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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM227B_chr15_49321970_49625818 | 49417669 | CTAAAGAT others(4): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02738.hp2 HG03017.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0018a0003c0004t0014 | a0001c0001t0018g0241a0003c0004t0014g0288a0003c0004t0014g0289 | 3 | 294 | 0.0102 | -11 | c.101 others(32): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49489849 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02132.hp2 HG03942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0030a0001c0001t0001g0192a0001c0001t0002g0193others(3): Show | 6 | 294 | 0.0204 | -11 | c.101 others(32): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49588590 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0256 | 2 | 294 | 0.0068 | -11 | c.338 others(26): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 4/15 | chr15 | TogoVar | ||||||
FAM228A_chr2_24170053_24196698 | 24174649 | CAGTGGGA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00735.hp1 others(58): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(4): Show | a0002c0002t0003g0002a0002c0002t0003g0005a0002c0002t0003g0017others(13): Show | 61 | 346 | 0.1763 | -11 | c.-53 others(20): Show |
FAM228A | ENSG00000186453.13 | transcript | ENST00000295150.8 | protein_coding | 403 | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24155521 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 290 | 0.0035 | -11 | c.687 others(28): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM228B_chr2_24118469_24174638 | 24155525 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01175.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0012 | a0001c0001t0001a0001c0011t0001a0004c0012t0001 | a0001c0001t0001g0121a0001c0001t0001g0146a0001c0001t0001g0152others(5): Show | 8 | 290 | 0.0276 | -11 | c.687 others(28): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM228B_chr2_24118469_24174638 | 24155527 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG00642.hp2 NA18984.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0177a0001c0001t0001g0259 | 3 | 290 | 0.0103 | -11 | c.687 others(28): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM229A_chr1_32356270_32367485 | 32360884 | AGATAGAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007 | 2 | 296 | 0.0068 | -11 | c.*53 others(20): Show |
FAM229A | ENSG00000225828.2 | transcript | ENST00000432622.2 | protein_coding | 385 | chr1 | TogoVar | ||||||
FAM229B_chr6_112082591_112107790 | 112104964 | TATATTCT others(4): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 418 | 0.0024 | -11 | c.*41 others(22): Show |
FAM229B | ENSG00000203778.8 | transcript | ENST00000368656.7 | protein_coding | 2175 | chr6 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 234078 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 408 | 0.0025 | -11 | c.-91 others(20): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 742 | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 238765 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03831.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101 | 2 | 408 | 0.0049 | -11 | c.-14 others(30): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 238776 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG03209.hp2 |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0362a0001c0006t0006g0363 | 2 | 408 | 0.0049 | -11 | c.-14 others(30): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 240927 | TTTAAAAC others(4): Show |
T | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 408 | 0.0025 | -11 | c.-14 others(30): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM236A_chrX_72933206_72943958 | 72943861 | GGAGGAGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 158 | 0.0063 | -11 | c.*50 others(22): Show |
FAM236A | ENSG00000275520.2 | transcript | ENST00000611003.2 | protein_coding | 4904 | chrX | TogoVar | ||||||
FAM240A_chr3_46607525_46631543 | 46622106 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 438 | 0.0023 | -11 | c.162 others(28): Show |
FAM240A | ENSG00000283473.5 | transcript | ENST00000640551.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FAM246A_chr22_21355601_21366299 | 21364222 | GGGGCTGT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0007a0001c0010 | a0001c0007t0000a0001c0010t0000 | a0001c0007t0000g0000a0001c0010t0000g0000 | 6 | 416 | 0.0144 | -11 | c.-29 others(22): Show |
FAM246A | ENSG00000286102.1 | transcript | ENST00000652479.1 | protein_coding | 2924 | chr22 | TogoVar | ||||||
FAM246B_chr22_18628984_18639682 | 18631046 | GGCCCAGG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 1 | 33 | 0.0303 | -11 | c.-29 others(22): Show |
