| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ERVV-2_chr19_53039740_53056680 | 53054882 | GTGTTCTA others(839): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02976.hp2 |
a0002 | a0002c0010 | a0002c0010t0050a0002c0010t0051 | a0002c0010t0050g0034a0002c0010t0051g0034 | 2 | 446 | 0.0045 | -846 | c.*40 others(11): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 3203 | chr19 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43496047 | AGGTGGTG others(839): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 250 | 0.0040 | -846 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50343869 | GCCCCCCA others(839): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(82): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0024others(22): Show | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0234others(82): Show | 85 | 340 | 0.2500 | -846 | c.-14 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744055 | CCCTGGCT others(839): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0088 | a0001c0088t0007 | a0001c0088t0007g0141 | 1 | 196 | 0.0051 | -846 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1086419 | GTTGTTGT others(838): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 162 | 0.0062 | -845 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50343870 | CCCCCCAG others(838): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0338 | 1 | 340 | 0.0029 | -845 | c.-14 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| VPS53_chr17_503668_719839 | 505701 | GAGATCAG others(838): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG02074.hp2 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0011others(3): Show | a0001c0002t0010a0001c0002t0043a0001c0005t0010others(10): Show | a0001c0002t0010g0057a0001c0002t0010g0087a0001c0002t0043g0064others(13): Show | 16 | 232 | 0.0690 | -845 | c.*12 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2966 | chr17 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1401553 | TGTCCTCC others(837): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | -844 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085552 | CATGATCT others(837): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0016 | a0016c0073 | a0016c0073t0001 | a0016c0073t0001g0280 | 1 | 403 | 0.0025 | -844 | c.164 others(18): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | ||||||
| CFDP1_chr16_75288710_75438503 | 75395947 | TCCCTGCC others(836): Show |
T | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 314 | 0.0032 | -843 | c.531 others(16): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806575 | TCCCCCCT others(836): Show |
T | downstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 314 | 0.0032 | -843 | c.*24 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2289 | chr2 | TogoVar | ||||||
| MACROD2_chr20_13990516_16058197 | 15730898 | TGACTAAA others(836): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 24 | 0.0417 | -843 | c.646 others(21): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 8/17 | chr20 | TogoVar | ||||||
| PIAS1_chr15_68049315_68198847 | 68125981 | GAGCCACT others(836): Show |
G | intron_variant | MODIFIER | HG00558.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085a0001c0001t0003g0086 | 2 | 260 | 0.0077 | -843 | c.470 others(19): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ABR_chr17_998519_1184981 | 1117492 | TCCTCCCC others(835): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 337 | 0.0030 | -842 | c.246 others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
| CFDP1_chr16_75288710_75438503 | 75395933 | GGAGAAAT others(835): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(130): Show | 133 | 314 | 0.4236 | -842 | c.531 others(16): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1089938 | GTTGTTGT others(835): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0141 | a0001c0001t0141g0002 | 1 | 162 | 0.0062 | -842 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| LRRC24_chr8_144517388_144532033 | 144531191 | AGAGCAGC others(835): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02809.hp1 others(4): Show |
a0001a0008 | a0001c0003a0008c0014 | a0001c0003t0001a0008c0014t0001 | a0001c0003t0001g0010a0001c0003t0001g0013a0008c0014t0001g0041 | 7 | 398 | 0.0176 | -842 | c.-51 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
| NPIPB7_chr16_28451329_28477336 | 28455757 | GCCTCGGC others(835): Show |
G | frameshift_variant others(4): Show |
HIGH | NA18993.hp1 | a0000 | a0000c0044 | a0000c0044t0056 | a0000c0044t0056g0243 | 1 | 382 | 0.0026 | -842 | c.107 others(9): Show |
p.Val others(5): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 1070/1245 | 357/414 | chr16 | TogoVar | |||
| P2RX5_chr17_3668227_3701155 | 3685658 | CCCAGCCT others(835): Show |
C | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 362 | 0.0028 | -842 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135180 | CCCGAGTA others(834): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0051 | 1 | 334 | 0.0030 | -841 | c.*32 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1413 | chr12 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685659 | CCAGCCTG others(834): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG04199.hp1 NA19066.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0002a0001c0007t0001a0002c0002t0002 | a0001c0001t0002g0008a0001c0007t0001g0282a0002c0002t0002g0125 | 4 | 362 | 0.0111 | -841 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934064 | AGGGGAGG others(834): Show |
A | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0055 | 1 | 434 | 0.0023 | -841 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1236848 | CCCTCCCG others(833): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 106 | 0.0094 | -840 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238372 | CCCTGCAT others(833): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0040 | 1 | 106 | 0.0094 | -840 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| AHI1_chr6_135278532_135502740 | 135484002 | TTAATGGA others(833): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0021 | a0001c0021t0010 | a0001c0021t0010g0181 | 1 | 220 | 0.0046 | -840 | c.135 others(17): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077283 | TCTATGGG others(833): Show |
T | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 326 | 0.0031 | -840 | c.*47 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4539 | chr1 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89647564 | AGACCCAG others(833): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034a0001c0001t0004g0035 | 2 | 392 | 0.0051 | -840 | c.252 others(15): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135110 | CCCGAGTG others(833): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0004 | a0004c0004t0023 | a0004c0004t0023g0080 | 1 | 334 | 0.0030 | -840 | c.*33 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1483 | chr12 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1350326 | AGGAGCGA others(833): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01496.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0143a0001c0020t0001g0101 | 2 | 344 | 0.0058 | -840 | c.-21 others(11): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 909 | chr1 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79886187 | AGGGAGAT others(833): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0297 | 1 | 312 | 0.0032 | -840 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1991229 | ACCGCTGG others(833): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02809.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0006t0001a0001c0007t0004 | a0001c0001t0001g0077a0001c0001t0001g0081a0001c0001t0001g0151others(7): Show | 10 | 264 | 0.0379 | -840 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2034449 | AACAATCT others(833): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0025 | a0001c0003t0001a0001c0004t0013a0001c0025t0005 | a0001c0003t0001g0094a0001c0004t0013g0033a0001c0004t0013g0044others(1): Show | 4 | 104 | 0.0385 | -840 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077283 | TCTATGGG others(833): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 324 | 0.0031 | -840 | c.-41 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2978 | chr1 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 933980 | AGGGGAGG others(833): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 434 | 0.0023 | -840 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934064 | AGGGGAGG others(833): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(131): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(101): Show | 134 | 434 | 0.3088 | -840 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 245974557 | CAGGGAAA others(833): Show |
C | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0091 | 1 | 150 | 0.0067 | -840 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974605 | CAGGGAAA others(833): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 150 | 0.0067 | -840 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245976093 | CAGGGAAA others(833): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 150 | 0.0067 | -840 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129855669 | GAACGGGA others(833): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0009 | a0001c0002t0001g0010a0002c0003t0009g0017 | 2 | 94 | 0.0213 | -840 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393393 | GGGGAAGG others(833): Show |
G | intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0003 | a0002c0003t0192 | a0002c0003t0192g0204 | 1 | 346 | 0.0029 | -840 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79886223 | GGGGACAT others(832): Show |
G | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0281 | 1 | 312 | 0.0032 | -839 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| TCF25_chr16_89868592_89916379 | 89901875 | TGGGCCTC others(832): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0267 | 1 | 300 | 0.0033 | -839 | c.138 others(19): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSM5_chr16_20404534_20446336 | 20439798 | AGGTGGTA others(831): Show |
A | exon_loss_variant | HIGH | NA20805.hp1 | a0000 | a0000c0031 | a0000c0031t0017 | a0000c0031t0017g0352 | 1 | 434 | 0.0023 | -838 | c.153 others(11): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 13/14 | chr16 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128439 | CATCTCGG others(831): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010 | a0001c0001t0004g0192a0001c0001t0007g0118a0001c0001t0010g0119 | 3 | 326 | 0.0092 | -838 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89781478 | CCTGGATA others(831): Show |
C | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 334 | 0.0030 | -838 | c.162 others(18): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 17/42 | chr16 | TogoVar | ||||||
| RBM23_chr14_22888204_22924149 | 22902625 | TGCAAAAT others(831): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0005 | a0002c0005t0026 | a0002c0005t0026g0248 | 1 | 362 | 0.0028 | -838 | c.930 others(15): Show |
RBM23 | ENSG00000100461.18 | transcript | ENST00000359890.8 | protein_coding | 10/13 | chr14 | TogoVar | ||||||
| SGK1_chr6_134164256_134323112 | 134282514 | ATGGTGGC others(831): Show |
A | intron_variant | MODIFIER | HG03139.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0180a0001c0001t0005g0181 | 2 | 250 | 0.0080 | -838 | c.70- others(17): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
| SULT1C3_chr2_108234968_108265886 | 108238974 | TTCCTAAA others(831): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(80): Show |
a0003a0004a0006others(5): Show | a0003c0002a0003c0031a0004c0005others(7): Show | a0003c0002t0004a0003c0031t0004a0004c0005t0001others(8): Show | a0003c0002t0004g0002a0003c0002t0004g0009a0003c0002t0004g0014others(38): Show | 83 | 376 | 0.2207 | -838 | c.-11 others(10): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 993 | chr2 | TogoVar | ||||||
| TRAPPC9_chr8_139722725_140462744 | 140442491 | GGGAGGCT others(831): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0028 | a0001c0004t0028g0098 | 1 | 98 | 0.0102 | -838 | c.585 others(17): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 2/22 | chr8 | TogoVar | ||||||
| ZFP1_chr16_75143524_75177234 | 75146445 | GCGTGAGC others(831): Show |
G | upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0084 | 1 | 364 | 0.0028 | -838 | c.-22 others(11): Show |
ZFP1 | ENSG00000184517.12 | transcript | ENST00000570010.6 | protein_coding | 2078 | chr16 | TogoVar |