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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPPL3_chr12_120757510_120909358 | 120766100 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | NA18940.hp2 NA18947.hp1 NA18988.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0002t0006 | a0001c0001t0004g0121 a0001c0001t0004g0154 a0001c0001t0004g0156 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 | 120777269 | GATATACT others(1): Show |
G | intron_variant | MODIFIER | NA18954.hp2 NA18955.hp1 NA18957.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0026 | a0001c0002t0006g0071 a0001c0002t0006g0083 a0001c0002t0006g0097 others(5): Show |
8 | 320 | 0.0250 | -8 | c.502 others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120793720 | AAGCCACC others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01099.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005a0001c0002t0006others(4): Show | a0001c0001t0005g0080 a0001c0002t0005g0072 a0001c0002t0005g0073 others(43): Show |
46 | 320 | 0.1438 | -8 | c.102 others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120807674 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0010 others(3): Show |
6 | 320 | 0.0188 | -8 | c.101 others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120833766 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0221 a0001c0001t0001g0222 others(47): Show |
51 | 320 | 0.1594 | -8 | c.24- others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120845858 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0222 a0001c0001t0002g0055 a0001c0001t0003g0297 others(35): Show |
38 | 320 | 0.1188 | -8 | c.24- others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120852592 | TGAAATAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0221 a0001c0001t0001g0222 others(88): Show |
92 | 320 | 0.2875 | -8 | c.24- others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120852670 | TGAAATAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02129.hp2 HG02135.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 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 | 120853983 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01106.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(4): Show | a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0279 others(40): Show |
43 | 320 | 0.1344 | -8 | c.24- others(25): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120894945 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0221 a0001c0001t0001g0222 others(91): Show |
95 | 320 | 0.2969 | -8 | c.23+ others(23): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38251697 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00642.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0230 a0001c0001t0002g0237 a0001c0001t0002g0241 others(50): Show |
53 | 378 | 0.1402 | -8 | c.-14 others(19): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1138 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65310458 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00609.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0077 a0001c0001t0003g0193 a0001c0001t0003g0212 others(21): Show |
24 | 276 | 0.0870 | -8 | c.*30 others(19): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 392 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65322229 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0001a0001c0004t0002 | a0001c0001t0003g0123 a0001c0001t0003g0259 a0001c0002t0001g0102 others(4): Show |
7 | 276 | 0.0254 | -8 | c.439 others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65322264 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG04199.hp2 NA19068.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0151 |
3 | 276 | 0.0109 | -8 | c.439 others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65322266 | CTCTCTAT others(1): Show |
C | intron_variant | MODIFIER | HG06807.hp1 NA18950.hp2 NA18999.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0018 | a0001c0001t0002g0005 a0001c0002t0004g0024 a0001c0002t0018g0158 |
3 | 276 | 0.0109 | -8 | c.439 others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65327713 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0035 a0001c0001t0003g0233 a0001c0001t0003g0250 others(7): Show |
10 | 276 | 0.0362 | -8 | c.438 others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65356518 | GCAGTTCC others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01433.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0232 others(15): Show |
18 | 276 | 0.0652 | -8 | c.27- others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65419577 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0003a0001c0009t0001 | a0001c0003t0003g0220 a0001c0003t0003g0222 a0001c0003t0003g0223 others(3): Show |
6 | 276 | 0.0217 | -8 | c.26+ others(25): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65422104 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01074.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0003g0203 a0001c0001t0003g0226 a0001c0001t0003g0227 others(13): Show |
16 | 276 | 0.0580 | -8 | c.26+ others(23): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133429066 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(145): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0071 others(47): Show |
148 | 474 | 0.3122 | -8 | c.-46 others(19): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 4442 | chr10 | TogoVar | |||||||
SPRR1A_chr1_152979081_152990814 | 152979855 | TCTCACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | NA18980.hp2 NA18997.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 402 | 0.0075 | -8 | c.-42 others(19): Show |
SPRR1A | ENSG00000169474.5 | transcript | ENST00000368762.2 | protein_coding | 4225 | chr1 | TogoVar | |||||||
SPRR2A_chr1_153051120_153062512 | 153052395 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0007 others(1): Show |
55 | 442 | 0.1244 | -8 | c.*41 others(19): Show |
SPRR2A | ENSG00000241794.2 | transcript | ENST00000392653.3 | protein_coding | 3724 | chr1 | TogoVar | |||||||
SPRTN_chr1_231333293_231360023 | 231359054 | TTATATAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 NA19002.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0084 |
3 | 352 | 0.0085 | -8 | c.*56 others(19): Show |
SPRTN | ENSG00000010072.16 | transcript | ENST00000295050.12 | protein_coding | 4032 | chr1 | TogoVar | |||||||
SPRY2_chr13_80330976_80346126 | 80337615 | TGGGGTCG others(1): Show |
T | frameshift_variant | HIGH | NA19066.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0039 | 1 | 422 | 0.0024 | -8 | c.83_ others(13): Show |
p.Pro others(4): Show |
SPRY2 | ENSG00000136158.12 | transcript | ENST00000377104.4 | protein_coding | 2/2 | 646/2286 | 83/948 | 28/315 | chr13 | TogoVar | |||
SPRY3_chrX_155607586_155787459 | 155624517 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01069.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 others(39): Show |
42 | 231 | 0.1818 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155632219 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0115 | 1 | 231 | 0.0043 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155636564 | GGTATGTA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0164 others(98): Show |
101 | 231 | 0.4372 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155638293 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02148.hp2 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0055others(1): Show | a0001c0001t0002g0004 a0001c0001t0008g0005 a0001c0001t0055g0023 others(1): Show |
4 | 231 | 0.0173 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155654686 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01433.hp1 HG01943.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0001g0214 a0001c0001t0005g0194 a0001c0001t0007g0099 others(7): Show |
10 | 231 | 0.0433 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155657926 | GGCTGCAC others(1): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0072 | 1 | 231 | 0.0043 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155659104 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02148.hp2 HG02165.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0020others(7): Show | a0001c0001t0002g0004 a0001c0001t0002g0127 a0001c0001t0007g0131 others(9): Show |
12 | 231 | 0.0520 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155692197 | TTAGCTCC others(1): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0131 | a0001c0002t0131g0012 | 1 | 231 | 0.0043 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155696951 | GTAATGGG others(1): Show |
G | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0119 | 1 | 231 | 0.0043 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155716981 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 others(81): Show |
84 | 231 | 0.3636 | -8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155770628 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG03239.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0054 | a0001c0001t0004g0145 a0001c0002t0054g0105 |
2 | 231 | 0.0087 | -8 | c.-10 others(27): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155773307 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0043a0001c0001t0064a0001c0001t0065others(1): Show | a0001c0001t0043g0132 a0001c0001t0064g0066 a0001c0001t0065g0056 others(1): Show |
4 | 231 | 0.0173 | -8 | c.-10 others(25): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY4_chr5_142305430_142330021 | 142327424 | TTCATTCA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(200): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0025 others(129): Show |
203 | 378 | 0.5370 | -8 | c.-26 others(19): Show |
SPRY4 | ENSG00000187678.10 | transcript | ENST00000434127.3 | protein_coding | 2404 | chr5 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9312155 | ATTTTAAT others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0012a0001c0001t0023a0001c0001t0024others(2): Show | a0001c0001t0012g0017 a0001c0001t0023g0043 a0001c0001t0024g0119 others(2): Show |
5 | 370 | 0.0135 | -8 | c.-15 others(29): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9348937 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02970.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0002t0005a0001c0007t0005 | a0001c0001t0003g0047 a0001c0002t0005g0045 a0001c0002t0005g0046 others(1): Show |
4 | 370 | 0.0108 | -8 | c.-14 others(27): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9357141 | ATGGATGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(101): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0007others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(22): Show | a0001c0002t0001g0026 a0001c0002t0001g0052 a0001c0002t0001g0054 others(100): Show |
104 | 370 | 0.2811 | -8 | c.694 others(23): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141082618 | GCTATCTA others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02809.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0023a0001c0001t0025others(3): Show | a0001c0001t0006g0158 a0001c0001t0023g0009 a0001c0001t0025g0144 others(6): Show |
10 | 254 | 0.0394 | -8 | c.694 others(27): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141097750 | CCCACAGA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0084 others(34): Show |
40 | 254 | 0.1575 | -8 | c.694 others(27): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141142803 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0084 others(34): Show |
40 | 254 | 0.1575 | -8 | c.695 others(25): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141151325 | CTTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02818.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0029 a0001c0001t0002g0182 a0001c0001t0004g0152 others(7): Show |
10 | 254 | 0.0394 | -8 | c.*40 others(19): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2715 | chr3 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141151369 | TGTGTGTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp1 HG02965.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0035others(4): Show | a0001c0001t0002g0036 a0001c0001t0006g0191 a0001c0001t0035g0216 others(4): Show |
7 | 254 | 0.0276 | -8 | c.*41 others(19): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2759 | chr3 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158629187 | CTCTATCT others(1): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02109.hp2 HG02257.hp1 others(3): Show |
a0001a0005a0010others(2): Show | a0001c0004a0005c0049a0005c0072others(3): Show | a0001c0004t0006a0005c0049t0013a0005c0072t0037others(3): Show | a0001c0004t0006g0196 a0005c0049t0013g0280 a0005c0072t0037g0327 others(3): Show |
6 | 370 | 0.0162 | -8 | c.556 others(27): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 39/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158651880 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG03579.hp1 |
a0004a0013 | a0004c0029a0013c0098 | a0004c0029t0004a0013c0098t0021 | a0004c0029t0004g0164 a0004c0029t0004g0166 a0013c0098t0021g0167 |
3 | 370 | 0.0081 | -8 | c.337 others(25): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 23/51 | chr1 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128570330 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01256.hp2 HG01258.hp1 others(3): Show |
a0001a0004a0005 | a0001c0002a0004c0015a0005c0020 | a0001c0002t0001a0004c0015t0001a0005c0020t0001 | a0001c0002t0001g0183 a0001c0002t0001g0225 a0001c0002t0001g0241 others(3): Show |
6 | 312 | 0.0192 | -8 | c.363 others(25): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 3/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128623622 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG03669.hp2 HG03688.hp1 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0285 a0002c0004t0002g0275 a0002c0004t0002g0276 others(7): Show |
10 | 312 | 0.0321 | -8 | c.583 others(25): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 45/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54465637 | CTCATATA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG02486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0028 | a0001c0002t0001g0312 a0001c0002t0028g0294 a0001c0002t0028g0295 |
3 | 370 | 0.0081 | -8 | c.-48 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar |