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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPECC1_chr17_20004359_20324026 | 20019207 | CATTCATT others(13): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(18): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0005 | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(6): Show | a0001c0003t0007g0056 a0001c0003t0007g0059 a0001c0003t0007g0062 others(18): Show |
21 | 103 | 0.2039 | -20 | c.-22 others(37): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051068 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01516.hp1 HG01517.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0082others(6): Show | a0001c0001t0002g0105 a0001c0001t0004g0142 a0001c0001t0004g0143 others(7): Show |
10 | 123 | 0.0813 | -20 | c.-22 others(39): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051121 | TTTCTTTC others(13): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0183 | 1 | 247 | 0.0040 | -20 | c.-22 others(39): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20116803 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | NA18986.hp2 | a0004 | a0004c0005 | a0004c0005t0047 | a0004c0005t0047g0202 | 1 | 106 | 0.0094 | -20 | c.283 others(37): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35661254 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(70): Show |
a0002a0003a0004others(12): Show | a0002c0001a0002c0041a0003c0004others(15): Show | a0002c0001t0001a0002c0041t0001a0003c0004t0001others(15): Show | a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 others(69): Show |
73 | 97 | 0.7526 | -20 | c.116 others(39): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35777664 | CAAATAAA others(13): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0154 | 1 | 60 | 0.0167 | -20 | c.421 others(39): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219431548 | TTTCCTTC others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02809.hp1 |
a0001a0018a0022 | a0001c0002a0018c0071a0022c0060 | a0001c0002t0001a0018c0071t0001a0022c0060t0001 | a0001c0002t0001g0121 a0018c0071t0001g0025 a0022c0060t0001g0198 |
3 | 9 | 0.3333 | -20 | c.-34 others(31): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 3294 | chr2 | TogoVar | |||||||
SPEG_chr2_219429843_219498629 | 219440561 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
a0001a0002a0008others(5): Show | a0001c0002a0002c0003a0008c0013others(5): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0002others(7): Show | a0001c0002t0001g0015 a0001c0002t0001g0106 a0001c0002t0001g0194 others(9): Show |
13 | 125 | 0.1040 | -20 | c.389 others(37): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEM1_chr17_7415324_7426632 | 7424547 | TTTCCTTC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0002c0002t0001g0001 |
6 | 89 | 0.0674 | -20 | c.*29 others(31): Show |
SPEM1 | ENSG00000181323.8 | transcript | ENST00000323675.4 | protein_coding | 2916 | chr17 | TogoVar | |||||||
SPEM2_chr17_7420616_7432568 | 7424547 | TTTCCTTC others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG03098.hp1 HG03688.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001 a0002c0002t0001g0001 a0003c0003t0001g0001 |
5 | 86 | 0.0581 | -20 | c.-11 others(31): Show |
SPEM2 | ENSG00000184560.8 | transcript | ENST00000333870.8 | protein_coding | 1068 | chr17 | TogoVar | |||||||
SPEM3_chr17_7423857_7437820 | 7424547 | TTTCCTTC others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG03098.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001 a0002c0002t0001g0001 a0003c0003t0001g0001 |
6 | 83 | 0.0723 | -20 | c.-43 others(31): Show |
SPEM3 | ENSG00000283439.4 | transcript | ENST00000636696.4 | protein_coding | 4309 | chr17 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44633324 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 27 | 0.0370 | -20 | c.173 others(37): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 8/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44633343 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 a0002c0002t0001g0030 |
2 | 188 | 0.0106 | -20 | c.173 others(37): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 8/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44636938 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 179 | 0.0056 | -20 | c.160 others(39): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228063158 | ATCTATCT others(13): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0014 | a0014c0023 | a0014c0023t0008 | a0014c0023t0008g0223 | 1 | 319 | 0.0031 | -20 | c.247 others(39): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228080707 | CAAAATAA others(13): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02071.hp1 HG02129.hp1 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0003others(1): Show | a0001c0001t0002a0003c0005t0006a0004c0003t0001others(2): Show | a0001c0001t0002g0114 a0001c0001t0002g0224 a0003c0005t0006g0108 others(8): Show |
11 | 27 | 0.4074 | -20 | c.246 others(39): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228080768 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02486.hp1 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0001 | a0001c0001t0002g0261 a0003c0006t0001g0061 |
2 | 320 | 0.0063 | -20 | c.246 others(39): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228133306 | CAAATAAA others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(119): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0005others(13): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(22): Show | a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0034 others(119): Show |
122 | 165 | 0.7394 | -20 | c.33- others(35): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPIB_chr19_50413938_50436314 | 50436170 | CCGTGGGC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0158 | 1 | 386 | 0.0026 | -20 | c.*78 others(31): Show |
SPIB | ENSG00000269404.7 | transcript | ENST00000595883.6 | protein_coding | 4857 | chr19 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47277313 | TTGTTATG others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01109.hp1 others(27): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0006a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0005c0006t0002others(2): Show | a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0165 others(27): Show |
30 | 57 | 0.5263 | -20 | c.34- others(35): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47368343 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0183 |
2 | 20 | 0.1000 | -20 | c.526 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47393673 | TTTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01255.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0026 a0001c0001t0001g0083 a0001c0001t0002g0143 others(5): Show |
8 | 50 | 0.1600 | -20 | c.526 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47458323 | GTATTTTA others(13): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0002 |
2 | 56 | 0.0357 | -20 | c.109 others(41): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47464113 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02886.hp2 |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0002a0002c0002t0005a0008c0008t0002 | a0002c0002t0002g0018 a0002c0002t0005g0022 a0008c0008t0002g0019 |
3 | 29 | 0.1034 | -20 | c.109 others(41): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47588026 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0004g0210 |
3 | 41 | 0.0732 | -20 | c.109 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702078 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 214 | 0.0047 | -20 | c.197 others(35): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | chr8 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47702079 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 213 | 0.0047 | -20 | c.197 others(35): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702083 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 214 | 0.0047 | -20 | c.197 others(35): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702085 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(40): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0009c0010t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(40): Show |
43 | 209 | 0.2057 | -20 | c.197 others(35): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702087 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0117 |
2 | 209 | 0.0096 | -20 | c.197 others(35): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47735095 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0187 |
3 | 208 | 0.0144 | -20 | c.260 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPINK2_chr4_56804861_56826701 | 56825393 | TGTCACCC others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 426 | 0.0023 | -20 | c.-37 others(31): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 3693 | chr4 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38259639 | ATTTTTTT others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 204 | 0.0049 | -20 | c.-52 others(31): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4933 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38266530 | GCTGGGCA others(13): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 398 | 0.0025 | -20 | c.106 others(37): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12597157 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0001g0252 a0001c0001t0003g0276 a0001c0001t0003g0277 others(41): Show |
44 | 72 | 0.6111 | -20 | c.372 others(39): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89856057 | CGCTTCCC others(13): Show |
C | intron_variant | MODIFIER | HG03139.hp1 NA18954.hp1 NA21309.hp2 |
a0001a0007 | a0001c0001a0001c0019a0007c0010 | a0001c0001t0001a0001c0019t0001a0007c0010t0001 | a0001c0001t0001g0063 a0001c0019t0001g0316 a0007c0010t0001g0313 |
3 | 354 | 0.0085 | -20 | c.979 others(33): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4532140 | ATCCATCT others(13): Show |
A | intron_variant | MODIFIER | HG01361.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0059 a0001c0001t0006g0033 |
2 | 402 | 0.0050 | -20 | c.793 others(35): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4458588 | CCTTTCTT others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0002a0001c0009t0001 | a0001c0003t0001g0121 a0001c0003t0001g0318 a0001c0003t0002g0112 others(1): Show |
4 | 182 | 0.0220 | -20 | c.111 others(39): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137134502 | GAGCTTAA others(13): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0080 | 1 | 152 | 0.0066 | -20 | c.347 others(37): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137292426 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 4 | 0.2500 | -20 | c.187 others(39): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166742230 | CTATCATC others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01109.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0005a0001c0004t0003others(1): Show | a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0019 others(17): Show |
20 | 123 | 0.1626 | -20 | c.932 others(35): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166752565 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0003a0001c0004t0003a0001c0005t0003others(1): Show | a0001c0001t0003g0061 a0001c0004t0003g0008 a0001c0005t0003g0005 others(1): Show |
4 | 121 | 0.0331 | -20 | c.931 others(37): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166752567 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01109.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(3): Show | a0001c0001t0001g0142 a0001c0001t0003g0012 a0001c0001t0003g0017 others(22): Show |
25 | 89 | 0.2809 | -20 | c.931 others(37): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166847662 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG03225.hp1 HG03471.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0005a0001c0004t0003a0001c0007t0002 | a0001c0001t0005g0103 a0001c0004t0003g0007 a0001c0007t0002g0041 |
3 | 142 | 0.0211 | -20 | c.589 others(39): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166899242 | ATATCTAT others(13): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 99 | 0.0101 | -20 | c.475 others(38): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14095404 | CTAGATAG others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG02056.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0001g0150 others(25): Show |
28 | 127 | 0.2205 | -20 | c.676 others(39): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14160955 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG04184.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0132 a0001c0004t0001g0083 |
2 | 216 | 0.0093 | -20 | c.825 others(39): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14161191 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0218 | 1 | 143 | 0.0070 | -20 | c.825 others(39): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14178045 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0028 a0001c0003t0001g0101 |
2 | 101 | 0.0198 | -20 | c.825 others(39): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPPL2A_chr15_50697266_50770706 | 50703342 | ATATACAT others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0247 | 1 | 332 | 0.0030 | -20 | c.*44 others(31): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 15/15 | 4438 | chr15 | TogoVar |