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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCTR_chr2_119434843_119529483 | 119510698 | C | CAAGAGCT others(310): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19030.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0005 | a0001c0001t0002g0170 a0003c0006t0005g0267 |
2 | 290 | 0.0069 | 317 | c.72+ others(334): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SENP5_chr3_196862920_196939714 | 196874213 | T | TAAAATGT others(310): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0143 | 1 | 306 | 0.0033 | 317 | c.-32 others(334): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119647958 | T | TTAATTTT others(310): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0212 a0001c0002t0005g0159 |
2 | 252 | 0.0079 | 317 | c.690 others(334): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(310): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00738.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0029 others(55): Show |
59 | 400 | 0.1475 | 317 | c.137 others(334): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(310): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0049 a0001c0001t0011g0050 a0001c0001t0011g0051 others(2): Show |
5 | 400 | 0.0125 | 317 | c.137 others(334): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14913806 | G | GCAGCACA others(310): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0083 | 1 | 102 | 0.0098 | 317 | c.39+ others(336): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15252819 | C | CAAAAGAC others(310): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0367 | 1 | 376 | 0.0027 | 317 | c.*32 others(328): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 1533 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15252826 | C | CAGGTTAC others(310): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02109.hp2 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0019others(1): Show | a0001c0001t0004g0003 a0001c0001t0004g0214 a0001c0001t0004g0333 others(10): Show |
14 | 376 | 0.0372 | 317 | c.*32 others(328): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 1526 | chr3 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111609102 | T | TTGCATTC others(310): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016 | a0001c0001t0010g0077 a0001c0001t0010g0078 a0001c0001t0010g0079 others(3): Show |
6 | 198 | 0.0303 | 317 | c.135 others(334): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116947184 | A | AATATATA others(310): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0018 | 1 | 366 | 0.0027 | 317 | c.454 others(334): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26715357 | G | GGATCTTT others(310): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0234 | 1 | 296 | 0.0034 | 317 | c.796 others(336): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77704003 | C | CATATGTT others(310): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(3): Show |
6 | 300 | 0.0200 | 317 | c.626 others(334): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC12A6_chr15_34224784_34342781 | 34313236 | A | AAGGAACA others(310): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | 274 | 0.0073 | 317 | c.271 others(336): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SLC14A2_chr18_45610476_45688688 | 45684227 | T | TAAGAATT others(310): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02965.hp1 |
a0001a0005 | a0001c0004a0005c0010 | a0001c0004t0017a0005c0010t0015 | a0001c0004t0017g0147 a0005c0010t0015g0015 a0005c0010t0015g0108 |
3 | 402 | 0.0075 | 317 | c.*17 others(328): Show |
SLC14A2 | ENSG00000132874.15 | transcript | ENST00000255226.11 | protein_coding | 540 | chr18 | TogoVar | |||||||
SLC22A9_chr11_63364785_63415294 | 63378230 | A | AGAAAAAA others(310): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0160 | 1 | 346 | 0.0029 | 317 | c.954 others(334): Show |
SLC22A9 | ENSG00000149742.10 | transcript | ENST00000279178.4 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC24A3_chr20_19207642_19727926 | 19466698 | T | TAAAAGGT others(310): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01884.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0002 | a0001c0003t0001a0001c0008t0003a0002c0002t0003others(1): Show | a0001c0003t0001g0058 a0001c0008t0003g0060 a0002c0002t0003g0124 others(1): Show |
4 | 160 | 0.0250 | 317 | c.272 others(336): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A16_chr10_68472998_68532523 | 68524362 | T | TAAAACTT others(310): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0299 | 1 | 312 | 0.0032 | 317 | c.130 others(334): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
SLC25A21_chr14_36672921_37177606 | 36789817 | A | ATTTATAT others(310): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02165.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0087 a0001c0002t0003g0093 |
2 | 164 | 0.0122 | 317 | c.203 others(336): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 3/9 | chr14 | TogoVar | |||||||
SLC30A9_chr4_41985530_42095461 | 42086023 | T | TAAAAAGA others(310): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01258.hp2 |
a0002 | a0002c0002a0002c0010 | a0002c0002t0002a0002c0010t0002 | a0002c0002t0002g0068 a0002c0010t0002g0107 |
2 | 164 | 0.0122 | 317 | c.166 others(332): Show |
SLC30A9 | ENSG00000014824.14 | transcript | ENST00000264451.12 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC30A9_chr4_41985530_42095461 | 42086023 | T | TAAAAAGA others(310): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01074.hp1 others(31): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0002a0002c0002t0008others(3): Show | a0001c0003t0002g0143 a0001c0003t0002g0144 a0002c0002t0002g0013 others(31): Show |
34 | 164 | 0.2073 | 317 | c.166 others(332): Show |
SLC30A9 | ENSG00000014824.14 | transcript | ENST00000264451.12 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC35A3_chr1_99964996_100040634 | 99997700 | T | TTGGACAT others(310): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0014 | 1 | 192 | 0.0052 | 317 | c.188 others(334): Show |
SLC35A3 | ENSG00000117620.15 | transcript | ENST00000533028.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 118071064 | G | GTGTATAT others(310): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 182 | 0.0055 | 317 | c.174 others(336): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F4_chr14_57558920_57871092 | 57641153 | A | AAGCCTTT others(310): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 218 | 0.0046 | 317 | c.104 others(336): Show |
SLC35F4 | ENSG00000151812.15 | transcript | ENST00000556826.6 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
