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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPON1_chr11_13957723_14273133 | 14229951 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG03209.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0001 | a0001c0002t0003g0208 a0001c0002t0003g0215 a0001c0004t0001g0114 |
3 | 224 | 0.0134 | 8 | c.826 others(27): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14230764 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0001g0028 a0001c0001t0003g0217 a0001c0001t0015g0041 others(7): Show |
10 | 224 | 0.0446 | 8 | c.826 others(27): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14236801 | G | GTCAAATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp1 others(17): Show |
a0001 | a0001c0002a0001c0004a0001c0011 | a0001c0002t0001a0001c0002t0003a0001c0002t0009others(4): Show | a0001c0002t0001g0038 a0001c0002t0001g0064 a0001c0002t0001g0126 others(17): Show |
20 | 224 | 0.0893 | 8 | c.826 others(25): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14240589 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0059 others(10): Show |
13 | 224 | 0.0580 | 8 | c.826 others(25): 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(1): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 HG02165.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0058 a0001c0001t0004g0178 a0001c0001t0006g0029 others(2): Show |
5 | 224 | 0.0223 | 8 | c.*69 others(19): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | |||||||
SPOPL_chr2_138496770_138578547 | 138525662 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp1 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0035a0001c0001t0036others(3): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(73): Show |
80 | 372 | 0.2151 | 8 | c.-61 others(27): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOPL_chr2_138496770_138578547 | 138529535 | T | TGTGCGCG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0227 a0001c0001t0004g0228 others(2): Show |
6 | 372 | 0.0161 | 8 | c.-60 others(27): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
SPOPL_chr2_138496770_138578547 | 138530922 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03209.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0113 a0001c0001t0004g0228 a0001c0001t0011g0352 |
3 | 372 | 0.0081 | 8 | c.-60 others(27): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOPL_chr2_138496770_138578547 | 138550827 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01069.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0042 others(24): Show |
28 | 372 | 0.0753 | 8 | c.201 others(21): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOPL_chr2_138496770_138578547 | 138555131 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01168.hp1 HG01169.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0029 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0040 others(16): Show |
19 | 372 | 0.0511 | 8 | c.480 others(25): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOPL_chr2_138496770_138578547 | 138567372 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016 | a0001c0001t0001g0111 a0001c0001t0001g0201 a0001c0001t0001g0212 others(3): Show |
6 | 372 | 0.0161 | 8 | c.103 others(27): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOP_chr17_49593884_49683097 | 49614802 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01071.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0007g0003 a0001c0001t0007g0190 a0001c0001t0007g0199 others(18): Show |
22 | 390 | 0.0564 | 8 | c.481 others(25): Show |
SPOP | ENSG00000121067.19 | transcript | ENST00000504102.6 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SPOP_chr17_49593884_49683097 | 49624331 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01346.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0014 | a0001c0001t0003g0326 a0001c0001t0012g0294 a0001c0001t0014g0292 |
3 | 390 | 0.0077 | 8 | c.-66 others(25): Show |
SPOP | ENSG00000121067.19 | transcript | ENST00000504102.6 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
SPOP_chr17_49593884_49683097 | 49665649 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01261.hp2 HG02056.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0063 a0001c0001t0001g0192 a0001c0001t0001g0197 others(24): Show |
27 | 390 | 0.0692 | 8 | c.-67 others(27): Show |
SPOP | ENSG00000121067.19 | transcript | ENST00000504102.6 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50706389 | C | CAAAAAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02027.hp2 HG02056.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0129others(6): Show | a0001c0001t0014g0196 a0001c0001t0014g0206 a0001c0001t0014g0216 others(13): Show |
16 | 336 | 0.0476 | 8 | c.*14 others(19): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 15/15 | 1410 | chr15 | TogoVar | ||||||
SPPL2A_chr15_50697266_50770706 | 50731927 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00639.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(25): Show | a0001c0001t0003g0007 a0001c0001t0003g0257 a0001c0001t0003g0261 others(53): Show |
57 | 336 | 0.1696 | 8 | c.101 others(25): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 9/14 | chr15 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2326310 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03704.hp1 NA18954.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0019 | a0001c0001t0002g0043 a0001c0001t0002g0229 a0001c0001t0002g0256 others(5): Show |
9 | 414 | 0.0217 | 8 | c.-24 others(19): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 2373 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2326312 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(59): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0024 a0001c0001t0001g0108 a0001c0001t0001g0118 others(52): Show |
62 | 414 | 0.1498 | 8 | c.-23 others(19): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 2371 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2347397 | C | CTCCACAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG01884.hp1 others(37): Show |
a0001a0002a0009 | a0001c0001a0001c0010a0002c0005others(3): Show | a0001c0001t0003a0001c0001t0017a0001c0010t0006others(11): Show | a0001c0001t0003g0139 a0001c0001t0017g0314 a0001c0001t0017g0315 others(29): Show |
40 | 414 | 0.0966 | 8 | c.135 others(27): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2357533 | T | TATCCATC others(1): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01993.hp1 HG01993.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0002a0001c0002t0001a0001c0002t0014others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0288 others(10): Show |
16 | 414 | 0.0387 | 8 | c.*43 others(19): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 2439 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2357564 | C | CCATCCAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02280.hp2 others(9): Show |
a0002 | a0002c0005a0002c0011a0002c0034 | a0002c0005t0004a0002c0005t0007a0002c0011t0009others(1): Show | a0002c0005t0004g0006 a0002c0005t0004g0183 a0002c0005t0007g0033 others(6): Show |
12 | 414 | 0.0290 | 8 | c.*43 others(19): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 2470 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2359758 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0005 | a0001c0001t0002a0001c0019t0002a0002c0005t0004 | a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0220 others(12): Show |
19 | 414 | 0.0459 | 8 | c.*65 others(19): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 4664 | chr19 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120766098 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02165.hp2 NA18747.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0026 a0001c0001t0002g0041 a0001c0001t0002g0042 others(4): Show |
7 | 320 | 0.0219 | 8 | c.108 others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120830580 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01243.hp1 HG01243.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(3): Show | a0001c0001t0001g0254 a0001c0001t0002g0021 a0001c0001t0002g0034 others(11): Show |
14 | 320 | 0.0438 | 8 | c.24- others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120845858 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02965.hp1 HG03017.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0246 a0001c0001t0002g0057 a0001c0001t0002g0134 others(7): Show |
10 | 320 | 0.0313 | 8 | c.24- others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120853983 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01175.hp2 HG02132.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0046 others(10): Show |
13 | 320 | 0.0406 | 8 | c.24- others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120871130 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0229 others(45): Show |
48 | 320 | 0.1500 | 8 | c.23+ others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120876616 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01109.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(33): Show |
36 | 320 | 0.1125 | 8 | c.23+ others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38251506 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00741.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0096 others(35): Show |
40 | 378 | 0.1058 | 8 | c.-16 others(19): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1329 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38251523 | T | TCTCTCAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG02559.hp2 HG02735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0042a0001c0001t0043 | a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0333 others(5): Show |
8 | 378 | 0.0212 | 8 | c.-16 others(19): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1312 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38266640 | C | CAAAAAAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01106.hp1 others(57): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0014a0001c0002t0015others(5): Show | a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0022 others(55): Show |
60 | 378 | 0.1587 | 8 | c.32+ others(25): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38272276 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(73): Show |
80 | 378 | 0.2116 | 8 | c.32+ others(25): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38278828 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01891.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0227 others(19): Show |
22 | 378 | 0.0582 | 8 | c.33- others(25): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38310153 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG04115.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0003 | a0001c0001t0001g0137 a0001c0001t0016g0360 a0001c0002t0003g0022 others(1): Show |
4 | 378 | 0.0106 | 8 | c.207 others(27): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38310153 | G | GTGTGTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01106.hp1 HG01123.hp2 others(38): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015a0001c0002t0025others(3): Show | a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0023 others(36): Show |
41 | 378 | 0.1085 | 8 | c.207 others(27): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38316748 | G | GGTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01258.hp2 others(26): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0014a0001c0002t0015others(2): Show | a0001c0002t0003g0003 a0001c0002t0003g0022 a0001c0002t0003g0026 others(25): Show |
29 | 378 | 0.0767 | 8 | c.208 others(25): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38336380 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0003a0001c0002t0012 | a0001c0001t0010g0088 a0001c0001t0010g0217 a0001c0001t0010g0218 others(6): Show |
11 | 378 | 0.0291 | 8 | c.424 others(25): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38336416 | G | GTATGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00609.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0304 a0001c0001t0002g0009 others(59): Show |
63 | 378 | 0.1667 | 8 | c.424 others(25): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED2_chr2_65305851_65437599 | 65341104 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0003g0123 others(1): Show |
4 | 276 | 0.0145 | 8 | c.204 others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65366029 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02145.hp2 HG02523.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show |
9 | 276 | 0.0326 | 8 | c.27- others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65407245 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00673.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0034 others(58): Show |
61 | 276 | 0.2210 | 8 | c.26+ others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65422077 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01257.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0068 a0001c0001t0003g0239 a0001c0001t0003g0253 others(4): Show |
7 | 276 | 0.0254 | 8 | c.26+ others(23): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65422104 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01081.hp1 HG01261.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 others(2): Show |
5 | 276 | 0.0181 | 8 | c.26+ others(23): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRR1A_chr1_152979081_152990814 | 152979855 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG03486.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 4 | 402 | 0.0100 | 8 | c.-42 others(19): Show |
SPRR1A | ENSG00000169474.5 | transcript | ENST00000368762.2 | protein_coding | 4225 | chr1 | TogoVar | |||||||
SPRR2B_chr1_153065226_153076611 | 153073695 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01975.hp2 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0002 a0002c0002t0004g0007 |
14 | 430 | 0.0326 | 8 | c.-21 others(19): Show |
SPRR2B | ENSG00000196805.8 | transcript | ENST00000368755.3 | protein_coding | 2085 | chr1 | TogoVar | |||||||
SPRR2D_chr1_153034732_153046120 | 153040690 | T | TCTCTTAT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02004.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 3 | 453 | 0.0066 | 8 | c.-19 others(23): Show |
SPRR2D | ENSG00000163216.7 | transcript | ENST00000360379.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
SPRR2D_chr1_153034732_153046120 | 153043284 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(63): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001a0002c0002t0003 | a0001c0001t0008g0016 a0002c0002t0001g0002 a0002c0002t0003g0005 |
66 | 453 | 0.1457 | 8 | c.-22 others(19): Show |
SPRR2D | ENSG00000163216.7 | transcript | ENST00000360379.4 | protein_coding | 2165 | chr1 | TogoVar | |||||||
SPRR2G_chr1_153144582_153155890 | 153152380 | C | CGCTATCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 3 | 424 | 0.0071 | 8 | c.-15 others(19): Show |
SPRR2G | ENSG00000159516.9 | transcript | ENST00000368748.5 | protein_coding | 1491 | chr1 | TogoVar | |||||||
SPRY2_chr13_80330976_80346126 | 80343935 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0011a0002c0002t0002 | a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0011g0020 others(1): Show |
11 | 422 | 0.0261 | 8 | c.-33 others(19): Show |
SPRY2 | ENSG00000136158.12 | transcript | ENST00000377104.4 | protein_coding | 2810 | chr13 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155624517 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0002g0170 a0001c0001t0003g0015 a0001c0001t0007g0131 others(12): Show |
15 | 231 | 0.0649 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar |