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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA13_chr8_123675794_123742393 | 123688953 | C | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp1 HG00738.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0005c0005t0008 | a0001c0001t0003g0070a0001c0001t0003g0072a0001c0001t0003g0210others(1): Show | 4 | 374 | 0.0107 | 0 | c.643 others(5): Show |
ANXA13 | ENSG00000104537.17 | transcript | ENST00000419625.6 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
ANXA13_chr8_123675794_123742393 | 123695585 | C | T | splice_region_variant others(1): Show |
LOW | HG01168.hp2 HG01169.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0105others(3): Show | 7 | 374 | 0.0187 | 0 | c.392 others(5): Show |
ANXA13 | ENSG00000104537.17 | transcript | ENST00000419625.6 | protein_coding | 5/10 | chr8 | TogoVar | ||||||
ANXA1_chr9_73146865_73175393 | 73151922 | A | G | splice_region_variant | LOW | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(63): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0006a0001c0002t0002g0012others(20): Show | 66 | 428 | 0.1542 | 0 | c.-17 others(3): Show |
ANXA1 | ENSG00000135046.14 | transcript | ENST00000257497.11 | protein_coding | 1/13 | chr9 | TogoVar | ||||||
ANXA1_chr9_73146865_73175393 | 73159322 | T | C | splice_region_variant others(1): Show |
LOW | HG02717.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0155 | 4 | 428 | 0.0094 | 0 | c.176 others(5): Show |
ANXA1 | ENSG00000135046.14 | transcript | ENST00000257497.11 | protein_coding | 3/12 | chr9 | TogoVar | ||||||
ANXA1_chr9_73146865_73175393 | 73160383 | C | T | splice_region_variant others(1): Show |
LOW | HG03710.hp1 HG03831.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0145a0005c0007t0001g0151 | 2 | 428 | 0.0047 | 0 | c.384 others(5): Show |
ANXA1 | ENSG00000135046.14 | transcript | ENST00000257497.11 | protein_coding | 5/12 | chr9 | TogoVar | ||||||
ANXA1_chr9_73146865_73175393 | 73163535 | A | G | splice_region_variant others(1): Show |
LOW | HG02922.hp1 HG03195.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094a0001c0001t0003g0098a0001c0001t0003g0099 | 3 | 428 | 0.0070 | 0 | c.612 others(5): Show |
ANXA1 | ENSG00000135046.14 | transcript | ENST00000257497.11 | protein_coding | 8/12 | chr9 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60351190 | T | C | splice_region_variant others(1): Show |
LOW | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 334 | 0.0030 | 0 | c.837 others(5): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60352481 | G | A | splice_region_variant others(1): Show |
LOW | HG01192.hp2 HG02602.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0013others(5): Show | 9 | 334 | 0.0270 | 0 | c.589 others(5): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
ANXA3_chr4_78546770_78615447 | 78579027 | G | T | missense_variant others(1): Show |
MODERATE | HG03831.hp2 | a0009 | a0009c0013 | a0009c0013t0003 | a0009c0013t0003g0228 | 1 | 330 | 0.0030 | 0 | c.104 others(3): Show |
p.Gly others(5): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 4/13 | 232/1432 | 104/972 | 35/323 | chr4 | TogoVar | ||
ANXA3_chr4_78546770_78615447 | 78586257 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG01099.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099a0001c0001t0002g0100a0001c0001t0002g0101 | 3 | 330 | 0.0091 | 0 | c.313 others(5): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
ANXA3_chr4_78546770_78615447 | 78597320 | A | G | splice_region_variant others(1): Show |
LOW | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0074 | 1 | 330 | 0.0030 | 0 | c.636 others(3): Show |
p.Thr others(6): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 10/13 | 764/1432 | 636/972 | 212/323 | chr4 | TogoVar | ||
ANXA3_chr4_78546770_78615447 | 78610048 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(78): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0003g0002a0001c0001t0003g0009a0001c0001t0003g0010others(73): Show | 81 | 330 | 0.2455 | 0 | c.913 others(5): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 12/12 | chr4 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69788049 | C | T | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(93): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0049a0001c0001t0001g0224a0001c0001t0002g0171others(92): Show | 96 | 346 | 0.2775 | 0 | c.10- others(4): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ANXA5_chr4_121662946_121701980 | 121669728 | T | TA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(126): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(66): Show | 129 | 338 | 0.3817 | 1 | c.781 others(6): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
ANXA5_chr4_121662946_121701980 | 121669728 | TA | T | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01516.hp1 HG02015.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0044a0001c0001t0002g0085a0001c0001t0002g0086others(6): Show | 11 | 338 | 0.0325 | -1 | c.781 others(6): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151103696 | G | C | splice_region_variant others(1): Show |
LOW | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 408 | 0.0025 | 0 | c.184 others(6): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 24/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151129527 | G | T | splice_region_variant others(1): Show |
LOW | NA19066.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0381 | 1 | 408 | 0.0025 | 0 | c.798 others(3): Show |
p.Gly others(6): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 12/26 | 923/2889 | 798/2022 | 266/673 | chr5 | TogoVar | ||
ANXA6_chr5_151095706_151162779 | 151132575 | C | T | splice_region_variant others(1): Show |
LOW | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 408 | 0.0025 | 0 | c.641 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 9/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151132576 | G | A | splice_region_variant others(1): Show |
LOW | NA18956.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0225 | 1 | 408 | 0.0025 | 0 | c.641 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 9/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151137326 | G | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0016others(285): Show | 306 | 408 | 0.7500 | 0 | c.319 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 5/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151138797 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(290): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0046others(272): Show | 293 | 408 | 0.7181 | 0 | c.205 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 4/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151138798 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(290): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0046others(272): Show | 293 | 408 | 0.7181 | 0 | c.205 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 4/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151139447 | C | A | missense_variant others(1): Show |
MODERATE | HG01993.hp1 | a0009 | a0009c0020 | a0009c0020t0001 | a0009c0020t0001g0220 | 1 | 408 | 0.0025 | 0 | c.110 others(3): Show |
p.Gly others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 4/26 | 235/2889 | 110/2022 | 37/673 | chr5 | TogoVar | ||
ANXA7_chr10_73370101_73419058 | 73387786 | G | GGAA | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(80): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0002t0008a0001c0007t0007 | a0001c0002t0002g0007a0001c0002t0002g0008a0001c0002t0002g0009others(73): Show | 83 | 264 | 0.3144 | 3 | c.539 others(14): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 6/12 | chr10 | TogoVar | ||||||
ANXA8L1_chr10_46370776_46396778 | 46381138 | C | A | splice_region_variant others(1): Show |
LOW | HG01106.hp1 HG01123.hp1 HG01167.hp1 others(14): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0023others(3): Show | 17 | 390 | 0.0436 | 0 | c.113 others(5): Show |
ANXA8L1 | ENSG00000264230.9 | transcript | ENST00000619162.5 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
ANXA8L1_chr10_46370776_46396778 | 46385713 | G | T | splice_region_variant others(1): Show |
LOW | HG02155.hp2 NA18975.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0001 | 2 | 390 | 0.0051 | 0 | c.648 others(3): Show |
p.Val others(6): Show |
ANXA8L1 | ENSG00000264230.9 | transcript | ENST00000619162.5 | protein_coding | 9/12 | 724/1908 | 648/984 | 216/327 | chr10 | TogoVar | ||
ANXA8L1_chr10_46370776_46396778 | 46390863 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(153): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0005a0001c0001t0013a0001c0002t0002others(26): Show | a0001c0001t0005g0050a0001c0001t0013g0063a0001c0002t0002g0002others(80): Show | 156 | 390 | 0.4000 | 0 | c.925 others(5): Show |
ANXA8L1 | ENSG00000264230.9 | transcript | ENST00000619162.5 | protein_coding | 11/11 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47468914 | C | T | splice_region_variant others(1): Show |
LOW | HG02886.hp1 HG02976.hp1 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0014a0002c0004a0002c0024 | a0001c0014t0007a0002c0004t0001a0002c0024t0010 | a0001c0014t0007g0051a0002c0004t0001g0184a0002c0024t0010g0078 | 4 | 412 | 0.0097 | 0 | c.925 others(5): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 11/11 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47474398 | C | T | missense_variant others(1): Show |
MODERATE | HG03491.hp2 | a0011 | a0011c0023 | a0011c0023t0002 | a0011c0023t0002g0079 | 1 | 412 | 0.0024 | 0 | c.553 others(3): Show |
p.Asp others(6): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 8/12 | 735/2020 | 553/984 | 185/327 | chr10 | TogoVar | ||
ANXA8_chr10_47462993_47489115 | 47477201 | C | T | splice_region_variant others(1): Show |
LOW | HG01192.hp2 HG02451.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0158a0001c0001t0001g0159others(2): Show | 9 | 412 | 0.0218 | 0 | c.208 others(5): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
ANXA9_chr1_150977292_151000634 | 150987874 | A | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(191): Show |
a0001a0003a0006others(5): Show | a0001c0002a0003c0004a0006c0006others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0001a0001c0002t0001g0009a0001c0002t0001g0010others(82): Show | 194 | 398 | 0.4874 | 0 | c.615 others(3): Show |
p.Ala others(6): Show |
ANXA9 | ENSG00000143412.10 | transcript | ENST00000368947.9 | protein_coding | 10/14 | 816/1551 | 615/1038 | 205/345 | chr1 | TogoVar | ||
AOAH_chr7_36507941_36729494 | 36576569 | C | T | splice_region_variant others(1): Show |
LOW | HG03041.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0094 | 2 | 306 | 0.0065 | 0 | c.102 others(6): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 13/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36621703 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0002 | 1 | 306 | 0.0033 | 0 | c.653 others(5): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 8/20 | chr7 | TogoVar | ||||||
AOC3_chr17_42846199_42863124 | 42856277 | T | C | splice_region_variant others(1): Show |
LOW | HG02055.hp2 | a0012 | a0012c0019 | a0012c0019t0004 | a0012c0019t0004g0014 | 1 | 284 | 0.0035 | 0 | c.201 others(4): Show |
p.Asp others(6): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 4/4 | 2164/4011 | 2019/2292 | 673/763 | chr17 | TogoVar | ||
AOPEP_chr9_94721699_95092159 | 95005219 | A | C | missense_variant others(1): Show |
MODERATE | NA18969.hp1 NA18971.hp2 NA18977.hp1 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0113a0005c0005t0001g0114a0005c0005t0001g0116others(2): Show | 5 | 182 | 0.0275 | 0 | c.203 others(4): Show |
p.Glu others(6): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 12/17 | 2227/3130 | 2039/2460 | 680/819 | chr9 | TogoVar | ||
AOX1_chr2_200581014_200676495 | 200604009 | C | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(105): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0117a0001c0001t0001g0120a0001c0001t0001g0121others(104): Show | 108 | 370 | 0.2919 | 0 | c.589 others(5): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 7/34 | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200605631 | G | A | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01243.hp2 HG02559.hp1 others(5): Show |
a0001a0013a0017 | a0001c0001a0013c0021a0017c0032 | a0001c0001t0001a0013c0021t0001a0017c0032t0001 | a0001c0001t0001g0205a0001c0001t0001g0257a0001c0001t0001g0258others(5): Show | 8 | 370 | 0.0216 | 0 | c.907 others(5): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 10/34 | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200613804 | G | A | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0353 | 1 | 370 | 0.0027 | 0 | c.144 others(4): Show |
p.Arg others(6): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 15/35 | 1544/4928 | 1449/4017 | 483/1338 | chr2 | TogoVar | ||
AOX1_chr2_200581014_200676495 | 200616069 | C | T | splice_region_variant others(1): Show |
LOW | HG01192.hp2 HG01358.hp2 HG01361.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0069a0002c0002t0003g0006a0002c0002t0003g0039others(10): Show | 13 | 370 | 0.0351 | 0 | c.170 others(6): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 16/34 | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29339132 | A | T | missense_variant others(1): Show |
MODERATE | HG02080.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0167 | 1 | 378 | 0.0027 | 0 | c.202 others(4): Show |
p.Ile others(6): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 16/23 | 2195/4165 | 2021/2850 | 674/949 | chr22 | TogoVar | ||
AP1G1_chr16_71724000_71813834 | 71733162 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG02523.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040 | a0001c0001t0002g0264a0001c0001t0002g0265a0001c0001t0040g0238 | 3 | 320 | 0.0094 | 0 | c.236 others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 22/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71746582 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0044a0001c0001t0002g0133a0001c0001t0002g0194others(119): Show | 122 | 320 | 0.3813 | 0 | c.173 others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 17/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71746696 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0044a0001c0001t0002g0133a0001c0001t0002g0194others(120): Show | 123 | 320 | 0.3844 | 0 | c.162 others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71764642 | T | C | splice_region_variant others(1): Show |
LOW | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0064 | 1 | 320 | 0.0031 | 0 | c.819 others(5): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 8/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71771257 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(285): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0002g0044a0001c0001t0002g0133a0001c0001t0002g0194others(284): Show | 288 | 320 | 0.9000 | 0 | c.469 others(5): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 4/22 | chr16 | TogoVar | ||||||
AP1G2_chr14_23554567_23572791 | 23563861 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(38): Show |
a0001a0008a0009others(1): Show | a0001c0001a0008c0012a0009c0011others(1): Show | a0001c0001t0001a0008c0012t0002a0009c0011t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0027others(7): Show | 41 | 396 | 0.1035 | 0 | c.109 others(6): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 11/21 | chr14 | TogoVar | ||||||
AP1G2_chr14_23554567_23572791 | 23564142 | GATGTCAG others(11): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00609.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0094 | 1 | 396 | 0.0025 | -18 | c.978 others(27): Show |
p.Arg others(5): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 11/22 | 1052/2598 | 978/2358 | 326/785 | chr14 | TogoVar | ||
AP1G2_chr14_23554567_23572791 | 23564163 | G | C | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02280.hp1 HG02486.hp1 others(12): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0013 | a0001c0001t0001a0001c0007t0001a0006c0013t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0040others(5): Show | 15 | 396 | 0.0379 | 0 | c.978 others(5): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 10/21 | chr14 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16234282 | A | G | splice_region_variant others(1): Show |
LOW | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0246 | 1 | 308 | 0.0033 | 0 | c.124 others(6): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 11/11 | chr19 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101157373 | G | A | splice_region_variant others(1): Show |
LOW | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 432 | 0.0023 | 0 | c.183 others(5): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 2/4 | chr7 | TogoVar |