| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFAP44_chr3_113281930_113446493 | 113328297 | T | TCAATCTC others(340): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0007 | a0007c0009 | a0007c0009t0021 | a0007c0009t0021g0275 | 1 | 348 | 0.0029 | 347 | c.411 others(364): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113328300 | A | ATCTCTTT others(340): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18946.hp1 NA18973.hp2 others(5): Show |
a0002a0024 | a0002c0002a0024c0035 | a0002c0002t0002a0002c0002t0004a0024c0035t0002 | a0002c0002t0002g0072a0002c0002t0002g0074a0002c0002t0002g0075others(5): Show | 8 | 348 | 0.0230 | 347 | c.411 others(364): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CHRNA7_chr15_32025515_32178018 | 32034351 | C | CAGAAAAT others(340): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 307 | 0.0033 | 347 | c.195 others(364): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CISD2_chr4_102863992_102897807 | 102864368 | T | TAAAAATT others(340): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(232): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(123): Show | 235 | 354 | 0.6638 | 347 | c.-47 others(358): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 4623 | chr4 | TogoVar | ||||||
| CTNNA2_chr2_79508051_80653780 | 80238001 | T | TGACGTGT others(340): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0040 | 1 | 68 | 0.0147 | 347 | c.105 others(370): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CUX2_chr12_111029165_111355554 | 111326378 | T | TGTGGGGG others(340): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0003 | 1 | 100 | 0.0100 | 347 | c.292 others(366): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DBX2_chr12_45009672_45056099 | 45025761 | T | TAGAAAGA others(340): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 416 | 0.0024 | 347 | c.500 others(364): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132149096 | C | CCACACCC others(340): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | 347 | c.-48 others(358): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4778 | chr12 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(340): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 367 | 0.0027 | 347 | c.-42 others(358): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(340): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 367 | 0.0027 | 347 | c.-42 others(358): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
| DIO2_chr14_80192526_80216504 | 80206449 | T | TAAAAATT others(340): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 406 | 0.0025 | 347 | c.223 others(364): Show |
DIO2 | ENSG00000211448.14 | transcript | ENST00000438257.9 | protein_coding | 1/1 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr14 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1508511 | T | TGCAAACC others(340): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01361.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(5): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0003t0001g0026others(6): Show | 9 | 40 | 0.2250 | 347 | c.172 others(364): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAH5_chr5_13685328_13949688 | 13942226 | A | ACTGGCAT others(340): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0057 | a0057c0194 | a0057c0194t0002 | a0057c0194t0002g0222 | 1 | 252 | 0.0040 | 347 | c.57+ others(362): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 1/78 | chr5 | TogoVar | ||||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(340): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0141 | 1 | 284 | 0.0035 | 347 | c.124 others(368): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(340): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 284 | 0.0035 | 347 | c.124 others(368): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(340): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01257.hp1 others(12): Show |
a0001a0002a0004others(5): Show | a0001c0035a0002c0010a0002c0013others(7): Show | a0001c0035t0001a0002c0010t0001a0002c0013t0001others(7): Show | a0001c0035t0001g0171a0002c0010t0001g0129a0002c0013t0001g0056others(12): Show | 15 | 284 | 0.0528 | 347 | c.124 others(368): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(340): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01167.hp2 others(12): Show |
a0003a0008a0033others(4): Show | a0003c0047a0008c0008a0008c0098others(6): Show | a0003c0047t0001a0008c0008t0001a0008c0098t0001others(6): Show | a0003c0047t0001g0236a0008c0008t0001g0001a0008c0008t0001g0100others(12): Show | 15 | 284 | 0.0528 | 347 | c.124 others(368): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAJC4_chr11_64225548_64239281 | 64237081 | C | CGAGAGAG others(340): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 338 | 0.0030 | 347 | c.*28 others(358): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2801 | chr11 | TogoVar | ||||||
| DOCK3_chr3_50669927_51389198 | 50841728 | T | TTATTGTT others(340): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0098a0001c0001t0001g0110a0001c0001t0001g0120others(7): Show | 10 | 212 | 0.0472 | 347 | c.162 others(360): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 262448 | T | TAAAAAAA others(340): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0136 | 1 | 256 | 0.0039 | 347 | c.54- others(362): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPYSL2_chr8_26509031_26663175 | 26556265 | A | ATATATAC others(340): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0134 | 1 | 316 | 0.0032 | 347 | c.355 others(366): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
| DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(340): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 316 | 0.0032 | 347 | c.355 others(366): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DUSP16_chr12_12468282_12567863 | 12536014 | T | TAAGAACA others(340): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0322 | 1 | 352 | 0.0028 | 347 | c.-36 others(368): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
| EFEMP1_chr2_55860967_55928782 | 55873983 | T | TAAAAACA others(340): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0046 | 1 | 350 | 0.0029 | 347 | c.100 others(364): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43612590 | T | TAGAAAGT others(340): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 188 | 0.0053 | 347 | c.-21 others(368): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
| EPB41_chr1_28909569_29125041 | 29100313 | C | CAAAAAAA others(340): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 312 | 0.0032 | 347 | c.231 others(366): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ERBB4_chr2_211370717_212543802 | 212060587 | T | TAAGAGTA others(340): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 56 | 0.0179 | 347 | c.234 others(366): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 671775 | G | GGCCCCGG others(340): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp1 others(10): Show |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0002a0011c0010t0002 | a0001c0001t0002g0352a0001c0001t0002g0354a0001c0001t0002g0355others(10): Show | 13 | 378 | 0.0344 | 347 | c.106 others(366): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
| ESYT2_chr7_158725997_158834509 | 158729680 | A | AAGAGCAA others(340): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0027 | a0002c0027t0044 | a0002c0027t0044g0194 | 1 | 370 | 0.0027 | 347 | c.*45 others(358): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1316 | chr7 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137355671 | G | GGGAGGAA others(340): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0069 | 1 | 82 | 0.0122 | 347 | c.757 others(362): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
| EYA1_chr8_71192433_71367069 | 71200158 | T | TGAGCAAA others(340): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0216 | 1 | 232 | 0.0043 | 347 | c.169 others(364): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 17/17 | chr8 | TogoVar | ||||||
| FAM120B_chr6_170301758_170412067 | 170398809 | T | TCGTAGGA others(340): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0029 | a0001c0002t0013g0039a0001c0002t0013g0040a0001c0002t0029g0091 | 3 | 289 | 0.0104 | 347 | c.269 others(366): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170398809 | T | TCTTAGGA others(340): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 289 | 0.0035 | 347 | c.269 others(366): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170398809 | T | TCTTAGGA others(340): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0239a0001c0002t0001g0032others(22): Show | 27 | 289 | 0.0934 | 347 | c.269 others(366): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170398809 | T | TCTTAGGA others(340): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 HG03041.hp2 others(7): Show |
a0001a0004 | a0001c0002a0001c0009a0004c0005 | a0001c0002t0001a0001c0009t0017a0001c0009t0018others(1): Show | a0001c0002t0001g0013a0001c0002t0001g0102a0001c0009t0017g0093others(7): Show | 10 | 289 | 0.0346 | 347 | c.269 others(366): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170398901 | G | GAAAGGTA others(340): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0240a0001c0001t0005g0217 | 2 | 289 | 0.0069 | 347 | c.269 others(366): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170398901 | G | GAAAGGTA others(340): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0214 | 1 | 289 | 0.0035 | 347 | c.269 others(366): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170398923 | C | CCCTTAGG others(340): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19030.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0098a0001c0008t0001g0099 | 2 | 289 | 0.0069 | 347 | c.269 others(366): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM135B_chr8_138125023_138502261 | 138313722 | T | TAAGATAC others(340): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0114 | 1 | 212 | 0.0047 | 347 | c.78- others(362): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 2/19 | chr8 | TogoVar | ||||||
| FAT3_chr11_92219818_92901473 | 92269170 | T | TAAAAACA others(340): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0048 | a0048c0069 | a0048c0069t0046 | a0048c0069t0046g0056 | 1 | 118 | 0.0085 | 347 | c.-18 others(366): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAXC_chr6_99266168_99354674 | 99317526 | T | TAAGAAAC others(340): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0373 | 1 | 398 | 0.0025 | 347 | c.823 others(364): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
| FBLN1_chr22_45497883_45606135 | 45526149 | T | TAAAAGAG others(340): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 346 | 0.0029 | 347 | c.321 others(362): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| FBXL18_chr7_5470797_5518809 | 5507833 | C | CAAAAGAA others(340): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0209 | 1 | 338 | 0.0030 | 347 | c.19- others(362): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 60860562 | A | ATACATGA others(340): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0040 | 1 | 46 | 0.0217 | 347 | c.-11 others(368): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71435611 | C | CGGAGGGA others(340): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 96 | 0.0104 | 347 | c.-16 others(368): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| FREM2_chr13_38682077_38892131 | 38856738 | T | TCCTGAAT others(340): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0238 | 1 | 262 | 0.0038 | 347 | c.705 others(364): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FRMPD3_chrX_107444652_107610251 | 107570243 | T | TGAAATGT others(340): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG03209.hp1 others(5): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0016a0001c0002t0018others(2): Show | a0001c0002t0002g0062a0001c0002t0002g0171a0001c0002t0016g0061others(5): Show | 8 | 183 | 0.0437 | 347 | c.129 others(366): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FUNDC1_chrX_44518639_44547859 | 44519350 | T | TAAAGACT others(340): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 313 | 0.0032 | 347 | c.*48 others(358): Show |
FUNDC1 | ENSG00000069509.6 | transcript | ENST00000378045.5 | protein_coding | 4288 | chrX | TogoVar | ||||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0109 | 1 | 360 | 0.0028 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(340): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01981.hp2 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 4 | 360 | 0.0111 | 347 | c.-16 others(366): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |