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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA31F3_chr9_34884066_34900764 | 34886736 | ATATCTAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 HG03471.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0049 |
3 | 434 | 0.0069 | -8 | c.*26 others(19): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2329 | chr9 | TogoVar | |||||||
SPATA33_chr16_89652836_89675458 | 89675343 | TTTTGTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | NA18949.hp2 NA19074.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 3 | 422 | 0.0071 | -8 | c.*58 others(19): Show |
SPATA33 | ENSG00000167523.15 | transcript | ENST00000579310.6 | protein_coding | 4886 | chr16 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212843093 | TCAAACAT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 NA20300.hp2 |
a0003 | a0003c0000 | a0003c0000t0002 | a0003c0000t0002g0048 a0003c0000t0002g0163 |
3 | 402 | 0.0075 | -8 | c.-39 others(25): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212843100 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0064 |
4 | 402 | 0.0100 | -8 | c.-39 others(25): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50109362 | AATTTATT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(224): Show |
237 | 328 | 0.7226 | -8 | c.651 others(25): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50125151 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01496.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 others(3): Show |
6 | 328 | 0.0183 | -8 | c.652 others(25): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50145608 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02559.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0033 a0004c0004t0001g0104 a0004c0004t0001g0229 |
3 | 328 | 0.0092 | -8 | c.108 others(27): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50145614 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG03041.hp2 HG03486.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0105 a0001c0001t0001g0200 a0001c0001t0004g0106 |
3 | 328 | 0.0092 | -8 | c.108 others(27): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50152664 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02559.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(3): Show |
6 | 328 | 0.0183 | -8 | c.119 others(27): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA4_chr4_176179579_176200585 | 176182405 | GTATATAT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0002t0001g0072 others(15): Show |
66 | 456 | 0.1447 | -8 | c.*23 others(19): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 2173 | chr4 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176196340 | GTTTTTTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02280.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0023 a0001c0003t0001g0051 a0001c0003t0001g0135 |
7 | 456 | 0.0154 | -8 | c.-78 others(17): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 756 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 122996570 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02622.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0012a0001c0004t0002others(2): Show | a0001c0001t0001g0175 a0001c0001t0001g0202 a0001c0001t0012g0241 others(5): Show |
8 | 262 | 0.0305 | -8 | c.186 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123026105 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0005a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(188): Show |
191 | 262 | 0.7290 | -8 | c.187 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123179307 | CTACTTAC others(1): Show |
C | intron_variant | MODIFIER | NA18966.hp2 NA18970.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0017 a0001c0001t0008g0091 a0001c0001t0008g0092 |
3 | 262 | 0.0115 | -8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123183929 | TATTTATT others(1): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA18522.hp2 NA20129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0019a0002c0002t0007 | a0001c0001t0006g0003 a0001c0001t0019g0001 a0001c0001t0019g0002 others(1): Show |
4 | 262 | 0.0153 | -8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123218640 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01515.hp1 HG01891.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0028a0001c0001t0037others(2): Show | a0001c0001t0001g0097 a0001c0001t0028g0025 a0001c0001t0037g0153 others(2): Show |
5 | 262 | 0.0191 | -8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4597319 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(13): Show |
a0001a0010a0013 | a0001c0001a0001c0004a0010c0019others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0019others(7): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0219 others(13): Show |
16 | 408 | 0.0392 | -8 | c.*34 others(19): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 996 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4611925 | CCTTGAAC others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02818.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0010a0002c0005t0031 | a0002c0005t0010g0094 a0002c0005t0010g0096 a0002c0005t0010g0158 others(3): Show |
6 | 408 | 0.0147 | -8 | c.995 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 9/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644681 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01192.hp1 others(10): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(8): Show | a0001c0001t0001g0066 a0001c0001t0003g0019 a0001c0001t0015g0138 others(10): Show |
13 | 408 | 0.0319 | -8 | c.227 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644683 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01361.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0123 a0001c0001t0002g0086 a0001c0001t0002g0227 others(23): Show |
26 | 408 | 0.0637 | -8 | c.227 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644685 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01496.hp2 HG02559.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0164 others(10): Show |
13 | 408 | 0.0319 | -8 | c.227 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4649060 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp2 HG02809.hp2 others(2): Show |
a0001a0013 | a0001c0001a0001c0006a0013c0015 | a0001c0001t0015a0001c0001t0019a0001c0006t0048others(1): Show | a0001c0001t0015g0138 a0001c0001t0015g0239 a0001c0001t0019g0151 others(2): Show |
5 | 408 | 0.0123 | -8 | c.226 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4649062 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01891.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0010 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0075 others(13): Show |
16 | 408 | 0.0392 | -8 | c.226 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4650824 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(33): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0003a0005c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(13): Show | a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0148 others(32): Show |
36 | 408 | 0.0882 | -8 | c.226 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4656441 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01123.hp1 others(29): Show |
a0001a0002a0013 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0037 a0001c0001t0001g0231 a0001c0001t0001g0304 others(29): Show |
32 | 408 | 0.0784 | -8 | c.178 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48297125 | GGTGTGTG others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0034a0001c0001t0041 | a0001c0001t0014g0196 a0001c0001t0014g0198 a0001c0001t0014g0213 others(3): Show |
6 | 322 | 0.0186 | -8 | c.*15 others(19): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 13/13 | 1580 | chr1 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48371270 | TATAGATA others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01243.hp2 HG01257.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0010a0002c0002t0030 | a0001c0001t0009g0206 a0001c0001t0009g0207 a0001c0001t0009g0226 others(2): Show |
5 | 322 | 0.0155 | -8 | c.910 others(27): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48418795 | AGGAAGGA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(93): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0010a0002c0002t0001a0002c0002t0005others(9): Show | a0001c0001t0010g0103 a0001c0001t0010g0211 a0002c0002t0001g0001 others(93): Show |
96 | 322 | 0.2981 | -8 | c.239 others(25): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46174336 | AAACAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02257.hp2 HG02622.hp1 others(10): Show |
a0001a0006a0020others(1): Show | a0001c0003a0006c0027a0020c0028others(1): Show | a0001c0003t0005a0001c0003t0009a0006c0027t0009others(2): Show | a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0003t0005g0024 others(10): Show |
13 | 251 | 0.0518 | -8 | c.194 others(25): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44341266 | ATATCTAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG03688.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0041a0002c0003t0002 | a0001c0001t0001g0018 a0001c0001t0041g0233 a0002c0003t0002g0043 others(3): Show |
6 | 392 | 0.0153 | -8 | c.-15 others(19): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 1383 | chr6 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44354334 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp1 HG02258.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0008 | a0001c0001t0042a0001c0004t0004a0001c0004t0009others(6): Show | a0001c0001t0042g0232 a0001c0004t0004g0047 a0001c0004t0004g0295 others(14): Show |
19 | 392 | 0.0485 | -8 | c.287 others(25): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATS1_chr6_44337650_44385179 | 44354367 | AAATAAAT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(56): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0193 a0001c0001t0004g0189 a0001c0001t0004g0190 others(45): Show |
59 | 392 | 0.1505 | -8 | c.287 others(25): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200352311 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp1 HG03139.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0008a0001c0001t0021a0001c0001t0033others(3): Show | a0001c0001t0008g0067 a0001c0001t0021g0074 a0001c0001t0033g0039 others(3): Show |
6 | 300 | 0.0200 | -8 | c.-23 others(27): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396031 | AAAATATA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01517.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0035others(3): Show | a0001c0001t0008g0015 a0001c0001t0008g0017 a0001c0001t0011g0299 others(5): Show |
8 | 300 | 0.0267 | -8 | c.39+ others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396060 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02155.hp2 HG03704.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0011a0001c0001t0018a0001c0001t0078others(3): Show | a0001c0001t0011g0001 a0001c0001t0011g0219 a0001c0001t0018g0055 others(4): Show |
7 | 300 | 0.0233 | -8 | c.39+ others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200418581 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(130): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0001g0202 others(130): Show |
133 | 300 | 0.4433 | -8 | c.199 others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200457223 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(64): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0251 others(64): Show |
67 | 300 | 0.2233 | -8 | c.789 others(25): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200466300 | CTTTTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01361.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0156 a0001c0001t0007g0161 a0001c0001t0007g0171 others(3): Show |
6 | 300 | 0.0200 | -8 | c.848 others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49372940 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01192.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0128 others(18): Show |
21 | 158 | 0.1329 | -8 | c.-24 others(27): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49375141 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01175.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0076 others(12): Show |
15 | 158 | 0.0949 | -8 | c.-24 others(27): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516166 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0088 others(6): Show |
9 | 158 | 0.0570 | -8 | c.898 others(25): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74955851 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01981.hp1 HG02647.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0137 a0001c0001t0001g0209 a0001c0001t0002g0004 others(6): Show |
14 | 378 | 0.0370 | -8 | c.114 others(25): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPDEF_chr6_34532802_34561329 | 34543213 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01123.hp2 others(32): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(2): Show | a0002c0002t0001g0018 a0002c0002t0001g0034 a0002c0002t0001g0043 others(15): Show |
35 | 382 | 0.0916 | -8 | c.436 others(23): Show |
SPDEF | ENSG00000124664.11 | transcript | ENST00000374037.8 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
SPDL1_chr5_169578773_169609778 | 169597232 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(162): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(55): Show |
165 | 398 | 0.4146 | -8 | c.103 others(25): Show |
SPDL1 | ENSG00000040275.17 | transcript | ENST00000265295.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPDL1_chr5_169578773_169609778 | 169605573 | TGATAGAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02818.hp2 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 3 | 398 | 0.0075 | -8 | c.*13 others(19): Show |
SPDL1 | ENSG00000040275.17 | transcript | ENST00000265295.9 | protein_coding | 796 | chr5 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28815283 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(11): Show |
14 | 338 | 0.0414 | -8 | c.-19 others(23): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28823702 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 others(56): Show |
61 | 338 | 0.1805 | -8 | c.380 others(25): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28823738 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0056 others(4): Show |
7 | 338 | 0.0207 | -8 | c.380 others(25): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28846722 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(53): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0187 a0001c0001t0001g0188 others(52): Show |
56 | 338 | 0.1657 | -8 | c.851 others(25): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYE10_chr7_73099008_73160431 | 73135406 | GCATTCAT others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03540.hp2 |
a0006 | a0006c0008 | a0006c0008t0004 | a0006c0008t0004g0051 a0006c0008t0004g0053 |
2 | 216 | 0.0093 | -8 | c.-63 others(29): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar |