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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPEF2_chr5_35612863_35819611 | 35797317 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0184 | 1 | 45 | 0.0222 | -18 | c.483 others(37): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44633324 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18977.hp2 NA19043.hp1 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0110 a0008c0007t0001g0150 |
2 | 28 | 0.0714 | -18 | c.173 others(35): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 8/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44641586 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0024 | a0024c0026 | a0024c0026t0001 | a0024c0026t0001g0157 | 1 | 46 | 0.0217 | -18 | c.160 others(37): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89531772 | GTTTGAGG others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02300.hp1 HG02735.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0021 others(1): Show |
4 | 356 | 0.0112 | -18 | c.988 others(33): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89536451 | CGGTGAGG others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 318 | 0.0031 | -18 | c.132 others(37): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89545588 | CTTCTCCA others(11): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0306 | 1 | 356 | 0.0028 | -18 | c.144 others(35): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPHKAP_chr2_227974955_228186687 | 228113603 | ATCTCTCT others(11): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 a0001c0001t0002g0298 |
2 | 21 | 0.0952 | -18 | c.139 others(35): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47368343 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03490.hp2 HG03704.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0002 | a0001c0001t0001g0051 a0001c0001t0001g0098 a0001c0001t0001g0162 others(8): Show |
11 | 29 | 0.3793 | -18 | 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 | 47386902 | GAGATATA others(11): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 186 | 0.0054 | -18 | c.526 others(35): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47464113 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01074.hp2 others(34): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0162 a0001c0001t0002g0016 others(34): Show |
37 | 63 | 0.5873 | -18 | 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 | 47582827 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 66 | 0.0152 | -18 | 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 | 47588026 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02486.hp2 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0091 a0001c0001t0001g0184 a0001c0001t0002g0157 others(1): Show |
4 | 42 | 0.0952 | -18 | c.109 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47640841 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02129.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0195 a0001c0001t0002g0040 a0001c0001t0002g0126 others(1): Show |
4 | 6 | 0.6667 | -18 | c.154 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47658544 | CTGTTGTT others(11): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 42 | 0.0238 | -18 | c.154 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702080 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00621.hp1 others(29): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(1): Show | a0001c0001t0001g0127 a0001c0001t0001g0162 a0001c0001t0001g0164 others(29): Show |
32 | 214 | 0.1495 | -18 | c.197 others(33): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | chr8 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47702081 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 209 | 0.0048 | -18 | c.197 others(33): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702085 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG03654.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0110 a0001c0001t0001g0114 |
3 | 169 | 0.0178 | -18 | c.197 others(33): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702087 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG02015.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0085 |
2 | 209 | 0.0096 | -18 | c.197 others(33): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148063399 | CCTGCTCC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02976.hp1 |
a0003a0006 | a0003c0018a0006c0006 | a0003c0018t0002a0006c0006t0002 | a0003c0018t0002g0089 a0006c0006t0002g0014 |
3 | 382 | 0.0079 | -18 | c.-64 others(27): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 580 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148068564 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02723.hp1 others(3): Show |
a0007a0009 | a0007c0008a0009c0010 | a0007c0008t0005a0009c0010t0004 | a0007c0008t0005g0148 a0009c0010t0004g0018 a0009c0010t0004g0146 others(2): Show |
6 | 382 | 0.0157 | -18 | c.82- others(33): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148071968 | ATATTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01168.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0114 | 1 | 382 | 0.0026 | -18 | c.210 others(33): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 3/32 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148123511 | CAATATAT others(11): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0177 | 1 | 251 | 0.0040 | -18 | c.253 others(35): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | chr5 | TogoVar | |||||||
SPINK6_chr5_148198042_148220137 | 148210146 | GTATGTAT others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0043 others(12): Show |
24 | 413 | 0.0581 | -18 | c.82- others(33): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT2_chr19_38259573_38297615 | 38259633 | ATATATAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 395 | 0.0025 | -18 | c.-52 others(29): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4939 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38259639 | ATTTTTTT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0236 |
2 | 205 | 0.0098 | -18 | c.-52 others(29): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4933 | chr19 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12579186 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0265 a0001c0002t0003g0268 a0001c0002t0010g0264 |
3 | 284 | 0.0106 | -18 | c.373 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12597157 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01261.hp2 others(45): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0006a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(45): Show |
48 | 76 | 0.6316 | -18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4463676 | TTGCAGTG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(10): Show |
a0001a0005 | a0001c0003a0001c0009a0001c0024others(3): Show | a0001c0003t0001a0001c0009t0001a0001c0009t0002others(4): Show | a0001c0003t0001g0132 a0001c0003t0001g0152 a0001c0003t0001g0239 others(10): Show |
13 | 360 | 0.0361 | -18 | 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 | 137292426 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 4 | 0.2500 | -18 | c.187 others(37): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356797 | TAATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG02257.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0012g0102 |
3 | 148 | 0.0203 | -18 | c.187 others(37): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356824 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0070 | 1 | 152 | 0.0066 | -18 | c.187 others(37): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137449886 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG06807.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0010 | a0001c0001t0003g0016 a0001c0001t0009g0089 a0001c0001t0010g0015 |
3 | 54 | 0.0556 | -18 | c.186 others(37): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK2_chr10_72054034_72093551 | 72056635 | GAATAATA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0015a0001c0002t0015a0001c0017t0015 | a0001c0001t0015g0095 a0001c0002t0015g0067 a0001c0017t0015g0100 |
3 | 98 | 0.0306 | -18 | c.*61 others(29): Show |
SPOCK2 | ENSG00000107742.14 | transcript | ENST00000373109.7 | protein_coding | 2398 | chr10 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166740513 | TATTATTA others(11): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01109.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0019 others(15): Show |
18 | 142 | 0.1268 | -18 | c.994 others(35): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166752565 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01943.hp1 HG02004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0027 a0001c0001t0004g0028 a0001c0001t0004g0036 others(2): Show |
5 | 122 | 0.0410 | -18 | c.931 others(35): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166752567 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(9): Show | a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0016 others(42): Show |
45 | 109 | 0.4128 | -18 | c.931 others(35): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166844691 | TAGATATA others(11): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 142 | 0.0070 | -18 | c.589 others(37): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166844702 | ATCTATAC others(11): Show |
A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 142 | 0.0070 | -18 | c.589 others(37): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167116850 | TATATACT others(11): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0081 | 1 | 142 | 0.0070 | -18 | c.190 others(37): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205288 | TTTATATC others(11): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0002 | a0001c0001t0003g0076 a0001c0001t0005g0037 a0001c0002t0002g0075 |
3 | 142 | 0.0211 | -18 | c.189 others(37): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOPL_chr2_138496770_138578547 | 138567372 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02630.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0150 a0001c0001t0004g0229 a0001c0001t0004g0234 others(3): Show |
6 | 22 | 0.2727 | -18 | c.103 others(37): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOUT1_chr9_128814651_128834794 | 128830632 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp1 others(82): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0003c0010others(1): Show | a0002c0002t0002a0002c0002t0030a0002c0002t0034others(9): Show | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0015 others(22): Show |
85 | 89 | 0.9551 | -18 | c.-87 others(27): Show |
SPOUT1 | ENSG00000198917.13 | transcript | ENST00000361256.10 | protein_coding | 839 | chr9 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50698903 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0004 | a0004c0005 | a0004c0005t0032 | a0004c0005t0032g0233 | 1 | 36 | 0.0278 | -18 | c.*88 others(29): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 3362 | chr15 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2326312 | TTGTGTGT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp2 HG02258.hp2 |
a0002 | a0002c0007a0002c0008 | a0002c0007t0003a0002c0008t0003 | a0002c0007t0003g0161 a0002c0008t0003g0041 |
2 | 41 | 0.0488 | -18 | c.-23 others(29): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 2371 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2334049 | TCTGGGCC others(11): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0119 | 1 | 412 | 0.0024 | -18 | c.67- others(31): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120766098 | GCGCACAC others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0222 a0001c0001t0002g0226 others(84): Show |
88 | 196 | 0.4490 | -18 | c.108 others(35): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120766100 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0031 | a0001c0001t0004g0126 a0001c0001t0031g0219 |
2 | 187 | 0.0107 | -18 | c.108 others(35): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120781555 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0066 a0001c0001t0008g0070 a0001c0001t0008g0113 others(3): Show |
6 | 8 | 0.7500 | -18 | c.502 others(35): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38251697 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02258.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0302 a0001c0001t0001g0364 others(1): Show |
4 | 56 | 0.0714 | -18 | c.-14 others(29): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1138 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65317513 | AAACAACA others(11): Show |
A | intron_variant | MODIFIER | HG03017.hp2 HG03239.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0094 a0001c0001t0003g0172 a0001c0001t0003g0201 others(2): Show |
5 | 88 | 0.0568 | -18 | c.439 others(33): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar |