| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFAP46_chr10_132803392_132947570 | 132888710 | G | GCACCTGC others(236): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0066 | a0066c0077 | a0066c0077t0001 | a0066c0077t0001g0127 | 1 | 246 | 0.0041 | 243 | c.330 others(262): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA others(236): Show |
intron_variant | MODIFIER | HG01975.hp1 HG03453.hp2 |
a0002a0007 | a0002c0004a0007c0010 | a0002c0004t0003a0007c0010t0003 | a0002c0004t0003g0207a0007c0010t0003g0130 | 2 | 236 | 0.0085 | 243 | c.342 others(264): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CHFR_chr12_132827356_132892605 | 132892412 | G | GGACAACA others(236): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02738.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0144a0001c0001t0153 | a0001c0001t0053g0151a0001c0001t0144g0127a0001c0001t0153g0155 | 3 | 378 | 0.0079 | 243 | c.-48 others(254): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 4808 | chr12 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251734 | T | TATTTTAA others(236): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0295 | 1 | 402 | 0.0025 | 243 | c.80- others(258): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | chr21 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(236): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 370 | 0.0027 | 243 | c.891 others(258): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
| CNOT3_chr19_54132762_54160681 | 54133808 | C | CCACCTCC others(236): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 223 | 0.0045 | 243 | c.-42 others(254): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3953 | chr19 | TogoVar | ||||||
| COMMD10_chr5_116080025_116298287 | 116158501 | T | TCTCCTCT others(236): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 350 | 0.0029 | 243 | c.510 others(262): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89587909 | G | GCCCCCCG others(236): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0114 | 1 | 348 | 0.0029 | 243 | c.928 others(258): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240924514 | G | GCCCCCAC others(236): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0220 | 1 | 350 | 0.0029 | 243 | c.489 others(260): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240924828 | C | CCCCCACA others(236): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0007 | a0007c0006 | a0007c0006t0003 | a0007c0006t0003g0162 | 1 | 350 | 0.0029 | 243 | c.489 others(258): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CYBC1_chr17_82437586_82455752 | 82448342 | C | CCTATGAA others(236): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0062 | 1 | 416 | 0.0024 | 243 | c.86- others(256): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
| CYBC1_chr17_82437586_82455752 | 82448481 | C | CACGTGGT others(236): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0061 | 1 | 416 | 0.0024 | 243 | c.85+ others(256): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
| CYSLTR1_chrX_78266468_78332611 | 78269067 | A | ATTATATA others(236): Show |
downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 240 | 0.0042 | 243 | c.*36 others(254): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2400 | chrX | TogoVar | ||||||
| DBNDD1_chr16_89999871_90024456 | 90008316 | T | TTCCCAAG others(236): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 412 | 0.0024 | 243 | c.319 others(258): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150251176 | C | CCCATACC others(236): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 116 | 0.0086 | 243 | c.207 others(262): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DDR2_chr1_162627464_162792405 | 162727099 | A | AAAATATA others(236): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0002g0247a0001c0001t0004g0101a0001c0002t0001g0200others(20): Show | 23 | 302 | 0.0762 | 243 | c.82+ others(258): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DDR2_chr1_162627464_162792405 | 162727099 | A | AAAATATA others(236): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0062 | 1 | 302 | 0.0033 | 243 | c.82+ others(258): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DDR2_chr1_162627464_162792405 | 162727242 | A | AACATATA others(236): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0116a0001c0001t0002g0118a0001c0001t0004g0121 | 3 | 302 | 0.0099 | 243 | c.82+ others(258): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DDX51_chr12_132131594_132149319 | 132148908 | G | GCCTCACT others(236): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0008 | 1 | 334 | 0.0030 | 243 | c.-46 others(254): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4590 | chr12 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 685805 | C | CAGGAGAT others(236): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0114a0001c0001t0001g0115 | 3 | 345 | 0.0087 | 243 | c.805 others(258): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
| DIDO1_chr20_62872743_62931505 | 62875279 | C | CACCCCCA others(236): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0263 | 1 | 320 | 0.0031 | 243 | c.*39 others(254): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2463 | chr20 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 429427 | C | CCCCCCCC others(236): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0019 | 1 | 88 | 0.0114 | 243 | c.395 others(260): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 4/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478386 | G | GGGAAGAA others(236): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 88 | 0.0114 | 243 | c.158 others(260): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 516601 | G | GAGGGGGG others(236): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0078 | 1 | 88 | 0.0114 | 243 | c.86- others(260): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78478100 | T | TCATCATC others(236): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02723.hp1 HG02723.hp2 others(4): Show |
a0007a0023a0070others(4): Show | a0007c0223a0023c0016a0070c0108others(4): Show | a0007c0223t0001a0023c0016t0001a0070c0108t0001others(4): Show | a0007c0223t0001g0121a0023c0016t0001g0010a0070c0108t0001g0076others(4): Show | 7 | 252 | 0.0278 | 243 | c.799 others(260): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78478107 | C | CATCTCCA others(236): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03579.hp1 |
a0029a0047a0053 | a0029c0201a0047c0219a0053c0046 | a0029c0201t0001a0047c0219t0001a0053c0046t0001 | a0029c0201t0001g0140a0047c0219t0001g0122a0053c0046t0001g0102 | 3 | 252 | 0.0119 | 243 | c.799 others(260): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 127362837 | A | ACACATGC others(236): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18522.hp2 NA18906.hp1 |
a0001a0003 | a0001c0030a0003c0043a0003c0044 | a0001c0030t0001a0003c0043t0003a0003c0044t0004 | a0001c0030t0001g0034a0003c0043t0003g0042a0003c0044t0004g0060 | 3 | 136 | 0.0221 | 243 | c.343 others(260): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 33/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400157 | C | CCACCTCC others(236): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02965.hp2 HG03225.hp2 others(1): Show |
a0036a0040a0044others(1): Show | a0036c0123a0040c0048a0044c0037others(1): Show | a0036c0123t0001a0040c0048t0008a0044c0037t0003others(1): Show | a0036c0123t0001g0240a0040c0048t0008g0012a0044c0037t0003g0236others(1): Show | 4 | 256 | 0.0156 | 243 | c.323 others(260): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOK7_chr4_3458306_3499482 | 3490448 | C | CCTGCTCA others(236): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0125 | 1 | 404 | 0.0025 | 243 | c.772 others(258): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619009 | C | CGCTCCCC others(236): Show |
intron_variant | MODIFIER | HG00642.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0015 | 2 | 250 | 0.0080 | 243 | c.-10 others(262): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619366 | C | CCCCCCTG others(236): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0082 | 2 | 250 | 0.0080 | 243 | c.-10 others(262): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DYM_chr18_49031387_49465645 | 49440398 | A | ATATTTAG others(236): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 290 | 0.0035 | 243 | c.-53 others(260): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
| EIF4G3_chr1_20801479_21181897 | 21180071 | T | TATATATT others(236): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0139a0001c0001t0001g0168 | 3 | 312 | 0.0096 | 243 | c.-38 others(254): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3175 | chr1 | TogoVar | ||||||
| EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(236): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02257.hp1 |
a0001a0002 | a0001c0003a0002c0045 | a0001c0003t0002a0002c0045t0002 | a0001c0003t0002g0002a0002c0045t0002g0192 | 2 | 208 | 0.0096 | 243 | c.282 others(262): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| EP400_chr12_131944942_132085460 | 131998785 | C | CTTGTATA others(236): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0193 | 1 | 208 | 0.0048 | 243 | c.282 others(262): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| EVA1C_chr21_32407706_32520387 | 32477700 | A | ACCTCCCC others(236): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01433.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0156a0001c0001t0001g0167a0001c0001t0001g0174others(15): Show | 18 | 346 | 0.0520 | 243 | c.634 others(260): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137355534 | A | AGGAGAAG others(236): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0017 | a0017c0030 | a0017c0030t0001 | a0017c0030t0001g0015 | 1 | 82 | 0.0122 | 243 | c.757 others(258): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
| FAM13A_chr4_88720960_89062185 | 88945783 | G | GTATATAT others(236): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0009 | a0001c0009t0033 | a0001c0009t0033g0200 | 1 | 208 | 0.0048 | 243 | c.606 others(260): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 4/23 | chr4 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241457423 | G | GCCCAGTG others(236): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0049 | 1 | 378 | 0.0027 | 243 | c.158 others(260): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457423 | G | GCCCAGTG others(236): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03490.hp1 HG03492.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0039a0003c0005t0001g0041a0003c0005t0001g0042others(2): Show | 5 | 378 | 0.0132 | 243 | c.158 others(260): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457459 | A | GCACTAGG others(236): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0148 | 1 | 378 | 0.0027 | 243 | c.158 others(260): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | chr2 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241457540 | G | GCACTAAG others(236): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0336a0002c0002t0001g0353 | 2 | 378 | 0.0053 | 243 | c.158 others(260): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457546 | G | GGGACCGC others(236): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0360 | 1 | 378 | 0.0027 | 243 | c.158 others(260): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FARP2_chr2_241351285_241499841 | 241457654 | C | CTTGGGCG others(236): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0044 | 1 | 378 | 0.0027 | 243 | c.158 others(260): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FER1L6_chr8_123846987_124125061 | 123856031 | A | ATATGAGA others(236): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 |
a0001a0002 | a0001c0058a0002c0003 | a0001c0058t0001a0002c0003t0004 | a0001c0058t0001g0097a0002c0003t0004g0071 | 2 | 196 | 0.0102 | 243 | c.-8+ others(258): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FER1L6_chr8_123846987_124125061 | 123856031 | A | ATATGAGA others(236): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01346.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0014others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0003others(3): Show | a0001c0001t0002g0096a0001c0001t0002g0109a0001c0001t0003g0093others(5): Show | 8 | 196 | 0.0408 | 243 | c.-8+ others(258): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FER1L6_chr8_123846987_124125061 | 123856031 | A | ATATGAGA others(236): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0164 | 1 | 196 | 0.0051 | 243 | c.-8+ others(258): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FER1L6_chr8_123846987_124125061 | 123856189 | A | ATGTGTAT others(236): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0014 | a0001c0014t0005 | a0001c0014t0005g0094 | 1 | 196 | 0.0051 | 243 | c.-8+ others(258): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FGFR4_chr5_177081915_177103144 | 177097078 | C | CCTCCTCT others(236): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0026 | 2 | 372 | 0.0054 | 243 | c.215 others(260): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FGFR4_chr5_177081915_177103144 | 177097078 | C | CCTCCTCT others(236): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0091 | 1 | 372 | 0.0027 | 243 | c.215 others(260): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |