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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PERM1_chr1_970198_987093 | 977444 | C | CCAACCCG others(497): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0077 | 1 | 295 | 0.0034 | 504 | c.215 others(521): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4011943 | T | TGGGGTGT others(497): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0234 | 1 | 325 | 0.0031 | 504 | c.28- others(517): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(497): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG02056.hp1 HG02257.hp1 others(4): Show |
a0019a0026a0027others(3): Show | a0019c0032a0026c0058a0026c0121others(4): Show | a0019c0032t0001a0026c0058t0001a0026c0121t0001others(4): Show | a0019c0032t0001g0236 a0026c0058t0001g0058 a0026c0121t0001g0172 others(4): Show |
7 | 188 | 0.0372 | 504 | c.*26 others(515): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(497): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0229 | 1 | 320 | 0.0031 | 504 | c.-10 others(521): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130338250 | T | TTGCGGGG others(497): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0049a0001c0001t0050 | a0001c0001t0033g0247 a0001c0001t0033g0250 a0001c0001t0049g0249 others(1): Show |
4 | 393 | 0.0102 | 504 | c.-13 others(519): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977444 | C | CCAACCCG others(497): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0167 | 1 | 302 | 0.0033 | 504 | c.*28 others(515): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1580 | chr1 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397617 | A | AGGGGGGC others(497): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 216 | 0.0046 | 504 | c.227 others(521): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(497): Show |
intron_variant | MODIFIER | HG02723.hp1 HG06807.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0035a0001c0003t0024 | a0001c0002t0035g0139 a0001c0003t0024g0057 |
2 | 8 | 0.2500 | 504 | c.822 others(521): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(497): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0146 | 1 | 7 | 0.1429 | 504 | c.822 others(521): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(497): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0101 | 1 | 7 | 0.1429 | 504 | c.822 others(521): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123797 | G | GTCATGGT others(497): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 163 | 0.0061 | 504 | c.335 others(523): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161883 | T | TCCCCCCA others(497): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 351 | 0.0028 | 504 | c.259 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161883 | T | TCCCCCCA others(497): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 351 | 0.0028 | 504 | c.259 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161883 | T | TCCCCCCA others(497): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01993.hp1 HG04228.hp1 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0005c0009t0002 | a0001c0001t0002g0262 a0001c0001t0002g0263 a0005c0009t0002g0261 |
3 | 353 | 0.0085 | 504 | c.259 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161883 | T | TCCCCCCA others(497): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0234 a0001c0001t0002g0008 a0001c0001t0002g0047 others(2): Show |
9 | 359 | 0.0251 | 504 | c.259 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161883 | T | TCCCCCCA others(497): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 351 | 0.0028 | 504 | c.259 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161930 | C | CCATCCTC others(497): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG01943.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0245 others(8): Show |
22 | 99 | 0.2222 | 504 | c.259 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162476 | A | ACATCCTC others(497): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 345 | 0.0029 | 504 | c.260 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162555 | T | TCCCCCCA others(497): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 302 | 0.0033 | 504 | c.260 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162644 | A | ACATCCTC others(497): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 330 | 0.0030 | 504 | c.260 others(519): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80281590 | G | GCCAACAC others(497): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18979.hp1 NA18980.hp1 others(1): Show |
a0001a0002a0025others(1): Show | a0001c0082a0002c0058a0025c0087others(1): Show | a0001c0082t0005a0002c0058t0002a0025c0087t0011others(1): Show | a0001c0082t0005g0227 a0002c0058t0002g0215 a0025c0087t0011g0208 others(1): Show |
4 | 175 | 0.0229 | 504 | c.262 others(521): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272984 | C | CGACATCA others(497): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0129 | 1 | 112 | 0.0089 | 504 | c.438 others(521): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273348 | T | TGACGTCA others(497): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0129 | 1 | 59 | 0.0169 | 504 | c.438 others(521): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273544 | T | TGACTTCA others(497): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19005.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0026 | a0001c0001t0002g0029 a0001c0004t0026g0013 |
2 | 59 | 0.0339 | 504 | c.438 others(521): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273611 | A | AGAGACCC others(497): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 124 | 0.0081 | 504 | c.438 others(521): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80743960 | C | CACAGCCC others(497): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0121 a0001c0012t0003g0123 |
2 | 174 | 0.0115 | 504 | c.655 others(523): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744523 | C | CCCTGGTT others(497): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0074 | a0001c0074t0032 | a0001c0074t0032g0060 | 1 | 159 | 0.0063 | 504 | c.655 others(521): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744677 | T | TAGCACTG others(497): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03688.hp2 |
a0001 | a0001c0010a0001c0054 | a0001c0010t0095a0001c0054t0034 | a0001c0010t0095g0053 a0001c0054t0034g0054 |
2 | 153 | 0.0131 | 504 | c.655 others(521): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744721 | T | TCCTGGTT others(497): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0026 | a0001c0026t0010 | a0001c0026t0010g0044 | 1 | 122 | 0.0082 | 504 | c.655 others(521): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118469545 | T | TAATATAT others(497): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0163 a0001c0002t0005g0081 a0001c0002t0005g0132 others(2): Show |
5 | 33 | 0.1515 | 504 | c.193 others(523): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668591 | T | TCCCCTTA others(497): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0175 | 1 | 208 | 0.0048 | 504 | c.249 others(523): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(497): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0185 | 1 | 105 | 0.0095 | 504 | c.284 others(523): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(497): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0167 | 1 | 259 | 0.0039 | 504 | c.101 others(523): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431859 | T | TAGGGTGG others(497): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0108 | 1 | 327 | 0.0031 | 504 | c.101 others(523): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431903 | A | ATAGGGTG others(497): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0201 | 1 | 342 | 0.0029 | 504 | c.101 others(523): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431931 | T | TAGGGTGG others(497): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0222 | 1 | 320 | 0.0031 | 504 | c.101 others(523): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(497): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0187 | 1 | 278 | 0.0036 | 504 | c.101 others(521): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432129 | T | TAGGATGG others(497): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0183 | 1 | 296 | 0.0034 | 504 | c.101 others(521): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35403936 | G | GGCAAAGG others(497): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0029 | 1 | 137 | 0.0073 | 504 | c.17+ others(521): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501128 | A | ATTATAAT others(497): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0255 | 1 | 152 | 0.0066 | 504 | c.*17 others(523): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501128 | A | ATTATAAT others(497): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 152 | 0.0066 | 504 | c.*17 others(523): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501128 | A | ATTATAAT others(497): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 152 | 0.0066 | 504 | c.*17 others(523): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501128 | A | ATTATAAT others(497): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01255.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0268 others(11): Show |
18 | 169 | 0.1065 | 504 | c.*17 others(523): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501128 | A | ATTATAAT others(497): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18948.hp2 NA18959.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0275 a0001c0001t0002g0284 a0001c0001t0002g0292 others(1): Show |
4 | 155 | 0.0258 | 504 | c.*17 others(523): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245975109 | T | TAGGGAAA others(497): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0129 | 1 | 124 | 0.0081 | 504 | c.532 others(523): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24190091 | A | AATGATAT others(497): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0110 | a0001c0001t0003g0291 a0001c0001t0110g0324 |
2 | 271 | 0.0074 | 504 | c.-11 others(525): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005022 | T | TCACCATC others(497): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 | 1 | 432 | 0.0023 | 504 | c.*11 others(521): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(497): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 12 | 0.0833 | 504 | c.*34 others(513): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109041 | C | CTTATATA others(497): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 69 | 0.0145 | 504 | c.190 others(523): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46772220 | T | TACACATA others(497): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 104 | 0.0096 | 504 | c.62+ others(519): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |