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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC23A2_chr20_4847358_5006510 | 4894718 | GTCTGCAA others(26): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0022 | a0001c0022t0030 | a0001c0022t0030g0189 | 1 | 201 | 0.0050 | -33 | c.482 others(50): Show |
SLC23A2 | ENSG00000089057.15 | transcript | ENST00000338244.6 | protein_coding | 6/16 | chr20 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19322350 | TTTCCTTC others(26): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0118 | 1 | 129 | 0.0078 | -33 | c.271 others(52): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC24A4_chr14_92318165_92506481 | 92388633 | TGCCTCCT others(26): Show |
T | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 280 | 0.0036 | -33 | c.242 others(52): Show |
SLC24A4 | ENSG00000140090.18 | transcript | ENST00000532405.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC25A13_chr7_96115220_96327098 | 96117676 | CAAAAAAA others(26): Show |
C | downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 38 | 0.0263 | -33 | c.*34 others(44): Show |
SLC25A13 | ENSG00000004864.14 | transcript | ENST00000265631.10 | protein_coding | 2543 | chr7 | TogoVar | |||||||
SLC25A1_chr22_19170581_19183736 | 19177346 | TGCCCACA others(26): Show |
T | intron_variant | MODIFIER | HG02080.hp1 HG02083.hp2 HG02735.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0032 others(1): Show |
16 | 422 | 0.0379 | -33 | c.442 others(48): Show |
SLC25A1 | ENSG00000100075.10 | transcript | ENST00000215882.10 | protein_coding | 4/8 | chr22 | TogoVar | |||||||
SLC25A32_chr8_103393638_103420107 | 103418844 | ATATATAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 353 | 0.0028 | -33 | c.-39 others(44): Show |
SLC25A32 | ENSG00000164933.13 | transcript | ENST00000297578.9 | protein_coding | 3738 | chr8 | TogoVar | |||||||
SLC25A37_chr8_23523956_23580463 | 23546531 | GTATATAT others(26): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 | 1 | 276 | 0.0036 | -33 | c.210 others(52): Show |
SLC25A37 | ENSG00000147454.14 | transcript | ENST00000519973.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLC26A6_chr3_48620723_48640461 | 48635260 | CCGAGGCG others(26): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00639.hp1 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(4): Show | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(12): Show |
59 | 276 | 0.2138 | -33 | c.23+ others(45): Show |
SLC26A6 | ENSG00000225697.13 | transcript | ENST00000395550.7 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SLC2A14_chr12_7807514_7877915 | 7874808 | ATACGTAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(80): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0003a0001c0003t0001a0001c0004t0001others(9): Show | a0001c0002t0003g0079 a0001c0002t0003g0088 a0001c0002t0003g0090 others(79): Show |
83 | 176 | 0.4716 | -33 | c.-20 others(44): Show |
SLC2A14 | ENSG00000173262.12 | transcript | ENST00000431042.7 | protein_coding | 1894 | chr12 | TogoVar | |||||||
SLC35E2B_chr1_1656478_1697795 | 1681988 | CAAAAAAA others(26): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0057 a0001c0001t0007g0093 |
2 | 13 | 0.1538 | -33 | c.-14 others(52): Show |
SLC35E2B | ENSG00000189339.12 | transcript | ENST00000617444.5 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SLC35F2_chr11_107785991_107863787 | 107818071 | AAAAAGAA others(26): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0114 | 1 | 298 | 0.0034 | -33 | c.111 others(50): Show |
SLC35F2 | ENSG00000110660.15 | transcript | ENST00000525815.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234325975 | GGAAGAAG others(26): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0087 | 1 | 124 | 0.0081 | -33 | c.*27 others(44): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 1465 | chr1 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234326008 | AGAAGAAG others(26): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0104 others(6): Show |
9 | 156 | 0.0577 | -33 | c.*27 others(44): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 1498 | chr1 | TogoVar | |||||||
SLC37A1_chr21_42508852_42586426 | 42540144 | AGCATGTA others(26): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0152 | 1 | 354 | 0.0028 | -33 | c.486 others(48): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC38A1_chr12_46178063_46274043 | 46238777 | TTCCTACC others(26): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0003 | a0003c0005 | a0003c0005t0051 | a0003c0005t0051g0039 | 1 | 328 | 0.0030 | -33 | c.122 others(48): Show |
SLC38A1 | ENSG00000111371.16 | transcript | ENST00000398637.10 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
SLC38A9_chr5_55620848_55717324 | 55696231 | CCCAGTAG others(26): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0003a0002c0011others(4): Show | a0002c0002t0001a0002c0003t0002a0002c0003t0004others(5): Show | a0002c0002t0001g0178 a0002c0002t0001g0196 a0002c0002t0001g0208 others(143): Show |
147 | 348 | 0.4224 | -33 | c.113 others(50): Show |
SLC38A9 | ENSG00000177058.12 | transcript | ENST00000396865.7 | protein_coding | 3/15 | chr5 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72729425 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | NA18906.hp2 NA20129.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0006 | a0001c0001t0002g0004 a0003c0003t0006g0006 |
2 | 176 | 0.0114 | -33 | c.671 others(50): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22385412 | AATAGGGC others(26): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0284 | 1 | 322 | 0.0031 | -33 | c.-16 others(52): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC39A2_chr14_20994293_21006871 | 21004320 | TTTGTGTG others(26): Show |
T | downstream_gene_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 464 | 0.0022 | -33 | c.*27 others(44): Show |
SLC39A2 | ENSG00000165794.10 | transcript | ENST00000298681.5 | protein_coding | 2450 | chr14 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203432 | GGAGAGAG others(26): Show |
G | downstream_gene_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0157 | 1 | 157 | 0.0064 | -33 | c.*81 others(44): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3741 | chr8 | TogoVar | |||||||
SLC6A11_chr3_10811228_10945714 | 10811799 | TCCAAAAA others(26): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01952.hp2 HG02027.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0067 a0001c0001t0001g0217 a0001c0001t0001g0219 others(24): Show |
27 | 45 | 0.6000 | -33 | c.-44 others(44): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 4428 | chr3 | TogoVar | |||||||
SLC6A4_chr17_30189319_30240697 | 30221393 | TCCCAGGT others(26): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(70): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0056 a0001c0001t0002g0003 a0001c0001t0002g0004 others(62): Show |
73 | 284 | 0.2570 | -33 | c.343 others(48): Show |
SLC6A4 | ENSG00000108576.10 | transcript | ENST00000650711.1 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
SLC6A5_chr11_20594608_20664285 | 20647314 | GTTATATA others(26): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(189): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0021others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(50): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(159): Show |
192 | 330 | 0.5818 | -33 | c.207 others(50): Show |
SLC6A5 | ENSG00000165970.12 | transcript | ENST00000525748.6 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC6A6_chr3_14397606_14494349 | 14436531 | CTTTTTTT others(26): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 2 | 0.5000 | -33 | c.-11 others(50): Show |
SLC6A6 | ENSG00000131389.18 | transcript | ENST00000622186.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC9A1_chr1_27093809_27160125 | 27135606 | TTACTGTC others(26): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0008 | 1 | 232 | 0.0043 | -33 | c.352 others(52): Show |
SLC9A1 | ENSG00000090020.11 | transcript | ENST00000263980.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92016221 | ATAGATAG others(26): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00735.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0003g0057 others(14): Show |
17 | 188 | 0.0904 | -33 | c.647 others(52): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLF2_chr10_100907963_100970134 | 100959042 | AGGCACAG others(26): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 328 | 0.0030 | -33 | c.341 others(50): Show |
SLF2 | ENSG00000119906.13 | transcript | ENST00000238961.9 | protein_coding | 18/19 | chr10 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35530414 | GAAGGAAG others(26): Show |
G | intron_variant | MODIFIER | NA18967.hp2 NA19088.hp1 |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0003a0005c0006t0091 | a0004c0004t0003g0138 a0005c0006t0091g0153 |
2 | 355 | 0.0056 | -33 | c.-60 others(52): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20291468 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0054 | a0001c0001t0007g0170 a0001c0001t0054g0157 |
2 | 220 | 0.0091 | -33 | c.395 others(52): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291470 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0178 | 1 | 214 | 0.0047 | -33 | c.395 others(52): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168907925 | TTATATAT others(26): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0057 | a0003c0057t0017 | a0003c0057t0017g0096 | 1 | 92 | 0.0109 | -33 | c.414 others(52): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLURP1_chr8_142735949_142747406 | 142745294 | GGATGGAG others(26): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -33 | c.-29 others(44): Show |
SLURP1 | ENSG00000126233.2 | transcript | ENST00000246515.2 | protein_coding | 2889 | chr8 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978596 | CGTGTGGA others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 281 | 0.0036 | -33 | c.*17 others(44): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1624 | chr21 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978607 | TGTGTGGG others(26): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02257.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0136 a0001c0001t0001g0137 others(3): Show |
7 | 300 | 0.0233 | -33 | c.*18 others(44): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1635 | chr21 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978684 | GGTGTGGG others(26): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG03579.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show |
4 | 182 | 0.0220 | -33 | c.*18 others(44): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1712 | chr21 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978706 | TGTGTGGA others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 165 | 0.0061 | -33 | c.*19 others(44): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1734 | chr21 | TogoVar | |||||||
SMARCA2_chr9_2010347_2198620 | 2044806 | ATATGTAA others(26): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 314 | 0.0032 | -33 | c.791 others(50): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2148622 | GATGTTTT others(26): Show |
G | intron_variant | MODIFIER | NA18952.hp2 NA19091.hp1 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0001 | a0001c0003t0001g0307 a0002c0005t0001g0175 |
2 | 314 | 0.0064 | -33 | c.398 others(54): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2748479 | TGCCTCCC others(26): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(127): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0004a0001c0012others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0031others(18): Show | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(127): Show |
130 | 338 | 0.3846 | -33 | c.392 others(50): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196515983 | GATAGGAT others(26): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02258.hp1 others(21): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0002c0002t0005a0004c0004t0012 | a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0024 others(10): Show |
24 | 300 | 0.0800 | -33 | c.-80 others(42): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 638 | chr3 | TogoVar | |||||||
SMIM33_chr5_139466004_139478700 | 139476121 | TAAGATGT others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -33 | c.*32 others(44): Show |
SMIM33 | ENSG00000283288.2 | transcript | ENST00000637503.2 | protein_coding | 2422 | chr5 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55505503 | AAGGCCTT others(26): Show |
A | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 338 | 0.0030 | -33 | c.*17 others(52): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMN1_chr5_70920087_70958015 | 70954870 | AAAAAAAA others(26): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 |
3 | 36 | 0.0833 | -33 | c.*24 others(44): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1856 | chr5 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69980093 | GTTTACAG others(26): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0192 |
2 | 268 | 0.0075 | -33 | c.526 others(50): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54188266 | GAAATAAT others(26): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 347 | 0.0029 | -33 | c.-10 others(50): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063240 | TTTATATA others(26): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0040 | a0001c0001t0029g0104 a0001c0001t0040g0210 |
2 | 261 | 0.0077 | -33 | c.56- others(48): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SNAP29_chr22_20854007_20896214 | 20874317 | GACACACA others(26): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0271 | 1 | 290 | 0.0034 | -33 | c.434 others(50): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37559064 | GGAACAGT others(26): Show |
G | upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 392 | 0.0026 | -33 | c.-48 others(44): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4772 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1167623 | CAAGCCGC others(26): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(29): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0005others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(29): Show |
32 | 181 | 0.1768 | -33 | c.499 others(50): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1168189 | TGCCCACA others(26): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0005others(4): Show | a0001c0001t0001a0002c0003t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(31): Show |
34 | 175 | 0.1943 | -33 | c.499 others(50): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |