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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP5F1E_chr20_59020475_59037335 | 59032276 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03654.hp1 HG03710.hp1 HG03927.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027 | a0001c0001t0006g0008 a0001c0001t0027g0059 |
5 | 402 | 0.0124 | 0 | c.-25 others(3): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
ATP5MC3_chr2_175171258_175186710 | 175181663 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0031 | 1 | 388 | 0.0026 | 0 | c.-81 others(3): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ATP5MC3_chr2_175171258_175186710 | 175181680 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00733.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0010 a0001c0001t0020g0032 |
6 | 388 | 0.0155 | 0 | c.-98 others(3): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ATP5MC3_chr2_175171258_175186710 | 175181687 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(273): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(26): Show |
276 | 388 | 0.7113 | 0 | c.-10 others(4): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ATP5MC3_chr2_175171258_175186710 | 175181691 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0049 | 1 | 388 | 0.0026 | 0 | c.-10 others(4): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42640536 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp1 HG02055.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0000 | 5 | 372 | 0.0134 | 0 | c.-26 others(4): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | chr22 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103921487 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0187 | 1 | 438 | 0.0023 | 0 | c.-18 others(3): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103921493 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0188 | 1 | 438 | 0.0023 | 0 | c.-24 others(3): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
ATP5MK_chr10_103384050_103401475 | 103395888 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(173): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0007 others(32): Show |
176 | 436 | 0.4037 | 0 | c.-15 others(4): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ATP5MK_chr10_103384050_103401475 | 103396448 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 436 | 0.0023 | 0 | c.-33 others(4): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ATP5PD_chr17_75033863_75051969 | 75046948 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0121 | 1 | 426 | 0.0023 | 0 | c.-33 others(3): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
ATP6AP2_chrX_40575970_40611848 | 40581031 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 297 | 0.0034 | 0 | c.-35 others(3): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/9 | chrX | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138798082 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0372 | 1 | 374 | 0.0027 | 0 | c.-16 others(4): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
ATP6V0D1_chr16_67433019_67486157 | 67481105 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0148 | 1 | 172 | 0.0058 | 0 | c.-19 others(3): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
ATP6V0E2_chr7_149868969_149885695 | 149873996 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0003 | 1 | 436 | 0.0023 | 0 | c.-70 others(3): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17628665 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00408.hp2 HG00639.hp2 others(143): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 others(133): Show |
146 | 368 | 0.3967 | 0 | c.-30 others(3): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46541427 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0258 | 1 | 408 | 0.0025 | 0 | c.-34 others(4): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46542451 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0050 | 1 | 408 | 0.0025 | 0 | c.-60 others(4): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ATP6V1FNB_chr7_128861330_128877047 | 128866336 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01099.hp2 HG01891.hp1 HG02056.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0004g0004 a0001c0001t0005g0009 a0001c0001t0005g0014 others(3): Show |
36 | 440 | 0.0818 | 0 | c.-74 others(3): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114587808 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019 | a0001c0001t0018g0134 a0001c0001t0019g0014 |
2 | 418 | 0.0048 | 0 | c.-31 others(3): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 52011391 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 HG02257.hp2 |
a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0155 a0003c0003t0013g0156 |
2 | 300 | 0.0067 | 0 | c.-54 others(3): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/21 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42657053 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0012 | 1 | 308 | 0.0032 | 0 | c.-18 others(4): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/37 | chr4 | TogoVar | |||||||
ATPAF2_chr17_18013021_18044168 | 18039098 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0272 | 1 | 326 | 0.0031 | 0 | c.-85 others(3): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115093637 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 126 | 0.0079 | 0 | c.-11 others(4): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/29 | chr10 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16585814 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00642.hp1 | a0001 | a0001c0008 | a0001c0008t0046 | a0001c0008t0046g0062 | 1 | 180 | 0.0056 | 0 | c.-39 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16761415 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-84 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
ATXN3L_chrX_13313647_13325053 | 13319969 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01168.hp2 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 2 | 315 | 0.0063 | 0 | c.-35 others(3): Show |
ATXN3L | ENSG00000123594.7 | transcript | ENST00000380622.5 | protein_coding | 1/1 | chrX | TogoVar | |||||||
AURKAIP1_chr1_1368736_1380207 | 1375162 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18941.hp2 NA18948.hp2 NA18949.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 14 | 356 | 0.0393 | 0 | c.-43 others(3): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57231104 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(48): Show |
359 | 408 | 0.8799 | 0 | c.-14 others(4): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57231121 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(42): Show |
320 | 408 | 0.7843 | 0 | c.-12 others(4): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69598615 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0017 | 1 | 76 | 0.0132 | 0 | c.-10 others(5): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97687180 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 444 | 0.0023 | 0 | c.-42 others(4): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97687231 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(261): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(110): Show |
264 | 444 | 0.5946 | 0 | c.-47 others(4): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63151078 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp1 HG00558.hp1 HG00609.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0056 | a0001c0001t0004g0004 a0001c0001t0004g0034 a0001c0001t0004g0035 others(12): Show |
44 | 446 | 0.0987 | 0 | c.-24 others(4): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63151110 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0057 | a0001c0013t0057g0128 | 1 | 446 | 0.0022 | 0 | c.-27 others(4): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206117373 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp1 HG02055.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0085a0001c0001t0086a0001c0004t0023others(1): Show | a0001c0001t0085g0124 a0001c0001t0086g0125 a0001c0004t0023g0031 others(1): Show |
7 | 394 | 0.0178 | 0 | c.-48 others(4): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 352434 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01928.hp2 HG01952.hp1 HG01975.hp1 others(4): Show |
a0001a0008 | a0001c0001a0008c0020 | a0001c0001t0009a0008c0020t0009 | a0001c0001t0009g0001 a0001c0001t0009g0371 a0001c0001t0009g0372 others(2): Show |
7 | 376 | 0.0186 | 0 | c.-14 others(4): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65558725 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03516.hp1 | a0014 | a0014c0025 | a0014c0025t0023 | a0014c0025t0023g0095 | 1 | 400 | 0.0025 | 0 | c.-10 others(4): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2/11 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41219353 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02630.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0158 a0001c0001t0032g0159 a0001c0001t0032g0283 |
3 | 312 | 0.0096 | 0 | c.-40 others(3): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102863955 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(59): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0014others(3): Show | a0001c0002t0004g0008 a0001c0002t0004g0023 a0001c0002t0004g0038 others(45): Show |
62 | 378 | 0.1640 | 0 | c.-38 others(4): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102864031 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0225 | 1 | 378 | 0.0026 | 0 | c.-45 others(4): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102864145 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp1 HG01071.hp2 HG01433.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 a0001c0001t0008g0267 a0001c0001t0008g0268 others(2): Show |
14 | 378 | 0.0370 | 0 | c.-57 others(4): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102864150 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18953.hp1 NA18967.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0271 a0001c0003t0010g0272 a0001c0003t0010g0273 others(1): Show |
4 | 378 | 0.0106 | 0 | c.-57 others(4): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
B2M_chr15_44706517_44723145 | 44711543 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 384 | 0.0026 | 0 | c.-4C others(2): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
B3GALNT1_chr3_161078883_161110349 | 161101213 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0119 | 1 | 398 | 0.0025 | 0 | c.-10 others(4): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
B3GALNT1_chr3_161078883_161110349 | 161104335 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp1 HG00642.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | 2 | 398 | 0.0050 | 0 | c.-23 others(4): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167293061 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00673.hp1 HG01169.hp1 HG01346.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0042a0001c0001t0043others(4): Show | a0001c0001t0019g0020 a0001c0001t0019g0117 a0001c0001t0042g0045 others(5): Show |
8 | 116 | 0.0690 | 0 | c.-78 others(4): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167293276 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0115 | 1 | 116 | 0.0086 | 0 | c.-56 others(4): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
B3GALT2_chr1_193173730_193191613 | 193186294 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0049 | 1 | 396 | 0.0025 | 0 | c.-39 others(4): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
B3GALT9_chr9_120788467_120806787 | 120793524 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp1 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0018 | 2 | 402 | 0.0050 | 0 | c.-58 others(4): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 1/3 | chr9 | TogoVar |