| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP9B_chr18_79064394_79383283 | 79358316 | C | CCTGGGTC others(163): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 298 | 0.0034 | 170 | c.290 others(189): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70004170 | A | AATATATA others(163): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0011 | 1 | 76 | 0.0132 | 170 | c.522 others(191): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70004170 | A | AATATATA others(163): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0005 | a0005c0011 | a0005c0011t0007 | a0005c0011t0007g0004 | 1 | 76 | 0.0132 | 170 | c.522 others(191): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70004170 | A | ATTATATA others(163): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 76 | 0.0132 | 170 | c.522 others(191): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | ||||||
| BFSP2_chr3_133395056_133480208 | 133425953 | G | GGGGGAAG others(163): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 276 | 0.0036 | 170 | c.490 others(189): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BOC_chr3_113206557_113292459 | 113236266 | G | GTATATAT others(163): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18972.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0063a0001c0001t0001g0106a0001c0001t0015g0373 | 3 | 386 | 0.0078 | 170 | c.-81 others(189): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BOC_chr3_113206557_113292459 | 113236266 | G | GTGTATAT others(163): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0043 | 1 | 386 | 0.0026 | 170 | c.-81 others(189): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BRD1_chr22_49768283_49832873 | 49775823 | C | CGCCCCCC others(163): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 258 | 0.0039 | 170 | c.323 others(185): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 11/12 | chr22 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61716776 | C | CCCATATT others(163): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG02622.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0004a0001c0001t0027a0001c0001t0054others(1): Show | a0001c0001t0004g0175a0001c0001t0004g0180a0001c0001t0004g0190others(4): Show | 7 | 266 | 0.0263 | 170 | c.238 others(187): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 16/19 | chr17 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61716830 | G | GGAAATAA others(163): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0005 | a0001c0005t0031 | a0001c0005t0031g0146 | 1 | 266 | 0.0038 | 170 | c.238 others(187): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 16/19 | chr17 | TogoVar | ||||||
| BSG_chr19_567596_588493 | 570665 | A | AGGGGGCG others(163): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 306 | 0.0033 | 170 | c.-19 others(181): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1930 | chr19 | TogoVar | ||||||
| BTRC_chr10_101349165_101562313 | 101366918 | T | TTATATAT others(163): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0070 | 1 | 266 | 0.0038 | 170 | c.48+ others(187): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(163): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 |
a0002a0014 | a0002c0037a0014c0014 | a0002c0037t0001a0014c0014t0001 | a0002c0037t0001g0027a0014c0014t0001g0029 | 2 | 326 | 0.0061 | 170 | c.144 others(187): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| C2orf16_chr2_27532386_27587722 | 27557925 | A | ACCTCCCT others(163): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0220 | 1 | 326 | 0.0031 | 170 | c.145 others(187): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| C8orf82_chr8_144520733_144534111 | 144531174 | T | TGAAGGGC others(163): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 398 | 0.0025 | 170 | c.-22 others(181): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2064 | chr8 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(163): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 398 | 0.0025 | 170 | c.-22 others(181): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531427 | G | GGAGCAGC others(163): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG02083.hp1 HG02129.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0005a0001c0002t0002g0006others(1): Show | 8 | 398 | 0.0201 | 170 | c.-25 others(181): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2317 | chr8 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(163): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01106.hp2 others(9): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0015others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(9): Show | 12 | 218 | 0.0551 | 170 | c.573 others(189): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(163): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0028 | 1 | 218 | 0.0046 | 170 | c.573 others(189): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(163): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0126 | 1 | 218 | 0.0046 | 170 | c.573 others(189): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 137921710 | G | GACCGCAC others(163): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0049 | 1 | 248 | 0.0040 | 170 | c.966 others(187): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1I_chr22_39565753_39694735 | 39596214 | T | TGGGGGGG others(163): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0050 | a0001c0050t0003 | a0001c0050t0003g0201 | 1 | 236 | 0.0042 | 170 | c.237 others(187): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACATAC others(163): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02896.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0228a0003c0003t0003g0308a0003c0003t0003g0323 | 3 | 460 | 0.0065 | 170 | c.193 others(187): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN11_chr6_44153820_44189401 | 44182074 | A | ACTCACAC others(163): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 460 | 0.0022 | 170 | c.193 others(187): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAPN12_chr19_38725192_38749474 | 38735866 | T | TGCGGGCG others(163): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0031 | 1 | 342 | 0.0029 | 170 | c.158 others(187): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(163): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0259 | 1 | 364 | 0.0028 | 170 | c.234 others(187): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| CCDC171_chr9_15548043_15979037 | 15767830 | T | TCCCTCCC others(163): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0048 | 1 | 266 | 0.0038 | 170 | c.267 others(189): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC171_chr9_15548043_15979037 | 15767830 | T | TCCCTCCC others(163): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19002.hp1 NA19003.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0039a0004c0004t0003g0044a0004c0004t0003g0052 | 3 | 266 | 0.0113 | 170 | c.267 others(189): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC171_chr9_15548043_15979037 | 15767830 | T | TCCCTCCC others(163): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0083 | 1 | 266 | 0.0038 | 170 | c.267 others(189): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC30_chr1_42458286_42662190 | 42535699 | T | TATATATA others(163): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0029 | a0006c0029t0039 | a0006c0029t0039g0052 | 1 | 324 | 0.0031 | 170 | c.457 others(185): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(163): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00733.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0061a0001c0001t0002g0062 | 3 | 410 | 0.0073 | 170 | c.-22 others(181): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(163): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0008 | a0008c0017 | a0008c0017t0002 | a0008c0017t0002g0029 | 1 | 284 | 0.0035 | 170 | c.411 others(187): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(163): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 NA18951.hp1 |
a0001a0004 | a0001c0004a0004c0008 | a0001c0004t0001a0001c0004t0003a0004c0008t0002 | a0001c0004t0001g0081a0001c0004t0003g0280a0004c0008t0002g0115 | 3 | 284 | 0.0106 | 170 | c.411 others(187): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293570 | C | CCACCTTC others(163): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0143 | 1 | 284 | 0.0035 | 170 | c.411 others(187): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CCN4_chr8_133186039_133236690 | 133213962 | C | CTATATAT others(163): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0184 | 2 | 396 | 0.0051 | 170 | c.349 others(185): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CCN4_chr8_133186039_133236690 | 133213998 | T | TATATACA others(163): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096a0001c0001t0005g0097 | 2 | 396 | 0.0051 | 170 | c.349 others(185): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84501834 | A | AAAATATA others(163): Show |
intron_variant | MODIFIER | HG00408.hp2 NA19076.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346a0001c0001t0001g0347a0001c0001t0001g0348 | 3 | 370 | 0.0081 | 170 | c.232 others(191): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84501840 | T | TATATATA others(163): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 370 | 0.0027 | 170 | c.232 others(191): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CD3G_chr11_118339344_118360161 | 118355852 | C | CATATGTG others(163): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 442 | 0.0023 | 170 | c.*27 others(181): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 692 | chr11 | TogoVar | ||||||
| CDH15_chr16_89166748_89200492 | 89192808 | T | TCGCCGCT others(163): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0161 | 1 | 406 | 0.0025 | 170 | c.185 others(187): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61944146 | A | ATGAGGAG others(163): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02922.hp1 HG03209.hp1 |
a0001 | a0001c0007 | a0001c0007t0010a0001c0007t0046 | a0001c0007t0010g0018a0001c0007t0010g0044a0001c0007t0046g0066 | 3 | 106 | 0.0283 | 170 | c.*72 others(181): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3530 | chr20 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132874287 | G | GCTGCCCT others(163): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(21): Show |
a0011a0017a0019others(12): Show | a0011c0010a0017c0026a0017c0094others(15): Show | a0011c0010t0001a0017c0026t0002a0017c0094t0001others(15): Show | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(21): Show | 24 | 246 | 0.0976 | 170 | c.436 others(189): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 31/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132874287 | G | GCTGCCCT others(163): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(72): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0003a0002c0023others(21): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(22): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(71): Show | 75 | 246 | 0.3049 | 170 | c.436 others(189): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 31/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132874599 | C | CATCAATA others(163): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(20): Show |
a0004a0005a0012others(9): Show | a0004c0005a0005c0013a0012c0025others(10): Show | a0004c0005t0001a0004c0005t0002a0005c0013t0001others(11): Show | a0004c0005t0001g0220a0004c0005t0001g0221a0004c0005t0001g0222others(20): Show | 23 | 246 | 0.0935 | 170 | c.436 others(189): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 31/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132874687 | G | GGAAAACA others(163): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0070 | a0070c0074 | a0070c0074t0002 | a0070c0074t0002g0006 | 1 | 246 | 0.0041 | 170 | c.436 others(189): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 31/57 | chr10 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(163): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0107 | 1 | 236 | 0.0042 | 170 | c.342 others(191): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFI_chr4_109735695_109806999 | 109753058 | A | ATTATATA others(163): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02897.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(5): Show | 8 | 354 | 0.0226 | 170 | c.905 others(185): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
| CFI_chr4_109735695_109806999 | 109753557 | A | AAATATTT others(163): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0296 | 1 | 354 | 0.0028 | 170 | c.905 others(187): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85911152 | T | TATATATG others(163): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 245 | 0.0041 | 170 | c.124 others(187): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85911164 | T | TATATATA others(163): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 245 | 0.0041 | 170 | c.124 others(185): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar |