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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLCO3A1_chr15_91848708_92170903 | 92016254 | T | TAGATAGA others(44): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 1 | 96 | 0.0104 | 51 | c.647 others(70): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92047630 | A | AAATATAT others(44): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0046 a0001c0001t0006g0165 a0001c0001t0008g0106 others(2): Show |
5 | 182 | 0.0275 | 51 | c.647 others(70): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 169079819 | A | AGGAGGGA others(44): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01109.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0003t0016a0001c0007t0001others(8): Show | a0001c0001t0001g0041 a0001c0003t0016g0050 a0001c0007t0001g0040 others(8): Show |
11 | 13 | 0.8462 | 51 | c.413 others(72): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44953435 | G | GGCACCAT others(44): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18973.hp2 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 |
3 | 200 | 0.0150 | 51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44953435 | G | GGCACCAT others(44): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0118 | 1 | 198 | 0.0051 | 51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44953435 | G | GGCACCAT others(44): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0049 a0001c0001t0001g0132 a0001c0001t0001g0136 others(13): Show |
17 | 214 | 0.0794 | 51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44953435 | G | GGCACCAT others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01884.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0141 others(4): Show |
9 | 206 | 0.0437 | 51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44953435 | G | GGCACCAT others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0019 others(71): Show |
104 | 301 | 0.3455 | 51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44953435 | G | GGCACCAT others(44): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 198 | 0.0051 | 51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44953498 | G | GGCGGTGG others(44): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 332 | 0.0030 | 51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592650 | G | GCCGAGCT others(44): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG01884.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0115 others(29): Show |
32 | 141 | 0.2270 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592736 | A | ATCTTTCT others(44): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 178 | 0.0056 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592803 | T | TCCGAGCT others(44): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG01884.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0115 others(30): Show |
33 | 155 | 0.2129 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592841 | T | TTTCTAGA others(44): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 178 | 0.0056 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592907 | C | CGAGCTCC others(44): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01256.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0083 others(11): Show |
14 | 124 | 0.1129 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592907 | C | CGAGCTCC others(44): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03209.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0002a0001c0011t0006 | a0001c0002t0002g0043 a0001c0011t0006g0167 |
2 | 112 | 0.0179 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593313 | G | GCCGAGCT others(44): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 164 | 0.0061 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593402 | T | GTTCTAGA others(44): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 176 | 0.0057 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168593415 | T | GCCGAGCT others(44): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02135.hp1 HG04184.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(3): Show |
6 | 141 | 0.0426 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168593415 | T | TCCGAGCT others(44): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 136 | 0.0074 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593466 | G | TCCGAGCT others(44): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0163 | 1 | 165 | 0.0061 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168593519 | C | CGAGCTCC others(44): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01496.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0096 a0001c0001t0001g0157 a0001c0002t0002g0007 others(3): Show |
6 | 171 | 0.0351 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593619 | G | GCCGAGCT others(44): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01256.hp1 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 others(46): Show |
49 | 158 | 0.3101 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593720 | C | CGCCGAGC others(44): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 172 | 0.0058 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168593822 | G | GGCCGAGC others(44): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02559.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0142 a0001c0001t0003g0169 a0001c0002t0002g0034 others(2): Show |
5 | 67 | 0.0746 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594183 | T | TCCGAGCT others(44): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18971.hp2 NA18990.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0092 a0001c0001t0001g0143 a0001c0001t0001g0144 others(1): Show |
4 | 137 | 0.0292 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594376 | C | CATCTTTC others(44): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0168 a0001c0001t0015g0163 |
2 | 172 | 0.0116 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594629 | A | AGCATCTT others(44): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0163 | 1 | 100 | 0.0100 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594648 | G | GCCGAGCT others(44): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0114 |
2 | 153 | 0.0131 | 51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61762420 | A | AGAGGCGT others(44): Show |
5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(55): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(48): Show |
58 | 274 | 0.2117 | 51 | c.-6_ others(56): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 1/10 | 5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SNED1_chr2_240993618_241100568 | 241036053 | T | TGCGTCAC others(44): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 92 | 0.0109 | 51 | c.806 others(66): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241036053 | T | TGCGTCAC others(44): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02135.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0009a0003c0004t0007 | a0001c0002t0009g0211 a0003c0004t0007g0006 |
2 | 93 | 0.0215 | 51 | c.806 others(66): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241036065 | T | TGGGGGTT others(44): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19082.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0048a0001c0006t0001 | a0001c0002t0048g0191 a0001c0006t0001g0258 |
2 | 340 | 0.0059 | 51 | c.806 others(66): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37535240 | A | ATATATAT others(44): Show |
3_prime_UTR_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0164 | 1 | 391 | 0.0026 | 51 | c.*25 others(62): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2507 | chr1 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0025 | 1 | 34 | 0.0294 | 51 | c.-10 others(72): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221697 | T | TGTCTCTC others(44): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0150 | 1 | 46 | 0.0217 | 51 | c.719 others(70): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SNX29_chr16_11971734_12579287 | 12476383 | A | AAAAATAT others(44): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0004 | a0001c0004t0093 | a0001c0004t0093g0151 | 1 | 117 | 0.0085 | 51 | c.203 others(70): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX5_chr20_17936600_17973794 | 17962611 | T | TAAAGACT others(44): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18963.hp2 NA18965.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 a0001c0001t0003g0226 a0001c0001t0003g0229 others(6): Show |
10 | 347 | 0.0288 | 51 | c.52- others(66): Show |
SNX5 | ENSG00000089006.17 | transcript | ENST00000377759.9 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0267 | 1 | 191 | 0.0052 | 51 | c.949 others(68): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0263 | 1 | 191 | 0.0052 | 51 | c.949 others(68): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35906568 | G | GCCACACC others(44): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0001 |
2 | 398 | 0.0050 | 51 | c.-33 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2921 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906568 | G | GCCACACC others(44): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 398 | 0.0050 | 51 | c.-33 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2921 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906586 | T | TCCACCAC others(44): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 305 | 0.0033 | 51 | c.-32 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2903 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906589 | A | ACCACCAC others(44): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA18960.hp2 NA18974.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 385 | 0.0182 | 51 | c.-32 others(62): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2900 | chr9 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24189730 | A | ATTATATA others(44): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03688.hp2 NA19001.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0002a0001c0001t0006a0004c0011t0007others(1): Show | a0001c0001t0002g0080 a0001c0001t0006g0321 a0004c0011t0007g0180 others(1): Show |
4 | 332 | 0.0120 | 51 | c.-11 others(72): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547838 | A | AAAGAAAG others(44): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 164 | 0.0061 | 51 | c.-38 others(62): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3387 | chr7 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137160624 | T | TTATATAA others(44): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 48 | 0.0208 | 51 | c.233 others(70): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAAAA others(44): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0214 | 1 | 67 | 0.0149 | 51 | c.*69 others(62): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2347176 | A | ACACACTC others(44): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0177 | 1 | 411 | 0.0024 | 51 | c.135 others(70): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2348213 | A | AGACTCAT others(44): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01928.hp2 others(8): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0013a0001c0010t0010 | a0001c0002t0001g0007 a0001c0002t0001g0079 a0001c0002t0013g0007 others(3): Show |
11 | 317 | 0.0347 | 51 | c.135 others(70): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | chr19 | TogoVar |