| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS17_chr15_99966437_100346975 | 100071626 | TCCATCAT others(811): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01257.hp2 HG01258.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0001c0014others(11): Show | a0001c0002t0002a0001c0007t0002a0001c0007t0018others(17): Show | a0001c0002t0002g0169a0001c0007t0002g0057a0001c0007t0018g0046others(19): Show | 22 | 228 | 0.0965 | -818 | c.213 others(21): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318940 | GCACGCCT others(811): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03209.hp1 |
a0004a0011 | a0004c0006a0011c0025 | a0004c0006t0001a0011c0025t0014 | a0004c0006t0001g0000a0011c0025t0014g0000 | 2 | 406 | 0.0049 | -818 | c.*50 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4183 | chr6 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806835 | TTCCCTCC others(811): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 314 | 0.0032 | -818 | c.*26 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2549 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806835 | TTCCCTCC others(811): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0114 | 1 | 319 | 0.0031 | -818 | c.-24 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2357 | chr2 | TogoVar | ||||||
| OSBPL2_chr20_62233521_62301183 | 62294456 | TAATGTAA others(811): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0146 | 1 | 348 | 0.0029 | -818 | c.*57 others(10): Show |
OSBPL2 | ENSG00000130703.17 | transcript | ENST00000313733.9 | protein_coding | 14/14 | 573 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
| BCL2L13_chr22_17633757_17735855 | 17645914 | AATACAAA others(810): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0042 | a0001c0002t0012g0003a0001c0002t0012g0004a0001c0002t0012g0305others(2): Show | 5 | 306 | 0.0163 | -817 | c.-51 others(17): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | chr22 | TogoVar | ||||||
| C8A_chr1_56849797_56923223 | 56919146 | TCCTTGAA others(810): Show |
T | downstream_gene_variant | MODIFIER | HG02735.hp2 HG03669.hp2 HG04228.hp1 |
a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0052a0007c0007t0004g0054a0007c0007t0004g0056 | 3 | 366 | 0.0082 | -817 | c.*14 others(11): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 924 | chr1 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 419504 | CTGTGTGT others(810): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02080.hp1 HG03139.hp2 others(14): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0151a0001c0001t0001g0185a0001c0001t0001g0367others(14): Show | 17 | 432 | 0.0394 | -817 | c.413 others(16): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ECRG4_chr2_106060688_106083155 | 106078621 | ATTTGGGT others(810): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(182): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0018others(137): Show | 185 | 434 | 0.4263 | -817 | c.*69 others(10): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 467 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805524 | CTCCCCCC others(810): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0157 | 1 | 319 | 0.0031 | -817 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3668 | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1093913 | TTGCAGGC others(810): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(105): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0002c0003others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(29): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0024others(105): Show | 108 | 190 | 0.5684 | -817 | c.211 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1628124 | ATGAGGCG others(810): Show |
A | intron_variant | MODIFIER | HG00438.hp1 NA18952.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0032 | a0001c0003t0002g0245a0001c0003t0032g0237 | 2 | 352 | 0.0057 | -817 | c.299 others(16): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393416 | GGGGAAGG others(810): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01517.hp2 HG01952.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0015 | a0001c0001t0001a0001c0001t0020a0001c0001t0107others(4): Show | a0001c0001t0001g0163a0001c0001t0020g0328a0001c0001t0107g0152others(4): Show | 7 | 346 | 0.0202 | -817 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393863 | GGGCAGGT others(810): Show |
G | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0325 | 1 | 346 | 0.0029 | -817 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624668 | GGTTCACG others(809): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(69): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0057others(69): Show | 72 | 246 | 0.2927 | -816 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105232207 | GCAGCCCT others(809): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 72 | 0.0139 | -816 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 167405 | CATGGTCT others(809): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134a0001c0001t0001g0153 | 2 | 339 | 0.0059 | -816 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(809): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 350 | 0.0029 | -816 | c.*23 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50344053 | CCCCCCCC others(809): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA19086.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0010 | a0001c0001t0007g0213a0001c0003t0010g0214 | 2 | 340 | 0.0059 | -816 | c.-14 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SLC12A7_chr5_1045384_1117063 | 1070473 | GCCCCAGT others(809): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0084 | 1 | 118 | 0.0085 | -816 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974581 | CAGGGAAA others(809): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02056.hp1 HG02165.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0075a0001c0001t0002g0066a0001c0001t0002g0085others(2): Show | 5 | 150 | 0.0333 | -816 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245976209 | GGCCCAGG others(809): Show |
G | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 150 | 0.0067 | -816 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827600 | GCTACTGC others(809): Show |
G | intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0139 | 1 | 200 | 0.0050 | -816 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827636 | GGGGCATC others(809): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0106 | 1 | 200 | 0.0050 | -816 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827648 | CCTACCGC others(809): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0148 | 1 | 200 | 0.0050 | -816 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393437 | GGGAAGCC others(809): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0138 | a0001c0001t0138g0173 | 1 | 346 | 0.0029 | -816 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105236294 | CGTGGCAC others(808): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0043 | 2 | 72 | 0.0278 | -815 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132232859 | CAGAGGAG others(808): Show |
C | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0108 | 1 | 183 | 0.0055 | -815 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| MTA3_chr2_42563632_42761946 | 42700838 | TGCCTGTA others(808): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 312 | 0.0032 | -815 | c.102 others(19): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PRKN_chr6_161342417_162732766 | 162304064 | TCATTACC others(808): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG03209.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0009 | a0001c0003t0001g0032a0002c0002t0009g0008 | 2 | 32 | 0.0625 | -815 | c.172 others(19): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 8640847 | CAAGATAA others(808): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02055.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0023others(5): Show | a0001c0001t0001g0004a0001c0001t0002g0018a0001c0003t0023g0031others(5): Show | 8 | 34 | 0.2353 | -815 | c.65- others(15): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | ||||||
| TBXA2R_chr19_3589507_3611875 | 3601992 | CGGGCGGA others(808): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 428 | 0.0023 | -815 | c.-83 others(17): Show |
TBXA2R | ENSG00000006638.13 | transcript | ENST00000375190.10 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
| TBXA2R_chr19_3589507_3611875 | 3602097 | TGTAGTCC others(808): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0258 | 1 | 428 | 0.0023 | -815 | c.-83 others(17): Show |
TBXA2R | ENSG00000006638.13 | transcript | ENST00000375190.10 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
| TPSB2_chr16_1223336_1235184 | 1232367 | CCACGTGG others(808): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG03579.hp2 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0002a0005c0005t0005 | a0001c0001t0001g0001a0003c0003t0002g0003a0005c0005t0005g0021 | 4 | 344 | 0.0116 | -815 | c.-30 others(11): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 2184 | chr16 | TogoVar | ||||||
| USP42_chr7_6099949_6166564 | 6100063 | GGCTGGTC others(808): Show |
G | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 394 | 0.0025 | -815 | c.-49 others(11): Show |
USP42 | ENSG00000106346.12 | transcript | ENST00000306177.10 | protein_coding | 4885 | chr7 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46293100 | TCCCGCGG others(808): Show |
T | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 404 | 0.0025 | -815 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| YWHAE_chr17_1339275_1405222 | 1350709 | TGGGATTA others(808): Show |
T | intron_variant | MODIFIER | HG02129.hp1 HG02132.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291a0001c0001t0001g0298a0001c0001t0001g0317 | 3 | 373 | 0.0080 | -815 | c.715 others(17): Show |
YWHAE | ENSG00000108953.17 | transcript | ENST00000264335.13 | protein_coding | 5/5 | chr17 | TogoVar | ||||||
| ANO7_chr2_241183677_241230976 | 241205485 | CACAGGTG others(807): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
a0001a0005a0006others(9): Show | a0001c0001a0001c0008a0001c0014others(20): Show | a0001c0001t0001a0001c0001t0025a0001c0008t0004others(28): Show | a0001c0001t0001g0010a0001c0001t0001g0123a0001c0001t0001g0149others(79): Show | 85 | 396 | 0.2147 | -814 | c.980 others(16): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(807): Show |
T | intron_variant | MODIFIER | HG00639.hp1 NA19043.hp1 |
a0002a0003 | a0002c0004a0003c0006 | a0002c0004t0005a0003c0006t0002 | a0002c0004t0005g0133a0003c0006t0002g0138 | 2 | 248 | 0.0081 | -814 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DIAPH3_chr13_59660583_60168928 | 59943271 | GTAACTAA others(807): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0131 | 1 | 208 | 0.0048 | -814 | c.207 others(21): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 17/27 | chr13 | TogoVar | ||||||
| SYNDIG1_chr20_24464629_24671616 | 24476187 | TTTTTCTT others(807): Show |
T | intron_variant | MODIFIER | NA18940.hp2 NA18947.hp2 NA18957.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0044a0001c0001t0001g0069a0001c0001t0001g0070others(4): Show | 7 | 270 | 0.0259 | -814 | c.-79 others(17): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TRAF7_chr16_2150782_2183129 | 2162226 | GGGCCTGG others(807): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 320 | 0.0031 | -814 | c.-38 others(16): Show |
TRAF7 | ENSG00000131653.14 | transcript | ENST00000326181.11 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TSBP1_chr6_32287698_32376903 | 32347655 | GATGAAAA others(807): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 421 | 0.0024 | -814 | c.280 others(17): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 9/25 | chr6 | TogoVar | ||||||
| UGT2B28_chr4_69275475_69300050 | 69280247 | TAAAACAG others(807): Show |
T | frameshift_variant others(1): Show |
HIGH | NA18990.hp1 | a0011 | a0011c0017 | a0011c0017t0003 | a0011c0017t0003g0002 | 1 | 259 | 0.0039 | -814 | c.-25 others(8): Show |
p.Met others(3): Show |
UGT2B28 | ENSG00000135226.18 | transcript | ENST00000335568.10 | protein_coding | 1/6 | 1/1590 | 1/529 | chr4 | TogoVar | |||
| VGLL4_chr3_11551069_11648915 | 11604262 | AAGCACGG others(807): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA20905.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0013a0004c0012t0001 | a0001c0001t0013g0103a0004c0012t0001g0003 | 2 | 388 | 0.0052 | -814 | c.83- others(15): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292527 | TGTGCCCG others(807): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 404 | 0.0050 | -814 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50343964 | CCCCCAGT others(806): Show |
C | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0314 | 1 | 340 | 0.0029 | -813 | c.-14 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ROR2_chr9_91717601_91955228 | 91796919 | TGGCTCTG others(806): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0216 | 1 | 226 | 0.0044 | -813 | c.98- others(17): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
| USP49_chr6_41784896_41900375 | 41853140 | GGCGCCAT others(806): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 384 | 0.0026 | -813 | c.-29 others(19): Show |
USP49 | ENSG00000164663.15 | transcript | ENST00000682992.1 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
| ANKRD18B_chr9_33519251_33578013 | 33573403 | TAGATCGG others(805): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(54): Show |
a0002a0006a0022 | a0002c0002a0002c0019a0002c0028others(2): Show | a0002c0002t0003a0002c0002t0005a0002c0019t0005others(3): Show | a0002c0002t0003g0024a0002c0002t0003g0141a0002c0002t0003g0145others(49): Show | 57 | 374 | 0.1524 | -812 | c.*97 others(10): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 391 | chr9 | TogoVar |