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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ETS1_chr11_128453765_128592558 | 128558649 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0216 a0001c0001t0004g0027 a0001c0001t0004g0137 others(28): Show |
31 | 286 | 0.1084 | -17 | c.70- others(32): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128571501 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0018a0001c0002t0002others(2): Show | a0001c0001t0005g0153 a0001c0001t0018g0044 a0001c0002t0002g0141 others(3): Show |
6 | 286 | 0.0210 | -17 | c.69+ others(32): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38816065 | AGGGAGGG others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01943.hp2 HG02135.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0113 others(4): Show |
7 | 426 | 0.0164 | -17 | c.506 others(32): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ETV1_chr7_13886229_13994666 | 13975442 | AGGCTGAG others(10): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0312 | 1 | 320 | 0.0031 | -17 | c.235 others(34): Show |
ETV1 | ENSG00000006468.15 | transcript | ENST00000430479.6 | protein_coding | 6/13 | chr7 | TogoVar | |||||||
ETV5_chr3_186041314_186114089 | 186103619 | AAACACAC others(10): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0274 | 1 | 340 | 0.0029 | -17 | c.232 others(34): Show |
ETV5 | ENSG00000244405.8 | transcript | ENST00000306376.10 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11723229 | AAGTGTGC others(10): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0072a0001c0001t0110others(5): Show | a0001c0001t0011g0029 a0001c0001t0072g0258 a0001c0001t0110g0261 others(6): Show |
9 | 262 | 0.0344 | -17 | c.34- others(34): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32502032 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 346 | 0.0029 | -17 | c.859 others(32): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5732254 | TGGCGGGT others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(56): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0004a0001c0008others(21): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0001others(34): Show | a0001c0002t0002g0098 a0001c0002t0002g0147 a0001c0002t0003g0111 others(56): Show |
59 | 369 | 0.1599 | -17 | c.617 others(32): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EVI2A_chr17_31311410_31326622 | 31322501 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0023 a0001c0001t0006g0017 |
5 | 378 | 0.0132 | -17 | c.-10 others(28): Show |
EVI2A | ENSG00000126860.12 | transcript | ENST00000462804.3 | protein_coding | 880 | chr17 | TogoVar | |||||||
EVI5L_chr19_7825218_7869976 | 7838043 | AGAATGTC others(10): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG04228.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0166 |
3 | 396 | 0.0076 | -17 | c.-48 others(34): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92508163 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0119 a0001c0001t0024g0120 |
2 | 168 | 0.0119 | -17 | c.*54 others(28): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 532 | chr1 | TogoVar | |||||||
EVI5_chr1_92503696_92790108 | 92648202 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01261.hp1 HG01981.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0101 a0001c0001t0002g0024 a0001c0001t0002g0087 others(13): Show |
16 | 168 | 0.0952 | -17 | c.139 others(38): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
EVPL_chr17_76001845_76032306 | 76006140 | ATGATTTT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(47): Show |
a0002a0003a0005others(7): Show | a0002c0002a0003c0004a0003c0009others(14): Show | a0002c0002t0001a0003c0004t0001a0003c0009t0001others(14): Show | a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0166 others(39): Show |
50 | 404 | 0.1238 | -17 | c.*94 others(26): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 704 | chr17 | TogoVar | |||||||
EVPL_chr17_76001845_76032306 | 76006685 | CGCACTCA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(55): Show |
a0003a0005a0007others(7): Show | a0003c0004a0003c0009a0003c0054others(15): Show | a0003c0004t0001a0003c0009t0001a0003c0054t0001others(15): Show | a0003c0004t0001g0007 a0003c0004t0001g0044 a0003c0004t0001g0140 others(43): Show |
58 | 404 | 0.1436 | -17 | c.*40 others(26): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 159 | chr17 | TogoVar | |||||||
EVPL_chr17_76001845_76032306 | 76026714 | GCCAGGCT others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG01243.hp1 others(16): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0003a0003c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0168 a0001c0001t0002g0169 a0001c0001t0002g0182 others(14): Show |
19 | 404 | 0.0470 | -17 | c.98+ others(30): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
EWSR1_chr22_29263268_29305521 | 29280862 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02004.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0177 |
2 | 390 | 0.0051 | -17 | c.414 others(34): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137361609 | GGTGGCAG others(10): Show |
G | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 82 | 0.0122 | -17 | c.656 others(34): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 7/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 495094 | GCCCAGGC others(10): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0003a0001c0003t0003a0001c0007t0002others(1): Show | a0001c0001t0003g0202 a0001c0003t0003g0170 a0001c0003t0003g0208 others(3): Show |
6 | 272 | 0.0221 | -17 | c.255 others(36): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 654803 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 others(6): Show |
9 | 272 | 0.0331 | -17 | c.-43 others(36): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 656816 | GGGGCCGA others(10): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018 | 1 | 272 | 0.0037 | -17 | c.-43 others(36): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 658629 | AATATATA others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0201 a0001c0001t0003g0202 a0001c0001t0008g0147 others(2): Show |
5 | 272 | 0.0184 | -17 | c.-43 others(36): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 673252 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(152): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(152): Show |
155 | 272 | 0.5699 | -17 | c.-44 others(36): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 441497 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 418 | 0.0048 | -17 | c.-18 others(28): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133403507 | AATTAGAA others(10): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp2 HG01496.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0003g0055 a0001c0001t0003g0070 a0001c0001t0003g0074 others(11): Show |
14 | 102 | 0.1373 | -17 | c.118 others(38): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896177 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG01981.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0251 |
2 | 288 | 0.0069 | -17 | c.412 others(34): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896179 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003 | a0001c0001t0002g0105 a0003c0003t0003g0066 |
2 | 288 | 0.0069 | -17 | c.412 others(34): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896181 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 288 | 0.0035 | -17 | c.412 others(34): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93004965 | ATTGAAGA others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 HG02886.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0098 a0001c0001t0004g0009 a0001c0001t0004g0087 others(9): Show |
12 | 288 | 0.0417 | -17 | c.209 others(36): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOSC3_chr9_37774714_37790064 | 37777194 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 432 | 0.0023 | -17 | c.*34 others(28): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 2519 | chr9 | TogoVar | |||||||
EXOSC3_chr9_37774714_37790064 | 37786091 | TCAGTAAC others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp2 NA18979.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 432 | 0.0069 | -17 | c.-10 others(28): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 1028 | chr9 | TogoVar | |||||||
EXOSC9_chr4_121796323_121822021 | 121807504 | GTGACTAT others(10): Show |
G | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 400 | 0.0025 | -17 | c.523 others(30): Show |
EXOSC9 | ENSG00000123737.13 | transcript | ENST00000243498.10 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117968553 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 190 | 0.0053 | -17 | c.963 others(38): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117980694 | GGTGGTTT others(10): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0048 | a0001c0001t0001g0029 a0001c0002t0048g0031 |
2 | 190 | 0.0105 | -17 | c.962 others(38): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 47051460 | AACAAGCC others(10): Show |
A | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 238 | 0.0042 | -17 | c.416 others(36): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47172925 | TCAGTGTC others(10): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0034 a0001c0001t0001g0163 a0001c0002t0001g0004 others(3): Show |
6 | 238 | 0.0252 | -17 | c.119 others(32): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084579 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0201 | 1 | 392 | 0.0026 | -17 | c.-69 others(34): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133241093 | GGACATCC others(10): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02723.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007 | a0002c0002t0003g0114 a0002c0002t0007g0131 a0002c0002t0007g0132 |
3 | 264 | 0.0114 | -17 | c.-72 others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 263 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64071637 | CATTAGGT others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02970.hp1 |
a0012a0014 | a0012c0016a0014c0003 | a0012c0016t0001a0014c0003t0001 | a0012c0016t0001g0003 a0014c0003t0001g0016 |
2 | 24 | 0.0833 | -17 | c.657 others(36): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 32/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64307800 | TATGTATC others(10): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0012a0004c0024others(3): Show | a0001c0002t0002a0002c0012t0002a0004c0024t0001others(3): Show | a0001c0002t0002g0019 a0002c0012t0002g0021 a0004c0024t0001g0001 others(3): Show |
6 | 24 | 0.2500 | -17 | c.607 others(34): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64766646 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 |
a0002a0017 | a0002c0012a0017c0014 | a0002c0012t0002a0017c0014t0001 | a0002c0012t0002g0021 a0017c0014t0001g0005 |
2 | 24 | 0.0833 | -17 | c.344 others(38): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65435420 | ATTTAACA others(10): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG02896.hp2 |
a0009a0010a0012 | a0009c0013a0010c0015a0012c0016 | a0009c0013t0001a0010c0015t0002a0012c0016t0001 | a0009c0013t0001g0017 a0010c0015t0002g0023 a0012c0016t0001g0003 |
3 | 24 | 0.1250 | -17 | c.863 others(36): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 5/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65506460 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02630.hp2 others(5): Show |
a0003a0005a0007others(5): Show | a0003c0021a0005c0011a0007c0006others(5): Show | a0003c0021t0001a0005c0011t0002a0007c0006t0001others(5): Show | a0003c0021t0001g0008 a0005c0011t0002g0018 a0007c0006t0001g0004 others(5): Show |
8 | 24 | 0.3333 | -17 | c.-33 others(38): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113125010 | AGAAGGAC others(10): Show |
A | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 412 | 0.0024 | -17 | c.70+ others(32): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6164631 | CTCTCCCC others(10): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0054 | 1 | 292 | 0.0034 | -17 | c.190 others(36): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 13/14 | chr6 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113107271 | GGGGGCGT others(10): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0202 |
2 | 400 | 0.0050 | -17 | c.64+ others(32): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113107750 | GGCGTGGG others(10): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02280.hp2 HG02572.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0243 others(12): Show |
19 | 400 | 0.0475 | -17 | c.64+ others(32): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113107778 | CCCGGGAG others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(47): Show |
91 | 400 | 0.2275 | -17 | c.64+ others(32): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113107820 | TGTGCGTG others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(49): Show |
93 | 400 | 0.2325 | -17 | c.64+ others(32): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113108077 | TGGGTGTT others(10): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0010 | a0002c0010t0015 | a0002c0010t0015g0097 | 1 | 400 | 0.0025 | -17 | c.64+ others(32): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113108333 | TGGGTGTT others(10): Show |
T | intron_variant | MODIFIER | HG02129.hp2 HG02132.hp1 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0189 a0001c0001t0001g0209 |
4 | 400 | 0.0100 | -17 | c.65- others(32): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |