp1 NA19012.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0132a0001c0002t0017others(2): Show | a0001c0001t0004g0309 a0001c0001t0132g0308 a0001c0002t0017g0317 others(4): Show |
7 | 189 | 0.0370 | -20 | c.-23 others(31): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1655 | chr17 | TogoVar | |||||||
SLFN14_chr17_35538985_35565819 | 35539332 | AAAAGAAA others(13): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01261.hp1 HG03669.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0018 | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0109 others(2): Show |
14 | 234 | 0.0598 | -20 | c.*88 others(31): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 4652 | chr17 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97166554 | GGAAAGAG others(13): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0002 | 1 | 226 | 0.0044 | -20 | c.198 others(37): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20260919 | TTCCTTAC others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp1 HG02559.hp1 others(21): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0025others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0013others(12): Show | a0001c0001t0003g0230 a0001c0001t0007g0165 a0001c0001t0007g0168 others(21): Show |
24 | 228 | 0.1053 | -20 | c.323 others(37): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291478 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0156 | 1 | 216 | 0.0046 | -20 | c.395 others(39): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291482 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0035 | 1 | 212 | 0.0047 | -20 | c.395 others(39): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20307156 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 154 | 0.0065 | -20 | c.395 others(39): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20381899 | TAATACAT others(13): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG01168.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0123 a0001c0001t0003g0042 a0001c0001t0003g0043 others(19): Show |
22 | 228 | 0.0965 | -20 | c.396 others(39): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20463448 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG02622.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0026a0001c0008t0032 | a0001c0001t0026g0029 a0001c0008t0032g0021 |
2 | 47 | 0.0426 | -20 | c.396 others(37): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20470484 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0037a0001c0004t0002 | a0001c0001t0037g0187 a0001c0004t0002g0124 |
2 | 39 | 0.0513 | -20 | c.467 others(37): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518571 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0179 | 1 | 228 | 0.0044 | -20 | c.105 others(37): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518573 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0081 a0001c0001t0004g0206 a0001c0001t0006g0082 others(3): Show |
6 | 223 | 0.0269 | -20 | c.105 others(37): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168755389 | ATTTCTTT others(13): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp1 HG02735.hp2 |
a0002 | a0002c0002a0002c0008a0002c0019 | a0002c0002t0017a0002c0008t0002a0002c0019t0001 | a0002c0002t0017g0119 a0002c0008t0002g0020 a0002c0019t0001g0009 |
3 | 12 | 0.2500 | -20 | c.168 others(39): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 16/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169015931 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02976.hp1 HG03139.hp2 others(2): Show |
a0001a0002a0004 | a0001c0010a0002c0002a0002c0018others(2): Show | a0001c0010t0035a0002c0002t0023a0002c0018t0019others(2): Show | a0001c0010t0035g0103 a0002c0002t0023g0086 a0002c0018t0019g0126 others(2): Show |
5 | 54 | 0.0926 | -20 | c.414 others(41): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169189527 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01255.hp2 HG01934.hp1 others(12): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0031others(12): Show | a0001c0001t0001g0072 a0001c0001t0003g0110 a0001c0003t0031g0026 others(12): Show |
15 | 28 | 0.5357 | -20 | c.413 others(37): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169207370 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0043 | 1 | 81 | 0.0123 | -20 | c.342 others(39): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 3/35 | chr5 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57771143 | TCTCCCCT others(13): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0305 | 1 | 70 | 0.0143 | -20 | c.198 others(39): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57853955 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 69 | 0.0145 | -20 | c.520 others(37): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57880169 | TTTTTGTT others(13): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0297 | 1 | 136 | 0.0074 | -20 | c.130 others(39): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10431527 | AAAACCAA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18954.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 a0001c0001t0001g0241 |
2 | 131 | 0.0153 | -20 | c.-39 others(31): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 3777 | chr20 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10455579 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00621.hp2 others(92): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 others(92): Show |
95 | 102 | 0.9314 | -20 | c.-29 others(37): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10512776 | CTCTATAT others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0161 others(1): Show |
4 | 85 | 0.0471 | -20 | c.28- others(37): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10518490 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0004g0028 a0001c0001t0006g0013 a0001c0001t0009g0051 others(6): Show |
9 | 48 | 0.1875 | -20 | c.28- others(37): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44979395 | GTGCCGCG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 332 | 0.0030 | -20 | c.*25 others(31): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2423 | chr21 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44979429 | AGGAGGGT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 | 1 | 332 | 0.0030 | -20 | c.*26 others(31): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2457 | chr21 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47820896 | TACACACA others(13): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(122): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(99): Show | a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0204 others(122): Show |
125 | 141 | 0.8865 | -20 | c.*20 others(33): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 20911 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47919469 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01109.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(30): Show | a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0148 others(42): Show |
46 | 75 | 0.6133 | -20 | c.-54 others(39): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 1/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67182994 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 290 | 0.0034 | -20 | c.871 others(37): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67183015 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0002 | 2 | 308 | 0.0065 | -20 | c.871 others(37): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51042287 | GCCTCCCT others(13): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0005 a0001c0002t0016g0020 |
3 | 187 | 0.0160 | -20 | c.-12 others(39): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51073384 | TATATACA others(13): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0005 a0001c0002t0016g0020 |
3 | 298 | 0.0101 | -20 | c.130 others(39): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD6_chr15_66697236_66787849 | 66718111 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG02155.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0168 |
2 | 118 | 0.0169 | -20 | c.952 others(37): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAGP_chr12_51239558_51275415 | 51248426 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG01928.hp1 NA18947.hp1 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0026 a0001c0001t0002g0305 a0001c0001t0002g0321 others(1): Show |
4 | 354 | 0.0113 | -20 | c.35- others(35): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAGP_chr12_51239558_51275415 | 51248428 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | HG01074.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 359 | 0.0056 | -20 | c.35- others(35): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAGP_chr12_51239558_51275415 | 51248430 | ACACACTC others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG02698.hp1 HG02698.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0128 a0001c0001t0001g0133 others(4): Show |
7 | 351 | 0.0199 | -20 | c.35- others(35): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAP1_chr6_70662883_70867003 | 70725093 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | NA18956.hp2 NA18982.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0089 a0001c0001t0001g0211 a0001c0001t0013g0108 |
3 | 7 | 0.4286 | -20 | c.119 others(37): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70808902 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0109 | 1 | 31 | 0.0323 | -20 | c.576 others(39): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA1_chrX_129441506_129528490 | 129479653 | ATATTTTA others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0014 a0001c0001t0001g0110 a0001c0001t0001g0126 others(30): Show |
34 | 106 | 0.3208 | -20 | c.244 others(39): Show |
SMARCA1 | ENSG00000102038.16 | transcript | ENST00000371121.5 | protein_coding | 19/24 | chrX | TogoVar | |||||||
SMARCA2_chr9_2010347_2198620 | 2035008 | CTTTATTT others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG01928.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0012 | a0001c0001t0002a0003c0006t0002a0003c0012t0010 | a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0225 others(2): Show |
5 | 146 | 0.0342 | -20 | c.355 others(37): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2060118 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0238 | 1 | 69 | 0.0145 | -20 | c.152 others(37): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 10959647 | AAAACAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp1 HG02738.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0275 a0001c0011t0001g0276 a0001c0011t0001g0277 others(1): Show |
4 | 23 | 0.1739 | -20 | c.-15 others(31): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 1382 | chr19 | TogoVar |