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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESYT3_chr3_138429616_138484925 | 138476440 | T | G | splice_region_variant others(1): Show |
LOW | HG02735.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0178 | 1 | 338 | 0.0030 | 0 | c.257 others(6): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 21/22 | chr3 | TogoVar | ||||||
ESYT3_chr3_138429616_138484925 | 138476495 | A | T | splice_region_variant others(1): Show |
LOW | HG02735.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0178 | 1 | 338 | 0.0030 | 0 | c.262 others(6): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 22/22 | chr3 | TogoVar | ||||||
ESYT3_chr3_138429616_138484925 | 138476497 | G | T | splice_region_variant others(1): Show |
LOW | HG02735.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0178 | 1 | 338 | 0.0030 | 0 | c.262 others(6): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 22/22 | chr3 | TogoVar | ||||||
ETAA1_chr2_67392333_67417089 | 67397679 | G | T | splice_region_variant others(1): Show |
LOW | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 394 | 0.0025 | 0 | c.223 others(5): Show |
ETAA1 | ENSG00000143971.9 | transcript | ENST00000272342.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76215354 | A | G | splice_region_variant | LOW | HG02055.hp1 HG02559.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0278a0001c0001t0006g0279a0001c0001t0006g0280others(2): Show | 5 | 336 | 0.0149 | 0 | c.*12 others(5): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 12/12 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76295584 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 336 | 0.0030 | 0 | c.186 others(5): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
ETFBKMT_chr12_31654688_31678114 | 31666216 | T | C | splice_region_variant others(1): Show |
LOW | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0011 | 1 | 452 | 0.0022 | 0 | c.444 others(3): Show |
p.Pro others(6): Show |
ETFBKMT | ENSG00000139160.13 | transcript | ENST00000357721.3 | protein_coding | 3/4 | 659/6128 | 444/789 | 148/262 | chr12 | TogoVar | ||
ETFBKMT_chr12_31654688_31678114 | 31666220 | A | G | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0023a0003c0003t0024 | a0003c0003t0023g0084a0003c0003t0023g0096a0003c0003t0024g0068others(1): Show | 4 | 452 | 0.0089 | 0 | c.445 others(5): Show |
ETFBKMT | ENSG00000139160.13 | transcript | ENST00000357721.3 | protein_coding | 3/3 | chr12 | TogoVar | ||||||
ETFBKMT_chr12_31654688_31678114 | 31667630 | C | CT | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(78): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0106a0001c0001t0004g0003a0001c0001t0004g0019others(35): Show | 81 | 452 | 0.1792 | 1 | c.446 others(6): Show |
ETFBKMT | ENSG00000139160.13 | transcript | ENST00000357721.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETFBKMT_chr12_31654688_31678114 | 31667630 | CT | C | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00544.hp1 NA18941.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0032others(1): Show | a0001c0001t0001g0105a0001c0001t0003g0014a0001c0001t0003g0043others(5): Show | 11 | 452 | 0.0243 | -1 | c.446 others(6): Show |
ETFBKMT | ENSG00000139160.13 | transcript | ENST00000357721.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETFB_chr19_51340169_51371388 | 51353294 | C | A | splice_region_variant others(1): Show |
LOW | NA18957.hp1 NA18986.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0196a0001c0001t0001g0256others(1): Show | 4 | 436 | 0.0092 | 0 | c.217 others(5): Show |
ETFB | ENSG00000105379.10 | transcript | ENST00000309244.9 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
ETNK1_chr12_22620171_22695665 | 22684475 | C | A | splice_region_variant others(1): Show |
LOW | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 318 | 0.0031 | 0 | c.946 others(5): Show |
ETNK1 | ENSG00000139163.16 | transcript | ENST00000266517.9 | protein_coding | 6/7 | chr12 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108743860 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01175.hp1 HG01243.hp1 others(29): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0038a0001c0001t0001g0039others(28): Show | 32 | 378 | 0.0847 | 0 | c.130 others(6): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108748163 | TA | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(140): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0038a0001c0001t0001g0039others(116): Show | 143 | 378 | 0.3783 | -1 | c.928 others(6): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108749470 | A | G | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02647.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0135a0001c0001t0001g0262others(1): Show | 4 | 378 | 0.0106 | 0 | c.702 others(5): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38806118 | A | G | splice_region_variant | LOW | HG00140.hp1 HG00280.hp2 HG00741.hp2 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(14): Show | a0001c0001t0005g0291a0001c0001t0005g0320a0001c0001t0005g0321others(62): Show | 72 | 426 | 0.1690 | 0 | c.-3A others(2): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 1/10 | chr21 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38806119 | G | C | splice_region_variant | LOW | HG00140.hp1 HG00280.hp2 HG00741.hp2 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(14): Show | a0001c0001t0005g0291a0001c0001t0005g0320a0001c0001t0005g0321others(62): Show | 72 | 426 | 0.1690 | 0 | c.-2G others(2): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 1/10 | chr21 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38821582 | G | A | splice_region_variant others(1): Show |
LOW | HG02896.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0340 | 1 | 426 | 0.0024 | 0 | c.107 others(6): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 8/9 | chr21 | TogoVar | ||||||
ETV1_chr7_13886229_13994666 | 13977479 | A | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0073 | 1 | 320 | 0.0031 | 0 | c.183 others(3): Show |
p.Ala others(5): Show |
ETV1 | ENSG00000006468.15 | transcript | ENST00000430479.6 | protein_coding | 6/14 | 571/6459 | 183/1434 | 61/477 | chr7 | TogoVar | ||
ETV4_chr17_43522846_43551340 | 43533988 | G | T | splice_region_variant others(1): Show |
LOW | HG02698.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0190 | 2 | 398 | 0.0050 | 0 | c.257 others(5): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 5/12 | chr17 | TogoVar | ||||||
ETV4_chr17_43522846_43551340 | 43545030 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02109.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0193a0001c0001t0001g0198others(2): Show | 5 | 398 | 0.0126 | 0 | c.155 others(5): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 3/12 | chr17 | TogoVar | ||||||
ETV4_chr17_43522846_43551340 | 43545372 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0172a0001c0001t0001g0230a0001c0001t0002g0001others(58): Show | 103 | 398 | 0.2588 | 0 | c.61- others(4): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 2/12 | chr17 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5615549 | A | G | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG03098.hp2 |
a0002a0007 | a0002c0053a0007c0028 | a0002c0053t0002a0007c0028t0002 | a0002c0053t0002g0159a0007c0028t0002g0223 | 2 | 292 | 0.0069 | 0 | c.270 others(6): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 15/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5625744 | T | C | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01884.hp2 HG02145.hp2 others(25): Show |
a0002a0003a0006others(5): Show | a0002c0007a0002c0012a0002c0017others(16): Show | a0002c0007t0002a0002c0012t0002a0002c0017t0001others(16): Show | a0002c0007t0002g0057a0002c0007t0002g0076a0002c0007t0002g0077others(25): Show | 28 | 292 | 0.0959 | 0 | c.204 others(6): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 13/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5632038 | G | A | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0020 | a0020c0070 | a0020c0070t0002 | a0020c0070t0002g0229 | 1 | 292 | 0.0034 | 0 | c.147 others(6): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 10/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5665512 | C | T | splice_region_variant others(1): Show |
LOW | NA19030.hp2 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0215 | 1 | 292 | 0.0034 | 0 | c.100 others(6): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 8/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5685372 | G | A | missense_variant others(1): Show |
MODERATE | HG02145.hp1 HG02622.hp2 HG03486.hp1 |
a0016a0032 | a0016c0059a0016c0061a0032c0060 | a0016c0059t0002a0016c0061t0002a0032c0060t0001 | a0016c0059t0002g0050a0016c0061t0002g0158a0032c0060t0001g0096 | 3 | 292 | 0.0103 | 0 | c.814 others(3): Show |
p.Arg others(6): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 6/22 | 860/4382 | 814/3927 | 272/1308 | chr4 | TogoVar | ||
EVC_chr4_5706201_5819305 | 5745186 | TTTC | T | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01109.hp2 HG01123.hp2 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0009a0001c0064a0002c0063others(14): Show | a0001c0009t0002a0001c0009t0006a0001c0009t0008others(22): Show | a0001c0009t0002g0134a0001c0009t0006g0075a0001c0009t0006g0200others(34): Show | 37 | 369 | 0.1003 | -3 | c.802 others(14): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EVC_chr4_5706201_5819305 | 5745345 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(171): Show |
a0001a0002a0003others(32): Show | a0001c0002a0001c0004a0001c0023others(55): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(77): Show | a0001c0002t0001g0133a0001c0002t0002g0060a0001c0002t0002g0061others(170): Show | 174 | 369 | 0.4715 | 0 | c.939 others(5): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 7/20 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5748304 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01891.hp1 HG02258.hp2 others(10): Show |
a0001a0004a0006others(8): Show | a0001c0071a0004c0088a0006c0033others(8): Show | a0001c0071t0017a0004c0088t0017a0006c0033t0004others(9): Show | a0001c0071t0017g0194a0004c0088t0017g0201a0006c0033t0004g0199others(10): Show | 13 | 369 | 0.0352 | 0 | c.109 others(4): Show |
p.Leu others(6): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 8/21 | 1276/6427 | 1096/2979 | 366/992 | chr4 | TogoVar | ||
EVC_chr4_5706201_5819305 | 5753931 | G | A | missense_variant others(1): Show |
MODERATE | HG04199.hp1 | a0042 | a0042c0051 | a0042c0051t0002 | a0042c0051t0002g0135 | 1 | 369 | 0.0027 | 0 | c.146 others(4): Show |
p.Glu others(6): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 10/21 | 1642/6427 | 1462/2979 | 488/992 | chr4 | TogoVar | ||
EVC_chr4_5706201_5819305 | 5753938 | C | T | splice_region_variant others(1): Show |
LOW | HG03486.hp1 | a0006 | a0006c0010 | a0006c0010t0008 | a0006c0010t0008g0094 | 1 | 369 | 0.0027 | 0 | c.146 others(6): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 10/20 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5753941 | A | G | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02630.hp1 HG02723.hp2 others(3): Show |
a0006 | a0006c0012 | a0006c0012t0001a0006c0012t0014a0006c0012t0027 | a0006c0012t0001g0359a0006c0012t0014g0188a0006c0012t0014g0190others(3): Show | 6 | 369 | 0.0163 | 0 | c.146 others(6): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 10/20 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5783546 | C | T | splice_region_variant others(1): Show |
LOW | NA18952.hp1 NA19054.hp2 |
a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0276a0003c0001t0002g0289 | 2 | 369 | 0.0054 | 0 | c.156 others(6): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 11/20 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5801942 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0003others(43): Show | a0001c0002a0001c0004a0001c0008others(81): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(121): Show | a0001c0002t0001g0133a0001c0002t0002g0060a0001c0002t0002g0061others(234): Show | 238 | 369 | 0.6450 | 0 | c.230 others(6): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 15/20 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5808197 | C | G | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02451.hp1 HG02818.hp1 others(7): Show |
a0001a0004a0006others(2): Show | a0001c0002a0001c0064a0004c0006others(4): Show | a0001c0002t0012a0001c0064t0012a0004c0006t0008others(4): Show | a0001c0002t0012g0170a0001c0064t0012g0191a0004c0006t0008g0361others(7): Show | 10 | 369 | 0.0271 | 0 | c.256 others(6): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 17/20 | chr4 | TogoVar | ||||||
EVI5L_chr19_7825218_7869976 | 7849992 | C | G | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02258.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0206a0001c0002t0002g0276a0001c0002t0002g0280others(7): Show | 10 | 396 | 0.0253 | 0 | c.628 others(5): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 5/19 | chr19 | TogoVar | ||||||