SLC44A3_chr1_94815357_94900246 | 94877129 | T | TAAAAAAA others(310): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG01346.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0083 others(6): Show |
9 | 360 | 0.0250 | 317 | c.148 others(336): Show |
SLC44A3 | ENSG00000143036.17 | transcript | ENST00000271227.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40386533 | G | GAAAAAAG others(310): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0029 | 1 | 236 | 0.0042 | 317 | c.180 others(338): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47726328 | T | TAGAAAAC others(310): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 219 | 0.0046 | 317 | c.646 others(334): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 6/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47741369 | T | TAAAAATT others(310): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0115 | 1 | 219 | 0.0046 | 317 | c.402 others(334): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 3/27 | chr3 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129517322 | G | GAAAGTGG others(310): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | 317 | c.*48 others(328): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 4405 | chr7 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245826010 | T | TGCTGCTT others(310): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 NA18962.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0034 others(4): Show |
7 | 150 | 0.0467 | 317 | c.107 others(338): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83604252 | T | TAAAAAAG others(310): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show |
4 | 366 | 0.0109 | 317 | c.114 others(336): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83604252 | T | TAAAAAAG others(310): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 366 | 0.0027 | 317 | c.114 others(336): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69207954 | C | CAAAAATT others(310): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0037 | a0001c0002t0012g0202 a0001c0002t0012g0203 a0001c0002t0012g0205 others(2): Show |
5 | 218 | 0.0229 | 317 | c.580 others(336): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12198357 | T | TAAAAATG others(310): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0068a0001c0007t0002a0001c0007t0064 | a0001c0006t0068g0003 a0001c0007t0002g0004 a0001c0007t0064g0113 |
3 | 176 | 0.0171 | 317 | c.159 others(336): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SOCS4_chr14_55022236_55054489 | 55022704 | C | CAAAAAAC others(310): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014 | a0001c0001t0011g0064 a0001c0001t0011g0065 a0001c0001t0011g0066 others(2): Show |
5 | 394 | 0.0127 | 317 | c.-49 others(328): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 4531 | chr14 | TogoVar | |||||||
SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(310): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0252 a0001c0001t0004g0146 a0001c0001t0004g0147 others(1): Show |
4 | 380 | 0.0105 | 317 | c.-13 others(334): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38387650 | A | ATATATTG others(310): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 a0001c0001t0013g0013 |
2 | 289 | 0.0069 | 317 | c.168 others(336): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SOS1_chr2_38976549_39126051 | 39088183 | C | CATATCAG others(310): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 246 | 0.0041 | 317 | c.88- others(334): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39088183 | C | CATATCAG others(310): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(110): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0065 others(110): Show |
113 | 246 | 0.4594 | 317 | c.88- others(334): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39088183 | C | CATATCAG others(310): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0035 | 1 | 246 | 0.0041 | 317 | c.88- others(334): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39088183 | C | CATATCAG others(310): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02615.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0051 a0001c0001t0004g0005 a0001c0001t0004g0006 others(11): Show |
14 | 246 | 0.0569 | 317 | c.88- others(334): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39088183 | C | CATATCAG others(310): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0039 | 1 | 246 | 0.0041 | 317 | c.88- others(334): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217740158 | A | AGGCCTTT others(310): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 252 | 0.0040 | 317 | c.396 others(334): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPICE1_chr3_113437718_113520156 | 113484687 | T | TTTGAGTG others(310): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18991.hp1 NA19091.hp1 |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0009a0002c0003t0030 | a0002c0003t0005g0354 a0002c0003t0009g0351 a0002c0003t0030g0337 |
3 | 364 | 0.0082 | 317 | c.611 others(334): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47607924 | A | ATCTCTAT others(310): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 216 | 0.0046 | 317 | c.154 others(336): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852703 | G | GGCCCGTC others(310): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 356 | 0.0028 | 317 | c.646 others(334): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 35009343 | G | GCCACACA others(310): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 396 | 0.0025 | 317 | c.485 others(332): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 35009343 | G | GCCACACA others(310): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01070.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0189 others(29): Show |
32 | 396 | 0.0808 | 317 | c.485 others(332): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76050728 | G | GGGGAGTT others(310): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 2 | 365 | 0.0055 | 317 | c.979 others(332): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 8/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76050728 | G | GGGGAGTT others(310): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 a0001c0001t0002g0177 |
2 | 365 | 0.0055 | 317 | c.979 others(332): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 8/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76050728 | G | GGGGAGTT others(310): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(103): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0132 a0001c0001t0001g0156 a0001c0001t0001g0157 others(100): Show |
106 | 365 | 0.2904 | 317 | c.979 others(332): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 8/15 | chr17 | TogoVar |