view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A2_chr13_110302284_110518209 | 110385858 | T | TTACAGTG others(305): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01943.hp2 NA18953.hp2 |
a0001a0002a0003 | a0001c0015a0002c0007a0003c0122 | a0001c0015t0002a0002c0007t0005a0003c0122t0006 | a0001c0015t0002g0343 a0002c0007t0005g0157 a0003c0122t0006g0068 |
3 | 372 | 0.0081 | 312 | c.180 others(331): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134683 | G | GAGGGTCA others(305): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0010 | a0010c0040 | a0010c0040t0006 | a0010c0040t0006g0229 | 1 | 372 | 0.0027 | 312 | c.*51 others(323): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4883 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134683 | G | GAGGGTCA others(305): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0013 | a0013c0055 | a0013c0055t0001 | a0013c0055t0001g0225 | 1 | 364 | 0.0028 | 312 | c.*21 others(323): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1836 | chr21 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62825106 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0318 | 1 | 412 | 0.0024 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825106 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0073 | a0001c0073t0002 | a0001c0073t0002g0157 | 1 | 412 | 0.0024 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19056.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0002 | a0001c0003t0001g0324 a0001c0012t0002g0322 |
2 | 412 | 0.0049 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | NA19067.hp2 NA19080.hp1 |
a0001 | a0001c0003a0001c0083 | a0001c0003t0001a0001c0083t0001 | a0001c0003t0001g0277 a0001c0083t0001g0319 |
2 | 412 | 0.0049 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0336 | 1 | 412 | 0.0024 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0303 | 1 | 412 | 0.0024 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0284 | 1 | 412 | 0.0024 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(305): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0287 a0001c0003t0001g0316 |
2 | 412 | 0.0049 | 312 | c.630 others(327): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116163180 | T | TAGAATGT others(305): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19080.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0333 a0002c0003t0001g0017 |
2 | 350 | 0.0057 | 312 | c.510 others(331): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COPB1_chr11_14452512_14504811 | 14478464 | T | TTTTTTTT others(305): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18945.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312 |
3 | 386 | 0.0078 | 312 | c.135 others(331): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 11/21 | chr11 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70327324 | T | TGAAAAGG others(305): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0012g0279 |
3 | 376 | 0.0080 | 312 | c.205 others(327): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
CREB1_chr2_207524962_207610988 | 207607677 | T | TATCATAC others(305): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0100 |
2 | 308 | 0.0065 | 312 | c.*10 others(325): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 1690 | chr2 | TogoVar | |||||||
CREB3L3_chr19_4148631_4178054 | 4158201 | C | CAAAACTG others(305): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 404 | 0.0025 | 312 | c.457 others(327): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198193 | C | CAGGACAC others(305): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0058 | 1 | 167 | 0.0060 | 312 | c.646 others(327): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198352 | G | GCCTCCCT others(305): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0069 | 1 | 167 | 0.0060 | 312 | c.646 others(327): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924065 | C | CCACACTA others(305): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0199 | 1 | 350 | 0.0029 | 312 | c.488 others(329): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(305): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0030 | a0002c0030t0016 | a0002c0030t0016g0122 | 1 | 126 | 0.0079 | 312 | c.416 others(333): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66577000 | T | TCTTAACT others(305): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0019 | 1 | 46 | 0.0217 | 312 | c.137 others(333): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 10/17 | chr10 | TogoVar | |||||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(305): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0266 | 1 | 334 | 0.0030 | 312 | c.290 others(327): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYP3A5_chr7_99643194_99684996 | 99675638 | T | TCTCCTCT others(305): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 292 | 0.0034 | 312 | c.165 others(327): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
DBX2_chr12_45009672_45056099 | 45025761 | T | TAGAAAGA others(305): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02055.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0102 a0001c0001t0005g0020 a0001c0001t0005g0096 others(9): Show |
13 | 416 | 0.0313 | 312 | c.500 others(329): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
DBX2_chr12_45009672_45056099 | 45025761 | T | TAGAAAGA others(305): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0156 a0001c0001t0001g0179 |
4 | 416 | 0.0096 | 312 | c.500 others(329): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
DBX2_chr12_45009672_45056099 | 45025761 | T | TAGAAAGA others(305): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 a0001c0001t0001g0275 |
2 | 416 | 0.0048 | 312 | c.500 others(329): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
DCUN1D4_chr4_51838153_51921837 | 51897576 | T | TAAAAATA others(305): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0113 | 1 | 262 | 0.0038 | 312 | c.507 others(329): Show |
DCUN1D4 | ENSG00000109184.15 | transcript | ENST00000334635.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DDI1_chr11_104031640_104044196 | 104041415 | C | CAAAAATC others(305): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0000 | 1 | 448 | 0.0022 | 312 | c.*34 others(323): Show |
DDI1 | ENSG00000170967.5 | transcript | ENST00000302259.5 | protein_coding | 2220 | chr11 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(305): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 312 | c.*27 others(323): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875248 | C | CCACCCGC others(305): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0095 | 1 | 320 | 0.0031 | 312 | c.*39 others(323): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2494 | chr20 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608582 | C | CCACACAC others(305): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 88 | 0.0114 | 312 | c.85+ others(329): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 894845 | G | GCTGGCAG others(305): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | 312 | c.19- others(329): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 746324 | T | TCATGCCT others(305): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 378 | 0.0027 | 312 | c.102 others(331): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3261761 | T | TAAGATTT others(305): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0013 | a0001c0003t0006g0350 a0001c0003t0013g0361 |
2 | 362 | 0.0055 | 312 | c.287 others(331): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3261761 | T | TAAGATTT others(305): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19000.hp2 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0012 | a0001c0003t0005g0333 a0001c0003t0012g0031 |
2 | 362 | 0.0055 | 312 | c.287 others(331): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21584948 | T | TAAAAAAA others(305): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0028 | a0028c0013 | a0028c0013t0001 | a0028c0013t0001g0101 | 1 | 298 | 0.0034 | 312 | c.171 others(331): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 9/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10758435 | C | CTCCCTCC others(305): Show |
intron_variant | MODIFIER | HG02074.hp1 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0247 |
2 | 278 | 0.0072 | 312 | c.162 others(329): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127392028 | A | AGCATCTG others(305): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0039 | a0004c0039t0003 | a0004c0039t0003g0006 | 1 | 136 | 0.0074 | 312 | c.392 others(331): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25315130 | A | AATATAAA others(305): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0019 | a0003c0019t0027 | a0003c0019t0027g0143 | 1 | 210 | 0.0048 | 312 | c.131 others(331): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 13/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPH6_chr15_35365880_35551165 | 35457361 | T | TCAATAAT others(305): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18956.hp1 NA19082.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(1): Show |
4 | 228 | 0.0175 | 312 | c.313 others(329): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154268951 | T | TAAAAATG others(305): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG01952.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(7): Show | a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(7): Show |
10 | 38 | 0.2632 | 312 | c.244 others(333): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154268951 | T | TAAAAATG others(305): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02559.hp2 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0007a0001c0010a0001c0021others(1): Show | a0001c0007t0019a0001c0010t0010a0001c0021t0011others(1): Show | a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0021t0011g0022 others(1): Show |
4 | 38 | 0.1053 | 312 | c.244 others(333): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPY19L4_chr8_94714900_94798836 | 94782492 | T | TTACTGTG others(305): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0071 |
2 | 290 | 0.0069 | 312 | c.171 others(331): Show |
DPY19L4 | ENSG00000156162.16 | transcript | ENST00000414645.6 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71617879 | G | GGTGTGTG others(305): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02683.hp1 |
a0001 | a0001c0011a0001c0017 | a0001c0011t0001a0001c0017t0001 | a0001c0011t0001g0075 a0001c0017t0001g0034 |
2 | 192 | 0.0104 | 312 | c.441 others(331): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71617879 | G | GGTGTGTG others(305): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02683.hp2 |
a0001 | a0001c0008a0001c0018 | a0001c0008t0001a0001c0018t0001 | a0001c0008t0001g0126 a0001c0018t0001g0088 |
2 | 208 | 0.0096 | 312 | c.446 others(331): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245012486 | T | TGAAAGAT others(305): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02258.hp1 HG02559.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 others(15): Show |
18 | 290 | 0.0621 | 312 | c.26- others(327): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927838 | T | TGGTGGTG others(305): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0266 | 1 | 288 | 0.0035 | 312 | c.190 others(331): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928122 | G | GTGATGGT others(305): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0187 | 1 | 288 | 0.0035 | 312 | c.190 others(331): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
ENY2_chr8_109329347_109350954 | 109337068 | T | TCATTTAA others(305): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 3 | 428 | 0.0070 | 312 | c.83+ others(325): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28994950 | G | GCACCCAG others(305): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 312 | 0.0032 | 312 | c.681 others(329): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |