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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1098583 | GACCCACA others(67): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -74 | c.74- others(93): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1098590 | ACCAGGCT others(67): Show |
A | intron_variant | MODIFIER | HG02895.hp1 NA18906.hp1 |
a0001a0004 | a0001c0003a0004c0008 | a0001c0003t0001a0004c0008t0016 | a0001c0003t0001g0027 a0004c0008t0016g0029 |
2 | 40 | 0.0500 | -74 | c.74- others(93): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55155019 | AAGGGGCT others(67): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0015 others(6): Show |
16 | 398 | 0.0402 | -74 | c.*39 others(85): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3645 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55159745 | TCTGGACT others(67): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0113 a0001c0001t0001g0122 others(16): Show |
80 | 398 | 0.2010 | -74 | c.116 others(90): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 10/11 | chr19 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78474901 | GAGGTTTC others(67): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01891.hp1 NA18982.hp1 |
a0001a0002a0108 | a0001c0208a0002c0161a0108c0183 | a0001c0208t0001a0002c0161t0003a0108c0183t0002 | a0001c0208t0001g0065 a0002c0161t0003g0246 a0108c0183t0002g0092 |
3 | 252 | 0.0119 | -74 | c.851 others(91): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | |||||||
DNMT1_chr19_10128346_10199953 | 10182442 | CATATATA others(67): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(2): Show |
5 | 386 | 0.0130 | -74 | c.81- others(87): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 1/40 | chr19 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 154261 | CGCTACAC others(67): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0280 | 1 | 339 | 0.0030 | -74 | c.923 others(91): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 403920 | ATATATAT others(67): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0033 | a0001c0033t0004 | a0001c0033t0004g0125 | 1 | 256 | 0.0039 | -74 | c.323 others(91): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154676192 | AGCGTGCT others(67): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0009 | 1 | 38 | 0.0263 | -74 | c.762 others(91): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP9_chr19_4670227_4728842 | 4672249 | ATATTCAT others(67): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 | 1 | 314 | 0.0032 | -74 | c.*42 others(85): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 2977 | chr19 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97130762 | TTCCTTCC others(67): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0019 a0002c0002t0006g0006 |
2 | 52 | 0.0385 | -74 | c.262 others(95): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25380760 | GCCTGGAG others(67): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02523.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0088 a0001c0001t0001g0122 others(3): Show |
6 | 168 | 0.0357 | -74 | c.188 others(93): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 19/20 | chr2 | TogoVar | |||||||
EARS2_chr16_23515754_23562350 | 23520701 | AAACAGAA others(67): Show |
A | splice_region_variant | LOW | HG02109.hp1 | a0001 | a0001c0007 | a0001c0007t0020 | a0001c0007t0020g0050 | 1 | 286 | 0.0035 | -74 | c.*35 others(85): Show |
EARS2 | ENSG00000103356.18 | transcript | ENST00000449606.7 | protein_coding | 9/9 | chr16 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92528558 | CAAAACAA others(67): Show |
C | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0132 | 1 | 400 | 0.0025 | -74 | c.-27 others(91): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137723175 | TCCGGGGT others(67): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 170 | 0.0059 | -74 | c.643 others(91): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20981613 | TATGTATA others(67): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0294 | 1 | 312 | 0.0032 | -74 | c.199 others(89): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315910 | CCCCCTAC others(67): Show |
C | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 250 | 0.0040 | -74 | c.259 others(93): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306238 | GGGAGAGG others(67): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG02258.hp1 NA18954.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0137 others(2): Show |
5 | 320 | 0.0156 | -74 | c.-8- others(91): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48026910 | TAATTAAT others(67): Show |
T | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0041 | 1 | 388 | 0.0026 | -74 | c.*19 others(85): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1757 | chr19 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65498937 | TATATTAT others(67): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00735.hp1 others(59): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0003g0076 a0001c0001t0003g0090 a0001c0001t0003g0103 others(59): Show |
62 | 234 | 0.2650 | -74 | c.911 others(91): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPHA8_chr1_22558489_22608595 | 22599644 | AGGGAAGG others(67): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01255.hp2 others(17): Show |
a0001a0013 | a0001c0002a0001c0008a0001c0016others(4): Show | a0001c0002t0006a0001c0008t0006a0001c0008t0012others(6): Show | a0001c0002t0006g0014 a0001c0002t0006g0100 a0001c0002t0006g0209 others(15): Show |
20 | 342 | 0.0585 | -74 | c.238 others(91): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078251 | TGCTGGGG others(67): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0028 others(16): Show |
37 | 340 | 0.1088 | -74 | c.58+ others(87): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078297 | GCTGGACT others(67): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02004.hp2 others(8): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0008a0003c0003others(3): Show | a0001c0001t0001a0001c0008t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0102 a0001c0001t0001g0139 others(5): Show |
11 | 340 | 0.0324 | -74 | c.58+ others(87): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078320 | GGAGGGGC others(67): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0169 others(1): Show |
6 | 340 | 0.0177 | -74 | c.58+ others(87): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078371 | CCTGGACT others(67): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 340 | 0.0029 | -74 | c.58+ others(87): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078757 | AGAGGGAG others(67): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01168.hp2 others(81): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(30): Show |
84 | 340 | 0.2471 | -74 | c.59- others(87): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078778 | GCTGGACT others(67): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01981.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0126 a0002c0002t0001g0070 a0004c0004t0001g0009 others(6): Show |
13 | 340 | 0.0382 | -74 | c.59- others(87): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078815 | CCTGGACT others(67): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0087 others(3): Show |
11 | 340 | 0.0324 | -74 | c.59- others(87): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1090780 | ATTGTTGT others(67): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0133a0002c0002t0089 | a0001c0001t0133g0094 a0002c0002t0089g0037 |
2 | 162 | 0.0124 | -74 | c.108 others(93): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERGIC3_chr20_35537078_35562634 | 35539253 | TTATATAT others(67): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 364 | 0.0028 | -74 | c.-28 others(85): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 2824 | chr20 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700235 | GCCCGCAC others(67): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(15): Show |
a0001a0008 | a0001c0001a0001c0014a0008c0016 | a0001c0001t0002a0001c0014t0001a0008c0016t0002 | a0001c0001t0002g0011 a0001c0001t0002g0249 a0001c0001t0002g0255 others(14): Show |
18 | 378 | 0.0476 | -74 | c.170 others(91): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ETFB_chr19_51340169_51371388 | 51353421 | AGGCCCCC others(67): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0027 a0001c0001t0001g0092 a0001c0001t0001g0099 others(12): Show |
21 | 436 | 0.0482 | -74 | c.217 others(89): Show |
ETFB | ENSG00000105379.10 | transcript | ENST00000309244.9 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ETFB_chr19_51340169_51371388 | 51353606 | GGGCCCCC others(67): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02486.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0039 a0001c0001t0001g0186 a0001c0001t0001g0187 others(9): Show |
14 | 436 | 0.0321 | -74 | c.217 others(89): Show |
ETFB | ENSG00000105379.10 | transcript | ENST00000309244.9 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584958 | GAAAGAAA others(67): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01361.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0035 a0001c0001t0001g0081 a0001c0001t0001g0194 others(11): Show |
14 | 286 | 0.0490 | -74 | c.-15 others(91): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585061 | AAAGAAAG others(67): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 286 | 0.0035 | -74 | c.-15 others(91): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 639265 | TCTCCTGC others(67): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02622.hp1 |
a0001a0004 | a0001c0001a0001c0007a0004c0009 | a0001c0001t0002a0001c0007t0003a0004c0009t0009 | a0001c0001t0002g0197 a0001c0007t0003g0171 a0004c0009t0009g0148 |
3 | 272 | 0.0110 | -74 | c.-43 others(91): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103109176 | TCTCCCTC others(67): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG03017.hp2 |
a0003a0041 | a0003c0001a0041c0070 | a0003c0001t0001a0041c0070t0002 | a0003c0001t0001g0136 a0041c0070t0002g0127 |
2 | 404 | 0.0050 | -74 | c.197 others(91): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109184 | TCTCCCTC others(67): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG02074.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0013a0004c0010 | a0001c0003t0002a0002c0013t0002a0004c0010t0002 | a0001c0003t0002g0302 a0002c0013t0002g0025 a0004c0010t0002g0297 |
4 | 404 | 0.0099 | -74 | c.197 others(91): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109192 | GCCACCCT others(67): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG04204.hp1 NA20805.hp2 |
a0004a0025 | a0004c0002a0004c0010a0025c0046 | a0004c0002t0003a0004c0010t0003a0025c0046t0002 | a0004c0002t0003g0054 a0004c0010t0003g0287 a0025c0046t0002g0286 |
3 | 404 | 0.0074 | -74 | c.197 others(91): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72401508 | TATATATA others(67): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 104 | 0.0096 | -74 | c.198 others(95): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803532 | TATATATA others(67): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0145 | 1 | 312 | 0.0032 | -74 | c.13- others(91): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803562 | TATATATA others(67): Show |
T | intron_variant | MODIFIER | NA19062.hp1 NA19064.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0110 a0001c0007t0001g0097 |
2 | 312 | 0.0064 | -74 | c.13- others(91): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803580 | TACATATA others(67): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 others(3): Show |
6 | 312 | 0.0192 | -74 | c.13- others(91): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261580 | GCCCTCCA others(67): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01433.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0165 a0001c0001t0001g0181 a0002c0002t0001g0233 others(2): Show |
5 | 292 | 0.0171 | -74 | c.571 others(91): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FAM83D_chr20_38921417_38958106 | 38949825 | TGTTTATT others(67): Show |
T | intron_variant | MODIFIER | NA18959.hp1 | a0014 | a0014c0016 | a0014c0016t0002 | a0014c0016t0002g0074 | 1 | 342 | 0.0029 | -74 | c.777 others(91): Show |
FAM83D | ENSG00000101447.15 | transcript | ENST00000619850.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022649 | TTATATTA others(67): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02976.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 |
3 | 258 | 0.0116 | -74 | c.*26 others(85): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1582 | chrX | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186610661 | ATTATATA others(67): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG02258.hp1 others(10): Show |
a0005a0010a0044others(2): Show | a0005c0011a0005c0166a0010c0041others(3): Show | a0005c0011t0006a0005c0011t0017a0005c0011t0035others(5): Show | a0005c0011t0006g0095 a0005c0011t0006g0096 a0005c0011t0017g0008 others(10): Show |
13 | 338 | 0.0385 | -74 | c.985 others(91): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186627087 | TGAATGAA others(67): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(29): Show |
a0007a0010a0014others(8): Show | a0007c0009a0007c0084a0007c0096others(11): Show | a0007c0009t0001a0007c0009t0003a0007c0084t0001others(15): Show | a0007c0009t0001g0188 a0007c0009t0001g0195 a0007c0009t0001g0196 others(28): Show |
32 | 338 | 0.0947 | -74 | c.481 others(92): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 9/26 | chr4 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45591787 | GCGCCATT others(67): Show |
G | intron_variant | MODIFIER | NA18948.hp1 NA18988.hp2 NA18995.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(4): Show |
7 | 346 | 0.0202 | -74 | c.197 others(93): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FCGRT_chr19_49507661_49531428 | 49512974 | GGGTTGGG others(67): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 a0001c0002t0001g0052 |
2 | 356 | 0.0056 | -74 | c.-15 others(89): Show |
FCGRT | ENSG00000104870.13 | transcript | ENST00000221466.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |