| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| B3GNTL1_chr17_82937149_83056770 | 83032085 | AGGTCAGA others(152): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 266 | 0.0038 | -159 | c.297 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| BAP1_chr3_52396008_52415008 | 52404601 | AGGGCAGT others(152): Show |
A | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 348 | 0.0029 | -159 | c.111 others(16): Show |
BAP1 | ENSG00000163930.10 | transcript | ENST00000460680.6 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105275971 | TGAGAGGG others(152): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 72 | 0.0139 | -159 | c.266 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105277038 | CGGCCCTC others(152): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 72 | 0.0139 | -159 | c.266 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BTBD19_chr1_44803523_44820585 | 44816354 | ATATACAC others(152): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0017 | 1 | 436 | 0.0023 | -159 | c.*25 others(11): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 770 | chr1 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1080682 | CCCCCACC others(152): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0100 | 1 | 326 | 0.0031 | -159 | c.*20 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1140 | chr1 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404377 | TCTGAGGG others(152): Show |
T | downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | -159 | c.*25 others(11): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1067 | chr19 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2105689 | CGGGGAGG others(152): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 104 | 0.0096 | -159 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53922664 | CCCAGGCT others(152): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp1 HG02027.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0198others(6): Show | 9 | 364 | 0.0247 | -159 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CANT1_chr17_78986716_79014764 | 79004465 | GGAGGGGA others(152): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0228a0001c0002t0003g0231 | 2 | 394 | 0.0051 | -159 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CANT1_chr17_78986716_79014764 | 79004912 | AGGGGAGC others(152): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01433.hp2 HG01515.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0002a0001c0002t0006a0001c0003t0002others(1): Show | a0001c0002t0002g0013a0001c0002t0002g0097a0001c0002t0002g0100others(6): Show | 13 | 394 | 0.0330 | -159 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CCDC38_chr12_95862048_95947614 | 95908522 | AGAGGGAG others(152): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02015.hp2 NA19087.hp2 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0258a0003c0006t0002g0259a0003c0006t0002g0263 | 3 | 350 | 0.0086 | -159 | c.305 others(17): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | ||||||
| CCZ1B_chr7_6793937_6831275 | 6818553 | AAGAAAGA others(152): Show |
A | intron_variant | MODIFIER | HG03540.hp2 HG04228.hp2 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0006a0001c0009t0004 | a0001c0005t0006g0187a0001c0009t0004g0109 | 2 | 354 | 0.0057 | -159 | c.698 others(17): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 7/14 | chr7 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61945458 | CCTTTCTG others(152): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01123.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0032a0001c0001t0002g0007others(8): Show | 11 | 106 | 0.1038 | -159 | c.*85 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4842 | chr20 | TogoVar | ||||||
| CEP120_chr5_123339892_123428403 | 123348315 | TATCTTTA others(152): Show |
T | intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 376 | 0.0027 | -159 | c.272 others(19): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 19/19 | chr5 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1029046 | CAGCTCAG others(152): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0141 | 1 | 390 | 0.0026 | -159 | c.64- others(15): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CNST_chr1_246561456_246673595 | 246620386 | GTCGTGCA others(152): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0161 | 1 | 320 | 0.0031 | -159 | c.380 others(16): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COLGALT1_chr19_17550649_17588157 | 17563216 | TGTCTCAC others(152): Show |
T | intron_variant | MODIFIER | NA19054.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0206a0001c0001t0033g0207 | 2 | 396 | 0.0051 | -159 | c.489 others(17): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CSF2RA_chrX_1263814_1314935 | 1297660 | TAACCCTA others(152): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 159 | 0.0063 | -159 | c.810 others(17): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DACH1_chr13_71432966_71872204 | 71734129 | ATATACCC others(152): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG02683.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0040others(7): Show | 10 | 102 | 0.0980 | -159 | c.849 others(19): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| DHH_chr12_49081656_49099801 | 49095436 | TCTCAGTT others(152): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0033 | a0001c0001t0001g0102a0001c0001t0002g0101a0001c0001t0002g0106others(1): Show | 4 | 424 | 0.0094 | -159 | c.-10 others(10): Show |
DHH | ENSG00000139549.4 | transcript | ENST00000649637.2 | protein_coding | 636 | chr12 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 401446 | GTTACTAT others(152): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0011 | 1 | 88 | 0.0114 | -159 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 840525 | GCCTGCAC others(152): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG01496.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0022a0001c0002t0023a0001c0003t0001others(4): Show | a0001c0002t0022g0034a0001c0002t0023g0005a0001c0003t0001g0026others(4): Show | 7 | 40 | 0.1750 | -159 | c.19- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1016390 | TGCCTCCA others(152): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 40 | 0.0250 | -159 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNHD1_chr11_6492280_6577020 | 6551864 | CAGGGAGG others(152): Show |
C | intron_variant | MODIFIER | HG04228.hp2 NA18983.hp1 NA19012.hp1 others(1): Show |
a0024a0026 | a0024c0020a0026c0021 | a0024c0020t0001a0026c0021t0001 | a0024c0020t0001g0007a0026c0021t0001g0266a0026c0021t0001g0302 | 4 | 342 | 0.0117 | -159 | c.738 others(19): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 24/42 | chr11 | TogoVar | ||||||
| DYNC1LI1_chr3_32520974_32575858 | 32537889 | TTTATATA others(152): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02630.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0048a0001c0001t0010g0049a0001c0001t0010g0050others(1): Show | 4 | 336 | 0.0119 | -159 | c.739 others(15): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99927946 | TGGTGGTG others(152): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0061 | 1 | 288 | 0.0035 | -159 | c.190 others(19): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ERFL_chr19_41902704_41933449 | 41914736 | CATCTCTG others(152): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 330 | 0.0030 | -159 | c.-13 others(17): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ESYT2_chr7_158725997_158834509 | 158729486 | GGGGGAGG others(152): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0320 | 1 | 370 | 0.0027 | -159 | c.*45 others(11): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1510 | chr7 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360821 | CACCTCCA others(152): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0063 | 1 | 230 | 0.0044 | -159 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89361935 | CACCTCCA others(152): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0051 | 1 | 230 | 0.0044 | -159 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805206 | ACCTTCCC others(152): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 314 | 0.0032 | -159 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 920 | chr2 | TogoVar | ||||||
| GARIN5A_chr19_50461788_50481848 | 50473003 | TGAGATCC others(152): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 414 | 0.0024 | -159 | c.539 others(17): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| GGT5_chr22_24214660_24250082 | 24238766 | TATATATA others(152): Show |
T | intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0030 | a0003c0030t0003 | a0003c0030t0003g0371 | 1 | 420 | 0.0024 | -159 | c.174 others(17): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
| GRIN2A_chr16_9748408_10187428 | 9848683 | TTTTAAAT others(152): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01496.hp2 HG01884.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0033a0001c0002t0001g0030a0001c0002t0001g0155others(16): Show | 19 | 168 | 0.1131 | -159 | c.132 others(18): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113330685 | TGGGAGCC others(152): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 288 | 0.0035 | -159 | c.563 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
| HMCN2_chr9_130260760_130439123 | 130277874 | CCACCACC others(152): Show |
C | intron_variant | MODIFIER | HG01981.hp2 NA18990.hp1 |
a0086a0130 | a0086c0067a0130c0137 | a0086c0067t0001a0130c0137t0002 | a0086c0067t0001g0104a0130c0137t0002g0243 | 2 | 258 | 0.0078 | -159 | c.260 others(17): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| IARS2_chr1_220089132_220153041 | 220097180 | TGTAGAGT others(152): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | 366 | 0.0055 | -159 | c.390 others(16): Show |
IARS2 | ENSG00000067704.10 | transcript | ENST00000366922.3 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
| IL32_chr16_3060640_3074530 | 3066963 | CCCTGCTC others(152): Show |
C | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 458 | 0.0022 | -159 | c.16- others(13): Show |
IL32 | ENSG00000008517.19 | transcript | ENST00000525643.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| INPP5A_chr10_132532787_132788480 | 132704763 | AGCAGGCA others(152): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp1 HG02015.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0010a0001c0005t0001 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(6): Show | 9 | 204 | 0.0441 | -159 | c.475 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| JAKMIP3_chr10_132060946_132189858 | 132160521 | TGGGGGGG others(152): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA18944.hp1 NA18966.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0023a0003c0020 | a0001c0001t0008a0002c0023t0003a0003c0020t0003 | a0001c0001t0008g0142a0002c0023t0003g0073a0003c0020t0003g0068others(2): Show | 5 | 158 | 0.0317 | -159 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| JAKMIP3_chr10_132060946_132189858 | 132160738 | GGTCTCTT others(152): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0001c0040others(9): Show | a0001c0001t0002a0001c0015t0028a0001c0040t0002others(10): Show | a0001c0001t0002g0007a0001c0001t0002g0114a0001c0001t0002g0132others(15): Show | 18 | 158 | 0.1139 | -159 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KLK4_chr19_50901351_50916395 | 50913508 | CTCTGTGT others(152): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0126a0001c0001t0003g0032a0001c0001t0003g0048others(2): Show | 5 | 414 | 0.0121 | -159 | c.-23 others(11): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2114 | chr19 | TogoVar | ||||||
| KRTAP5-11_chr11_71576855_71587875 | 71584585 | TCCCTGGC others(152): Show |
T | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 464 | 0.0022 | -159 | c.-19 others(11): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 1711 | chr11 | TogoVar | ||||||
| KRTAP5-11_chr11_71576855_71587875 | 71584665 | CCCCTGGC others(152): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp1 HG03834.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 464 | 0.0065 | -159 | c.-19 others(11): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 1791 | chr11 | TogoVar | ||||||
| KRTAP5-11_chr11_71576855_71587875 | 71584771 | GGGGGGCG others(152): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp2 HG02717.hp2 HG03471.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 4 | 464 | 0.0086 | -159 | c.-20 others(11): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 1897 | chr11 | TogoVar | ||||||
| LATS2_chr13_20968036_21066586 | 21007577 | ATATATAT others(152): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 |
a0002 | a0002c0014 | a0002c0014t0018a0002c0014t0038 | a0002c0014t0018g0039a0002c0014t0038g0040 | 2 | 316 | 0.0063 | -159 | c.343 others(19): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
| LCN15_chr9_136754634_136769518 | 136769340 | CCCCCCGC others(152): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 356 | 0.0056 | -159 | c.-50 others(11): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4823 | chr9 | TogoVar | ||||||
| LEPR_chr1_65415668_65646559 | 65612563 | CGGGTATT others(152): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG01934.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0008a0002c0025a0003c0004others(5): Show | a0001c0008t0006a0002c0025t0025a0003c0004t0006others(11): Show | a0001c0008t0006g0062a0002c0025t0025g0015a0003c0004t0006g0002others(24): Show | 27 | 216 | 0.1250 | -159 | c.199 others(19): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LIPG_chr18_49557057_49604185 | 49579040 | GAGAGGGA others(152): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0006 | a0004c0006t0029 | a0004c0006t0029g0265 | 1 | 384 | 0.0026 | -159 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | chr18 | TogoVar |