EVI5L_chr19_7825218_7869976 | 7862539 | A | G | splice_region_variant others(1): Show |
LOW | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 396 | 0.0025 | 0 | c.194 others(6): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 17/19 | chr19 | TogoVar | ||||||
EVI5L_chr19_7825218_7869976 | 7863411 | T | TC | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01517.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0060others(4): Show | 7 | 396 | 0.0177 | 1 | c.214 others(7): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EVL_chr14_100060422_100149236 | 100132713 | G | A | splice_region_variant others(1): Show |
LOW | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 354 | 0.0028 | 0 | c.840 others(5): Show |
EVL | ENSG00000196405.13 | transcript | ENST00000392920.8 | protein_coding | 7/13 | chr14 | TogoVar | ||||||
EVL_chr14_100060422_100149236 | 100141728 | C | T | splice_region_variant others(1): Show |
LOW | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 354 | 0.0028 | 0 | c.116 others(6): Show |
EVL | ENSG00000196405.13 | transcript | ENST00000392920.8 | protein_coding | 12/13 | chr14 | TogoVar | ||||||
EVPLL_chr17_18372778_18394647 | 18381520 | G | T | missense_variant others(1): Show |
MODERATE | HG01884.hp2 HG02559.hp1 HG02809.hp2 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0014a0003c0005t0005g0028 | 6 | 408 | 0.0147 | 0 | c.217 others(3): Show |
p.Asp others(5): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 3/11 | 459/1979 | 217/906 | 73/301 | chr17 | TogoVar | ||
EVPL_chr17_76001845_76032306 | 76011765 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(119): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0020others(20): Show | a0001c0001t0001a0001c0003t0001a0001c0020t0001others(20): Show | a0001c0001t0001g0013a0001c0001t0001g0077a0001c0001t0001g0078others(91): Show | 122 | 404 | 0.3020 | 0 | c.256 others(6): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 20/21 | chr17 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76015371 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(162): Show |
a0001a0003a0012others(8): Show | a0001c0001a0001c0022a0001c0053others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0077a0001c0001t0001g0078others(107): Show | 165 | 404 | 0.4084 | 0 | c.189 others(6): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 15/21 | chr17 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76019066 | G | A | splice_region_variant others(1): Show |
LOW | NA18966.hp1 NA18968.hp2 NA18987.hp1 others(3): Show |
a0002a0021 | a0002c0002a0021c0030 | a0002c0002t0001a0021c0030t0001 | a0002c0002t0001g0019a0002c0002t0001g0190a0002c0002t0001g0191others(1): Show | 6 | 404 | 0.0149 | 0 | c.113 others(6): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 10/21 | chr17 | TogoVar | ||||||
EWSR1_chr22_29263268_29305521 | 29272210 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02723.hp2 HG02809.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0140others(9): Show | 14 | 390 | 0.0359 | 0 | c.14- others(4): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 1/16 | chr22 | TogoVar | ||||||
EWSR1_chr22_29263268_29305521 | 29298902 | A | G | splice_region_variant others(1): Show |
LOW | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 390 | 0.0026 | 0 | c.158 others(6): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 14/16 | chr22 | TogoVar | ||||||
EWSR1_chr22_29263268_29305521 | 29300123 | G | A | missense_variant others(1): Show |
MODERATE | HG02451.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0273 | 1 | 390 | 0.0026 | 0 | c.193 others(4): Show |
p.Gly others(6): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 17/17 | 2002/2400 | 1933/1971 | 645/656 | chr22 | TogoVar | ||
EWSR1_chr22_29263268_29305521 | 29300520 | G | C | splice_region_variant | LOW | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 | 1 | 390 | 0.0026 | 0 | c.*35 others(4): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 17/17 | chr22 | TogoVar | ||||||
EXD1_chr15_41177728_41235757 | 41191433 | T | TA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(305): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(304): Show | 308 | 318 | 0.9686 | 1 | c.864 others(6): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 10/11 | chr15 | TogoVar |