FAM246B | ENSG00000286175.1 | transcript | ENST00000652395.1 | protein_coding | 2937 | chr22 | TogoVar | ||||||
FAM25G_chr10_47482219_47496700 | 47495278 | TTATTATT others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 424 | 0.0024 | -11 | c.-36 others(22): Show |
FAM25G | ENSG00000189090.8 | transcript | ENST00000452267.2 | protein_coding | 3579 | chr10 | TogoVar | ||||||
FAM25G_chr10_47482219_47496700 | 47495280 | ATTATTAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(122): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(24): Show | 125 | 424 | 0.2948 | -11 | c.-36 others(22): Show |
FAM25G | ENSG00000189090.8 | transcript | ENST00000452267.2 | protein_coding | 3581 | chr10 | TogoVar | ||||||
FAM3A_chrX_154501171_154521232 | 154505416 | ACTGGCAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp1 HG06807.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 3 | 339 | 0.0089 | -11 | c.*13 others(22): Show |
FAM3A | ENSG00000071889.17 | transcript | ENST00000447601.7 | protein_coding | 754 | chrX | TogoVar | ||||||
FAM3B_chr21_41311801_41362727 | 41347749 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01255.hp1 others(39): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0110a0001c0001t0001g0121others(38): Show | 42 | 314 | 0.1338 | -11 | c.485 others(26): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
FAM43B_chr1_20547573_20560020 | 20550649 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG02602.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0007g0000others(1): Show | 16 | 464 | 0.0345 | -11 | c.-23 others(22): Show |
FAM43B | ENSG00000183114.8 | transcript | ENST00000332947.6 | protein_coding | 1923 | chr1 | TogoVar | ||||||
FAM43B_chr1_20547573_20560020 | 20557872 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 464 | 0.0022 | -11 | c.*39 others(22): Show |
FAM43B | ENSG00000183114.8 | transcript | ENST00000332947.6 | protein_coding | 2853 | chr1 | TogoVar | ||||||
FAM43B_chr1_20547573_20560020 | 20559723 | GTGTGTGT others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 464 | 0.0022 | -11 | c.*57 others(22): Show |
FAM43B | ENSG00000183114.8 | transcript | ENST00000332947.6 | protein_coding | 4704 | chr1 | TogoVar | ||||||
FAM47B_chrX_34937796_34949915 | 34941643 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03195.hp1 HG03516.hp1 |
a0006a0018 | a0006c0008a0018c0021 | a0006c0008t0002a0018c0021t0002 | a0006c0008t0002g0000a0018c0021t0002g0000 | 3 | 331 | 0.0091 | -11 | c.-11 others(22): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1152 | chrX | TogoVar | ||||||
FAM50A_chrX_154439141_154455654 | 154451578 | CCTTCCTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp1 HG03453.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008 | 5 | 275 | 0.0182 | -11 | c.*11 others(22): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 925 | chrX | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1672759 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0321 | 1 | 350 | 0.0029 | -11 | c.-16 others(30): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
FAM76A_chr1_27720961_27768116 | 27737868 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 264 | 0.0038 | -11 | c.354 others(28): Show |
FAM76A | ENSG00000009780.16 | transcript | ENST00000373954.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FAM78A_chr9_131253078_131281510 | 131256310 | ACACACAC others(4): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 418 | 0.0024 | -11 | c.*45 others(22): Show |
FAM78A | ENSG00000126882.14 | transcript | ENST00000372271.4 | protein_coding | 1767 | chr9 | TogoVar | ||||||
FAM78B_chr1_166064299_166172001 | 166149262 | AAACAAAC others(4): Show |
A | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0133 | 1 | 318 | 0.0031 | -11 | c.263 others(30): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59510777 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01993.hp2 HG02735.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0056a0001c0002t0004g0247 | 2 | 374 | 0.0054 | -11 | c.650 others(28): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FAM81A_chr15_59433186_59528555 | 59526227 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0180a0001c0002t0007g0229 | 2 | 374 | 0.0054 | -11 | c.*48 others(22): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 2673 | chr15 | TogoVar | ||||||
FAM83B_chr6_54841771_54950099 | 54901245 | GTGTTCTT others(4): Show |
G | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 272 | 0.0037 | -11 | c.445 others(30): Show |
FAM83B | ENSG00000168143.9 | transcript | ENST00000306858.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM83D_chr20_38921417_38958106 | 38955475 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0012 | a0012c0021 | a0012c0021t0004 | a0012c0021t0004g0127 | 1 | 342 | 0.0029 | -11 | c.*29 others(22): Show |
FAM83D | ENSG00000101447.15 | transcript | ENST00000619850.2 | protein_coding | 2370 | chr20 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48602701 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0284 | 1 | 414 | 0.0024 | -11 | c.117 others(28): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48602703 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp1 NA19030.hp2 |
a0001a0002 | a0001c0003a0002c0016 | a0001c0003t0020a0002c0016t0003 | a0001c0003t0020g0167a0001c0003t0020g0168a0002c0016t0003g0249 | 3 | 414 | 0.0073 | -11 | c.117 others(28): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48602705 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG01515.hp1 others(20): Show |
a0001a0002a0003 | a0001c0003a0001c0008a0002c0001others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(9): Show | a0001c0003t0001g0369a0001c0003t0002g0162a0001c0003t0002g0384others(19): Show | 23 | 414 | 0.0556 | -11 | c.117 others(28): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
FAM83E_chr19_48594961_48620076 | 48605019 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19001.hp1 | a0003 | a0003c0002 | a0003c0002t0027 | a0003c0002t0027g0063 | 1 | 414 | 0.0024 | -11 | c.759 others(28): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 5/6 | chr19 | TogoVar | ||||||
FAM83F_chr22_39989954_40048534 | 40007439 | TCTCCTCT others(4): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00733.hp1 others(43): Show |
a0001a0009a0011 | a0001c0001a0009c0007a0011c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0120a0001c0001t0003g0008a0001c0001t0003g0066others(42): Show | 46 | 234 | 0.1966 | -11 | c.490 others(30): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM83F_chr22_39989954_40048534 | 40007527 | TCTCCTCC others(4): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 234 | 0.0043 | -11 | c.490 others(30): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM86B2_chr8_12419421_12441400 | 12420001 | CTAATTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0002 | 1 | 50 | 0.0200 | -11 | c.*58 others(22): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4419 | chr8 | TogoVar | ||||||
FAM90A17_chr8_7741034_7754044 | 7747644 | CAACACGT others(4): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0008 | a0008c0007 | a0008c0007t0000 | a0008c0007t0000g0046 | 1 | 108 | 0.0093 | -11 | c.432 others(26): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
FAM9B_chrX_9019232_9039127 | 9021420 | ATTATATA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0018 | 1 | 258 | 0.0039 | -11 | c.*39 others(22): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2811 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022784 | TTATGTAT others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 258 | 0.0039 | -11 | c.*26 others(22): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1447 | chrX | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30903215 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0228 | 1 | 303 | 0.0033 | -11 | c.-94 others(20): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 699 | chr15 | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30907521 | AAAAAACA others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00733.hp2 others(52): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0003c0005others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0004g0010a0001c0001t0004g0040a0001c0001t0004g0077others(41): Show | 55 | 303 | 0.1815 | -11 | c.123 others(28): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FAN1_chr15_30898915_30948108 | 30929556 | ATATTATA others(4): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 | 1 | 303 | 0.0033 | -11 | c.278 others(28): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANCA_chr16_89732549_89821647 | 89750164 | TACTACTT others(4): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0304 | 1 | 334 | 0.0030 | -11 | c.306 others(28): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 31/42 | chr16 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89756762 | AAGGCTGA others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG02145.hp2 others(11): Show |
a0006a0040a0041 | a0006c0007a0006c0055a0006c0056others(2): Show | a0006c0007t0004a0006c0007t0009a0006c0055t0009others(3): Show | a0006c0007t0004g0310a0006c0007t0004g0311a0006c0007t0004g0313others(11): Show | 14 | 334 | 0.0419 | -11 | c.298 others(30): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 30/42 | chr16 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89808602 | TTCTCTTC others(4): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 334 | 0.0030 | -11 | c.523 others(26): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 5/42 | chr16 | TogoVar |