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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIDR_chr8_47255938_47741306 | 47740915 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(8): Show |
11 | 216 | 0.0509 | -12 | c.*54 others(23): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 4610 | chr8 | TogoVar | |||||||
SPIN1_chr9_88383444_88483694 | 88404915 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(61): Show |
64 | 176 | 0.3636 | -12 | c.-15 others(33): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88405997 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0006 | a0001c0001t0002g0065 a0001c0001t0002g0164 a0001c0001t0002g0167 others(3): Show |
6 | 176 | 0.0341 | -12 | c.-15 others(33): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88436754 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0006 | a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 others(2): Show |
5 | 176 | 0.0284 | -12 | c.52+ others(29): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88445518 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01891.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0079 a0001c0001t0001g0137 a0001c0001t0002g0003 others(6): Show |
9 | 176 | 0.0511 | -12 | c.53- others(27): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88457248 | CAAAGAAA others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0081 | 1 | 176 | 0.0057 | -12 | c.102 others(29): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88475047 | CTTTTTTT others(5): Show |
C | splice_region_variant others(1): Show |
LOW | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0174 | 1 | 176 | 0.0057 | -12 | c.590 others(24): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN4_chrX_63342228_63356332 | 63356012 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 298 | 0.0034 | -12 | c.-52 others(23): Show |
SPIN4 | ENSG00000186767.7 | transcript | ENST00000374884.3 | protein_coding | 4681 | chrX | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63832007 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 392 | 0.0026 | -12 | c.*48 others(23): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 4292 | chr11 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148068574 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0317 | 1 | 384 | 0.0026 | -12 | c.82- others(27): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148073814 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03098.hp2 HG03195.hp1 others(2): Show |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0002a0007c0008t0005 | a0003c0003t0002g0108 a0007c0008t0005g0138 a0007c0008t0005g0139 others(2): Show |
5 | 384 | 0.0130 | -12 | c.282 others(29): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148105623 | CTGTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02572.hp1 others(13): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0009 a0005c0005t0002g0327 a0005c0005t0002g0328 others(11): Show |
16 | 384 | 0.0417 | -12 | c.147 others(29): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 16/32 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148123511 | CAATATAT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0162 | 1 | 384 | 0.0026 | -12 | c.253 others(29): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148126571 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(156): Show |
a0001a0006a0007others(8): Show | a0001c0001a0001c0024a0001c0039others(12): Show | a0001c0001t0001a0001c0024t0001a0001c0039t0001others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 others(142): Show |
159 | 384 | 0.4141 | -12 | c.286 others(29): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 29/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148213206 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(106): Show |
280 | 438 | 0.6393 | -12 | c.82- others(25): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT2_chr19_38259573_38297615 | 38259637 | ATATTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 400 | 0.0025 | -12 | c.-52 others(23): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4935 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38259639 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18939.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0150 |
2 | 400 | 0.0050 | -12 | c.-52 others(23): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4933 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38261263 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02071.hp1 NA18939.hp2 NA18979.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0150 others(1): Show |
4 | 400 | 0.0100 | -12 | c.-36 others(23): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 3309 | chr19 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12442931 | GTCTTTAA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0057 others(97): Show |
100 | 328 | 0.3049 | -12 | c.*66 others(23): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 3580 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12461594 | CATACACA others(5): Show |
C | intron_variant | MODIFIER | NA19002.hp1 NA19060.hp2 NA19088.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0320 a0001c0004t0003g0321 a0001c0004t0003g0322 |
3 | 328 | 0.0092 | -12 | c.163 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 12/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476554 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0055 others(6): Show |
9 | 328 | 0.0274 | -12 | c.140 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476556 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0070 a0001c0001t0016g0141 |
2 | 328 | 0.0061 | -12 | c.140 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476558 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0142 others(3): Show |
6 | 328 | 0.0183 | -12 | c.140 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476560 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0140 | 1 | 328 | 0.0031 | -12 | c.140 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476602 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0049 others(12): Show |
15 | 328 | 0.0457 | -12 | c.140 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12513489 | CTTTATTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0121 others(36): Show |
39 | 328 | 0.1189 | -12 | c.730 others(27): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12526056 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01261.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0064 others(50): Show |
53 | 328 | 0.1616 | -12 | c.729 others(29): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12576581 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03516.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show |
5 | 328 | 0.0152 | -12 | c.373 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12579188 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0007g0002 a0001c0001t0007g0006 a0001c0001t0007g0007 others(6): Show |
9 | 328 | 0.0274 | -12 | c.373 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12597157 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01515.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(16): Show |
19 | 328 | 0.0579 | -12 | c.372 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12607596 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0066 a0001c0001t0001g0091 a0001c0001t0001g0094 others(75): Show |
78 | 328 | 0.2378 | -12 | c.372 others(31): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89843294 | ACGGGAAG others(5): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 356 | 0.0028 | -12 | c.245 others(29): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89843673 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG03239.hp2 HG03669.hp2 HG03831.hp2 others(3): Show |
a0001 | a0001c0006a0001c0009a0001c0027 | a0001c0006t0001a0001c0009t0001a0001c0027t0001 | a0001c0006t0001g0012 a0001c0006t0001g0014 a0001c0006t0001g0016 others(3): Show |
6 | 356 | 0.0169 | -12 | c.245 others(29): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89875513 | GTTTTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02027.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0265 |
2 | 356 | 0.0056 | -12 | c.*52 others(23): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 4195 | chr16 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4540132 | CTGGGTCC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0260 | 1 | 404 | 0.0025 | -12 | c.*26 others(23): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1098 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4458576 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01256.hp2 others(15): Show |
a0001a0002a0009 | a0001c0001a0001c0010a0001c0013others(6): Show | a0001c0001t0001a0001c0010t0002a0001c0013t0001others(6): Show | a0001c0001t0001g0034 a0001c0010t0002g0081 a0001c0013t0001g0359 others(15): Show |
18 | 362 | 0.0497 | -12 | c.111 others(31): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4458588 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02135.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0044others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0109 a0001c0001t0002g0169 a0001c0001t0002g0328 others(6): Show |
9 | 362 | 0.0249 | -12 | c.111 others(31): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462728 | CCCATCCA others(5): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0021 | 1 | 362 | 0.0028 | -12 | c.111 others(31): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462754 | AATCCATC others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA21309.hp1 |
a0001 | a0001c0013a0001c0031 | a0001c0013t0001a0001c0031t0005 | a0001c0013t0001g0115 a0001c0031t0005g0036 |
2 | 362 | 0.0055 | -12 | c.111 others(31): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4472774 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0076 | 1 | 362 | 0.0028 | -12 | c.111 others(31): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPN_chr16_29658247_29675876 | 29666518 | TCTCTCTC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0001 | 1 | 394 | 0.0025 | -12 | c.*15 others(23): Show |
SPN | ENSG00000197471.12 | transcript | ENST00000652691.1 | protein_coding | 2/2 | 1589 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPOCK1_chr5_136970298_137504326 | 137008295 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0121 a0001c0002t0005g0129 a0001c0002t0005g0130 |
3 | 152 | 0.0197 | -12 | c.590 others(31): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137062525 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0013 a0001c0001t0007g0048 |
2 | 152 | 0.0132 | -12 | c.589 others(29): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137103591 | AGCCTTGG others(5): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 | 1 | 152 | 0.0066 | -12 | c.474 others(29): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137122245 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0002g0119 a0001c0002t0001g0050 a0001c0002t0005g0111 others(2): Show |
5 | 152 | 0.0329 | -12 | c.348 others(29): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137138492 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0002g0128 others(5): Show |
8 | 152 | 0.0526 | -12 | c.347 others(29): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137202286 | GGTTTGTC others(5): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 | 1 | 152 | 0.0066 | -12 | c.233 others(31): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137292426 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01496.hp1 HG01884.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0035 others(25): Show |
28 | 152 | 0.1842 | -12 | c.187 others(31): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137293089 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0091 a0001c0001t0002g0132 others(5): Show |
8 | 152 | 0.0526 | -12 | c.187 others(31): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137302579 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG02040.hp1 HG02109.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0002g0117 others(20): Show |
23 | 152 | 0.1513 | -12 | c.187 others(31): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar |