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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1038): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0023 | a0023c0016 | a0023c0016t0001 | a0023c0016t0001g0010 | 1 | 252 | 0.0040 | 1045 | c.118 others(1064): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1038): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0058a0001c0002t0001g0059a0001c0002t0001g0060others(1): Show | 4 | 192 | 0.0208 | 1045 | c.441 others(1064): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1038): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0099a0001c0002t0001g0102a0001c0002t0002g0182 | 3 | 208 | 0.0144 | 1045 | c.446 others(1064): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ERICH1_chr8_659200_736224 | 675980 | T | TGAGGACA others(1038): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0296 | 1 | 378 | 0.0027 | 1045 | c.305 others(1062): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355485 | A | AGGAGAAA others(1038): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 82 | 0.0122 | 1045 | c.758 others(1060): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATAAA others(1038): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 344 | 0.0029 | 1045 | c.617 others(1062): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388164 | A | AGGAAGGA others(1038): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 92 | 0.0109 | 1045 | c.574 others(1064): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1038): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0050 | 1 | 348 | 0.0029 | 1045 | c.*87 others(1054): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228913 | A | AAGATCCC others(1038): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0074 | 1 | 398 | 0.0025 | 1045 | c.64+ others(1062): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997189 | C | CGGGGGAA others(1038): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 375 | 0.0027 | 1045 | c.-22 others(1056): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 481 | chr6 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1038): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02155.hp2 HG02300.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0140a0001c0001t0001g0222a0001c0001t0002g0144others(4): Show | 7 | 236 | 0.0297 | 1045 | c.193 others(1064): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACACTT others(1038): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0121 | 1 | 290 | 0.0035 | 1045 | c.129 others(1062): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351506 | C | CTCCTCTC others(1038): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 318 | 0.0031 | 1045 | c.-49 others(1056): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4802 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1038): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0107 | 1 | 318 | 0.0031 | 1045 | c.-49 others(1056): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760459 | A | AGCTGGGA others(1038): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0187 | a0187c0026 | a0187c0026t0001 | a0187c0026t0001g0050 | 1 | 249 | 0.0040 | 1045 | c.148 others(1064): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46383948 | A | AGTGTTGT others(1038): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0028 | a0028c0040 | a0028c0040t0001 | a0028c0040t0001g0012 | 1 | 332 | 0.0030 | 1045 | c.331 others(1064): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(1038): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 237 | 0.0042 | 1045 | c.537 others(1062): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502691 | A | ATGTGGGA others(1038): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 188 | 0.0053 | 1045 | c.147 others(1062): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(1038): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0259 | 1 | 290 | 0.0035 | 1045 | c.464 others(1058): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1038): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0255 | 1 | 322 | 0.0031 | 1045 | c.597 others(1062): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1480799 | C | CCTCCTTC others(1038): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0072 | 1 | 130 | 0.0077 | 1045 | c.133 others(1064): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRIM28_chr19_58539064_58555715 | 58539213 | C | CCACACAC others(1038): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 402 | 0.0025 | 1045 | c.-55 others(1056): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4850 | chr19 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(1038): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01106.hp1 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0009 | a0001c0003t0001g0004a0001c0003t0009g0004 | 15 | 402 | 0.0373 | 1045 | c.-55 others(1056): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(1038): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 402 | 0.0025 | 1045 | c.-55 others(1056): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1038): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 394 | 0.0025 | 1045 | c.129 others(1062): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(1038): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 344 | 0.0029 | 1045 | c.218 others(1062): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1038): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18998.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0098a0001c0003t0002g0129 | 2 | 228 | 0.0088 | 1045 | c.127 others(1062): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1038): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG01934.hp1 others(17): Show |
a0001a0002a0003 | a0001c0003a0002c0005a0003c0006 | a0001c0003t0001a0001c0003t0002a0002c0005t0001others(1): Show | a0001c0003t0001g0090a0001c0003t0001g0104a0001c0003t0001g0113others(17): Show | 20 | 228 | 0.0877 | 1045 | c.127 others(1062): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1038): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03239.hp1 NA20905.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114a0001c0003t0001g0117a0001c0003t0001g0217 | 3 | 228 | 0.0132 | 1045 | c.127 others(1062): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1038): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 228 | 0.0044 | 1045 | c.127 others(1062): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1039): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01978.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0168a0001c0002t0003g0169 | 2 | 306 | 0.0065 | 1046 | c.130 others(1065): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1039): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 306 | 0.0033 | 1046 | c.130 others(1065): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1039): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 306 | 0.0033 | 1046 | c.130 others(1065): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1039): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 360 | 0.0028 | 1046 | c.170 others(1067): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1153362 | T | TGGCACAC others(1039): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 337 | 0.0030 | 1046 | c.61+ others(1063): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1039): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 238 | 0.0042 | 1046 | c.787 others(1061): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1039): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 238 | 0.0042 | 1046 | c.787 others(1061): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1039): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 238 | 0.0042 | 1046 | c.787 others(1061): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1039): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0137 | 1 | 238 | 0.0042 | 1046 | c.787 others(1061): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1039): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0235 | 2 | 318 | 0.0063 | 1046 | c.285 others(1065): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1039): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0113 | 1 | 318 | 0.0031 | 1046 | c.285 others(1065): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1039): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0263 | 1 | 318 | 0.0031 | 1046 | c.285 others(1065): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1039): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0213 | 1 | 338 | 0.0030 | 1046 | c.300 others(1063): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1039): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 142 | 0.0070 | 1046 | c.245 others(1063): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293116 | G | GTCCCCTC others(1039): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0007 | a0007c0052 | a0007c0052t0011 | a0007c0052t0011g0166 | 1 | 284 | 0.0035 | 1046 | c.411 others(1065): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293482 | T | TCACCTTC others(1039): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0208 | 1 | 284 | 0.0035 | 1046 | c.411 others(1063): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(1039): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 284 | 0.0035 | 1046 | c.411 others(1063): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(1039): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 236 | 0.0042 | 1046 | c.342 others(1067): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1039): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0045 | a0045c0052 | a0045c0052t0002 | a0045c0052t0002g0118 | 1 | 278 | 0.0036 | 1046 | c.328 others(1063): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(1039): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0061 | 1 | 230 | 0.0044 | 1046 | c.724 others(1065): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar |