| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZBTB20_chr3_114309500_115152288 | 114646077 | T | TAAAAATA others(313): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0083 | 1 | 88 | 0.0114 | 320 | c.-29 others(341): Show |
ZBTB20 | ENSG00000181722.18 | transcript | ENST00000675478.1 | protein_coding | 6/11 | chr3 | TogoVar | |||||||
| ZC3H8_chr2_112206529_112260042 | 112244015 | T | TAAAGAAA others(313): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0273 | 1 | 318 | 0.0031 | 320 | c.157 others(337): Show |
ZC3H8 | ENSG00000144161.14 | transcript | ENST00000409573.7 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
| ZFYVE19_chr15_40802089_40820084 | 40808120 | G | GCAAAGCT others(313): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0033 | 1 | 382 | 0.0026 | 320 | c.279 others(335): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ZNF182_chrX_47969851_48008989 | 47971562 | T | TACACGTG others(313): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 270 | 0.0037 | 320 | c.*46 others(331): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 3288 | chrX | TogoVar | |||||||
| ZNF236_chr18_76817557_76977901 | 76847096 | A | ACATCATT others(313): Show |
intron_variant | MODIFIER | NA18992.hp2 NA19005.hp1 |
a0003 | a0003c0023a0003c0048 | a0003c0023t0014a0003c0048t0014 | a0003c0023t0014g0330a0003c0048t0014g0329 | 2 | 346 | 0.0058 | 320 | c.56- others(335): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ZNF236_chr18_76817557_76977901 | 76847096 | A | ACATCATT others(313): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0049 | a0003c0049t0014 | a0003c0049t0014g0331 | 1 | 346 | 0.0029 | 320 | c.56- others(335): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ZNF236_chr18_76817557_76977901 | 76851082 | G | GAAGAGTT others(313): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0111 | 1 | 346 | 0.0029 | 320 | c.199 others(335): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ZNF2_chr2_95160809_95189317 | 95179292 | T | TCATTATC others(313): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 366 | 0.0027 | 320 | c.161 others(335): Show |
ZNF2 | ENSG00000275111.5 | transcript | ENST00000614034.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ZNF354C_chr5_179055373_179088977 | 179088780 | T | TAAGAATT others(313): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG03209.hp1 HG03486.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0004a0007c0005t0004 | a0001c0001t0004g0140a0001c0001t0004g0230a0007c0005t0004g0226others(1): Show | 4 | 440 | 0.0091 | 320 | c.*86 others(331): Show |
ZNF354C | ENSG00000177932.7 | transcript | ENST00000315475.7 | protein_coding | 4804 | chr5 | TogoVar | |||||||
| ZNF543_chr19_57315472_57335770 | 57319211 | T | TATACATA others(313): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 NA18955.hp2 NA19057.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0041a0001c0001t0001g0119a0002c0002t0002g0001 | 5 | 460 | 0.0109 | 320 | c.-16 others(331): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1260 | chr19 | TogoVar | |||||||
| ZNF543_chr19_57315472_57335770 | 57319295 | T | TATATACA others(313): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 460 | 0.0022 | 320 | c.-15 others(331): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1176 | chr19 | TogoVar | |||||||
| ZNF652_chr17_49284206_49367250 | 49348479 | A | AAAAAGAA others(313): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0045 | 1 | 382 | 0.0026 | 320 | c.-25 others(341): Show |
ZNF652 | ENSG00000198740.9 | transcript | ENST00000430262.3 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
| ZNF727_chr7_64040434_64090339 | 64068191 | T | TTGTACTC others(313): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0006 | a0006c0008 | a0006c0008t0017 | a0006c0008t0017g0163 | 1 | 408 | 0.0025 | 320 | c.4-6 others(331): Show |
ZNF727 | ENSG00000214652.6 | transcript | ENST00000456806.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ZNF778_chr16_89212703_89242141 | 89224967 | T | TAAGATGC others(313): Show |
intron_variant | MODIFIER | NA18954.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0074 | a0001c0001t0004g0040a0002c0003t0074g0040 | 2 | 434 | 0.0046 | 320 | c.328 others(335): Show |
ZNF778 | ENSG00000170100.14 | transcript | ENST00000433976.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF835_chr19_56656980_56676757 | 56670026 | C | CCAGGAGT others(313): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0019 | a0001c0019t0044 | a0001c0019t0044g0125 | 1 | 450 | 0.0022 | 320 | c.-48 others(337): Show |
ZNF835 | ENSG00000127903.14 | transcript | ENST00000537055.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(313): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0114 | 1 | 400 | 0.0025 | 320 | c.532 others(335): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(313): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 2 | 400 | 0.0050 | 320 | c.532 others(335): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| AASDHPPT_chr11_106072662_106103695 | 106078218 | T | TATGTCTT others(314): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 404 | 0.0025 | 321 | c.183 others(336): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| AASDH_chr4_56333290_56392491 | 56392004 | T | TTTTTTTT others(314): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0058 | 1 | 382 | 0.0026 | 321 | c.-46 others(332): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4514 | chr4 | TogoVar | |||||||
| ABHD18_chr4_127960406_128044953 | 128037836 | T | TCTTAAAT others(314): Show |
3_prime_UTR_variant | MODIFIER | NA19075.hp2 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0294 | 1 | 344 | 0.0029 | 321 | c.*20 others(332): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 2040 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABHD18_chr4_127960406_128044953 | 128037836 | T | TCTTAAAT others(314): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01978.hp2 HG01981.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0021a0002c0002t0031 | a0002c0002t0020g0282a0002c0002t0020g0284a0002c0002t0020g0308others(7): Show | 10 | 344 | 0.0291 | 321 | c.*20 others(332): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 2040 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ABR_chr17_998519_1184981 | 1119083 | G | GTTCCTCC others(314): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0014 | a0001c0014t0010 | a0001c0014t0010g0307 | 1 | 337 | 0.0030 | 321 | c.246 others(338): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
| ACAP3_chr1_1287391_1312930 | 1288641 | C | CCCGTCCC others(314): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 295 | 0.0034 | 321 | c.*49 others(332): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3749 | chr1 | TogoVar | |||||||
| ACSBG1_chr15_78162468_78239565 | 78195467 | T | TAAGAGTC others(314): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0230 | 1 | 350 | 0.0029 | 321 | c.233 others(336): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 2/13 | chr15 | TogoVar | |||||||
| ACSM3_chr16_20759014_20802581 | 20766305 | T | TAAGAAAT others(314): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 356 | 0.0028 | 321 | c.-52 others(338): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ACSS2_chr20_34871612_34932959 | 34885959 | T | TAGGCAAT others(314): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03579.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0145a0002c0004t0001g0147a0002c0004t0001g0148others(1): Show | 4 | 312 | 0.0128 | 321 | c.374 others(338): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| ACTG2_chr2_73888008_73924865 | 73898352 | T | TGCACCTT others(314): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0126a0001c0001t0001g0315a0001c0001t0001g0349others(18): Show | 22 | 416 | 0.0529 | 321 | c.-36 others(338): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ACTG2_chr2_73888008_73924865 | 73898352 | T | TGCACCTT others(314): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 416 | 0.0024 | 321 | c.-36 others(338): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ADAM2_chr8_39738735_39843227 | 39822506 | T | TTGCATTG others(314): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 329 | 0.0030 | 321 | c.268 others(336): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 4/20 | chr8 | TogoVar | |||||||
| ADAT1_chr16_75591868_75628281 | 75621256 | A | AGGCATTT others(314): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0061 | a0002c0002t0061g0213 | 1 | 348 | 0.0029 | 321 | c.-21 others(336): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
| ADAT1_chr16_75591868_75628281 | 75621256 | A | AGGCATTT others(314): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(105): Show |
a0002a0006a0008others(1): Show | a0002c0002a0002c0010a0006c0009others(2): Show | a0002c0002t0001a0002c0002t0013a0002c0002t0018others(17): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0009others(87): Show | 108 | 348 | 0.3103 | 321 | c.-21 others(336): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
| ADAT1_chr16_75591868_75628281 | 75621256 | A | AGGCATTT others(314): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG03098.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0019 | a0003c0003t0001g0008a0003c0003t0019g0128 | 3 | 348 | 0.0086 | 321 | c.-21 others(336): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
| ADAT1_chr16_75591868_75628281 | 75621256 | A | AGGCATTT others(314): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 1 | 348 | 0.0029 | 321 | c.-21 others(336): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
| ADCY9_chr16_3957653_4121442 | 4047473 | T | TAAAAAAA others(314): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0221 | 1 | 320 | 0.0031 | 321 | c.169 others(342): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| ADCY9_chr16_3957653_4121442 | 4047473 | T | TAAAAAAA others(314): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0174 | 1 | 320 | 0.0031 | 321 | c.169 others(342): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| ADCY9_chr16_3957653_4121442 | 4094186 | T | TAGTTCTG others(314): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18993.hp1 |
a0001 | a0001c0007a0001c0031 | a0001c0007t0001a0001c0031t0014 | a0001c0007t0001g0100a0001c0031t0014g0096 | 2 | 320 | 0.0063 | 321 | c.169 others(342): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| ADGRL4_chr1_78884764_79011730 | 78967888 | T | TTAAACTG others(314): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0040 | 1 | 390 | 0.0026 | 321 | c.173 others(340): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
| AFTPH_chr2_64519328_64598005 | 64544650 | T | TAGAAATG others(314): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0267 | 1 | 372 | 0.0027 | 321 | c.-32 others(338): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| AGGF1_chr5_77025404_77070234 | 77042586 | A | ACCCCCCC others(314): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 438 | 0.0023 | 321 | c.870 others(338): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| AGK_chr7_141546410_141660244 | 141614595 | T | TTTCTACA others(314): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 274 | 0.0037 | 321 | c.423 others(336): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| AK5_chr1_77277019_77564966 | 77299296 | T | TTGCCCAT others(314): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01433.hp2 HG02055.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0002a0002c0004t0018 | a0001c0003t0001g0239a0001c0003t0001g0242a0001c0003t0001g0244others(4): Show | 7 | 284 | 0.0247 | 321 | c.699 others(338): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| AKR1C1_chr10_4958415_4988283 | 4961552 | T | TCATTTTA others(314): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0034 | 1 | 426 | 0.0024 | 321 | c.-18 others(332): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 1862 | chr10 | TogoVar | |||||||
| AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(314): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18989.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0120others(1): Show | 4 | 301 | 0.0133 | 321 | c.125 others(342): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| ALKBH8_chr11_107497727_107570735 | 107529672 | T | TTTTTGTA others(314): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0275 | 1 | 400 | 0.0025 | 321 | c.878 others(338): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
| ALK_chr2_29187774_29926586 | 29583551 | T | TCTGGACT others(314): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19240.hp2 |
a0002a0005 | a0002c0001a0005c0046 | a0002c0001t0001a0005c0046t0004 | a0002c0001t0001g0061a0005c0046t0004g0053 | 2 | 80 | 0.0250 | 321 | c.953 others(340): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
| ALPK3_chr15_84812356_84878479 | 84854229 | T | TCTACTAA others(314): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 340 | 0.0029 | 321 | c.165 others(340): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ALS2_chr2_201695267_201785933 | 201766722 | G | GAAAATGT others(314): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 354 | 0.0028 | 321 | c.175 others(336): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | |||||||
| ALS2_chr2_201695267_201785933 | 201766722 | G | GAAAATGT others(314): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(93): Show |
a0001a0006a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0010others(11): Show | a0001c0001t0001g0083a0001c0001t0001g0149a0001c0001t0001g0205others(90): Show | 96 | 354 | 0.2712 | 321 | c.175 others(336): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | |||||||
| ANKRD33B_chr5_10559070_10662816 | 10634868 | T | TAAAGAAG others(314): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp2 others(8): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0007others(3): Show | a0001c0002t0001g0138a0001c0002t0001g0147a0001c0002t0001g0148others(8): Show | 11 | 324 | 0.0340 | 321 | c.497 others(338): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ANKRD33B_chr5_10559070_10662816 | 10634868 | T | TAAAGAAG others(314): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0006 | a0006c0018 | a0006c0018t0035a0006c0018t0061 | a0006c0018t0035g0112a0006c0018t0061g0090 | 2 | 324 | 0.0062 | 321 | c.497 others(338): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |