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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPINT2_chr19_38259573_38297615 | 38289484 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 130 | 0.0077 | 26 | c.391 others(41): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45725013 | T | TATATACA others(19): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 237 | 0.0042 | 26 | c.294 others(41): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12526056 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0188 others(9): Show |
12 | 20 | 0.6000 | 26 | c.729 others(43): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 138 | 0.0072 | 26 | c.372 others(45): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 138 | 0.0072 | 26 | c.372 others(45): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0018 | 1 | 138 | 0.0072 | 26 | c.372 others(45): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0197 | 1 | 138 | 0.0072 | 26 | c.372 others(45): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0004 | 1 | 138 | 0.0072 | 26 | c.372 others(45): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89869045 | A | AACATATA others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0264 | 1 | 322 | 0.0031 | 26 | c.180 others(43): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 30 | 0.0333 | 26 | c.180 others(43): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4494974 | T | TAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0026 others(34): Show |
39 | 80 | 0.4875 | 26 | c.-40 others(37): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 3906 | chr17 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4512636 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0028 | a0001c0001t0007g0178 a0001c0001t0028g0179 |
2 | 402 | 0.0050 | 26 | c.371 others(41): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 35 | 0.0286 | 26 | c.-12 others(37): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0023 | a0023c0019 | a0023c0019t0001 | a0023c0019t0001g0204 | 1 | 35 | 0.0286 | 26 | c.-12 others(37): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 HG02976.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0166 others(3): Show |
6 | 40 | 0.1500 | 26 | c.-12 others(37): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131989 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 1 | 63 | 0.0159 | 26 | c.347 others(43): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131989 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0150 | 1 | 63 | 0.0159 | 26 | c.347 others(43): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356838 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 19 | 0.0526 | 26 | c.187 others(45): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356838 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0032 | a0001c0001t0001g0042 a0001c0001t0018g0009 a0001c0001t0032g0124 |
3 | 21 | 0.1429 | 26 | c.187 others(45): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356838 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01884.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0033a0001c0002t0002 | a0001c0001t0005g0098 a0001c0001t0033g0150 a0001c0002t0002g0128 |
3 | 21 | 0.1429 | 26 | c.187 others(45): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356838 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015 | a0001c0001t0012g0151 a0001c0001t0015g0099 |
2 | 20 | 0.1000 | 26 | c.187 others(45): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356838 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 19 | 0.0526 | 26 | c.187 others(45): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137356873 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0115 | 1 | 73 | 0.0137 | 26 | c.187 others(45): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137384576 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0002 | a0001c0001t0002g0120 a0002c0005t0002g0104 |
2 | 143 | 0.0140 | 26 | c.186 others(47): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166840771 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 38 | 0.0263 | 26 | c.589 others(45): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166847647 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0068 | 1 | 42 | 0.0238 | 26 | c.589 others(45): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166847663 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 140 | 0.0071 | 26 | c.589 others(45): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166860802 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0055 a0001c0001t0003g0108 a0001c0001t0004g0072 others(1): Show |
4 | 49 | 0.0816 | 26 | c.589 others(45): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167108992 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0142 |
2 | 97 | 0.0206 | 26 | c.190 others(45): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14160431 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03834.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0167 a0001c0004t0001g0080 |
2 | 181 | 0.0110 | 26 | c.825 others(45): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03471.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0026 a0001c0004t0001g0110 |
2 | 68 | 0.0294 | 26 | c.*69 others(37): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | |||||||
SPOP_chr17_49593884_49683097 | 49665649 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG03942.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 a0001c0001t0006g0024 |
2 | 28 | 0.0714 | 26 | c.-67 others(45): Show |
SPOP | ENSG00000121067.19 | transcript | ENST00000504102.6 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
SPOUT1_chr9_128814651_128834794 | 128820809 | A | AAAACGTC others(19): Show |
3_prime_UTR_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0083 | 1 | 408 | 0.0025 | 26 | c.*19 others(37): Show |
SPOUT1 | ENSG00000198917.13 | transcript | ENST00000361256.10 | protein_coding | 12/12 | 1955 | chr9 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120825981 | G | GAGAGAAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0024others(1): Show | a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 others(42): Show |
45 | 318 | 0.1415 | 26 | c.24- others(43): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120830580 | G | GGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02165.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0018 | a0001c0001t0002g0261 a0001c0001t0003g0275 a0001c0001t0003g0281 others(4): Show |
7 | 38 | 0.1842 | 26 | c.24- others(43): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38310153 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02027.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0043 | a0001c0001t0002g0227 a0001c0001t0002g0282 a0001c0001t0002g0295 others(3): Show |
6 | 25 | 0.2400 | 26 | c.207 others(45): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38360847 | A | ATTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0315 | 1 | 21 | 0.0476 | 26 | c.*91 others(37): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 3599 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65338272 | C | CTCTCCCT others(19): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 262 | 0.0038 | 26 | c.205 others(43): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SPRED3_chr19_38383697_38404587 | 38397903 | T | TAAAAAAA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0025 | 1 | 251 | 0.0040 | 26 | c.*17 others(37): Show |
SPRED3 | ENSG00000188766.13 | transcript | ENST00000691638.1 | protein_coding | 6/6 | 1774 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPRR1A_chr1_152979081_152990814 | 152979857 | T | TCTCTCTC others(19): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 260 | 0.0077 | 26 | c.-42 others(37): Show |
SPRR1A | ENSG00000169474.5 | transcript | ENST00000368762.2 | protein_coding | 4223 | chr1 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155616100 | G | GTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0075a0001c0001t0094 | a0001c0001t0075g0116 a0001c0001t0094g0115 |
2 | 201 | 0.0100 | 26 | c.-28 others(45): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRYD7_chr13_49907702_49941340 | 49940522 | T | TGTCAGAT others(19): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 378 | 0.0026 | 26 | c.-42 others(37): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 4183 | chr13 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54495679 | T | TTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02698.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0007 | a0001c0002t0001g0103 a0001c0009t0007g0285 a0001c0009t0007g0286 |
3 | 302 | 0.0099 | 26 | c.-47 others(45): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522645 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0016 | 1 | 368 | 0.0027 | 26 | c.-47 others(43): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54522697 | G | GAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0076 | 1 | 136 | 0.0074 | 26 | c.-47 others(43): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522697 | G | GAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02083.hp1 HG02083.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0082 a0001c0001t0002g0338 a0001c0002t0001g0065 others(12): Show |
15 | 150 | 0.1000 | 26 | c.-47 others(43): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54576055 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0009 | a0001c0009t0045 | a0001c0009t0045g0298 | 1 | 129 | 0.0078 | 26 | c.149 others(45): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54610057 | T | TGTTGAGG others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(64): Show |
a0001a0007a0010 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(12): Show | a0001c0001t0004g0001 a0001c0001t0004g0091 a0001c0001t0004g0093 others(64): Show |
67 | 368 | 0.1821 | 26 | c.301 others(43): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64751927 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0012 | a0012c0025 | a0012c0025t0008 | a0012c0025t0008g0119 | 1 | 151 | 0.0066 | 26 | c.660 others(45): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 33/35 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77529620 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02071.hp2 HG03239.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0044 | a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0082 others(5): Show |
8 | 33 | 0.2424 | 26 | c.130 others(45): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar |