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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIFM1_chrX_130124362_130170841 | 130135439 | T | TTTAA | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0132 | 1 | 262 | 0.0038 | 4 | c.130 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 12/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130146451 | A | ATGTG | intron_variant | MODIFIER | HG01978.hp1 HG03209.hp1 NA18952.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0160a0001c0001t0001g0162a0001c0001t0001g0172others(2): Show | 5 | 262 | 0.0191 | 4 | c.606 others(19): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130160883 | A | AAAAT | intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0152others(6): Show | 9 | 262 | 0.0344 | 4 | c.107 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70125437 | C | CAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0015 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0278others(3): Show | 8 | 468 | 0.0171 | 4 | c.-13 others(21): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70129003 | A | ATATT | intron_variant | MODIFIER | HG02056.hp1 HG03490.hp1 HG03492.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0007a0002c0011 | a0001c0001t0005a0002c0007t0039a0002c0011t0005 | a0001c0001t0005g0066a0001c0001t0005g0067a0002c0007t0039g0068others(1): Show | 4 | 468 | 0.0086 | 4 | c.-14 others(21): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTG | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01074.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(15): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(34): Show | 44 | 468 | 0.0940 | 4 | c.-38 others(15): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | ||||||
AIFM3_chr22_20962255_20986358 | 20984622 | G | GGGGT | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01496.hp1 HG01928.hp2 others(34): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0098a0001c0001t0001g0223a0001c0001t0002g0005others(23): Show | 37 | 456 | 0.0811 | 4 | c.*35 others(15): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 3265 | chr22 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143061117 | C | CGTGT | intron_variant | MODIFIER | HG01516.hp2 HG01891.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0010a0001c0001t0011a0001c0002t0003others(4): Show | a0001c0001t0010g0201a0001c0001t0011g0202a0001c0002t0003g0199others(4): Show | 7 | 204 | 0.0343 | 4 | c.141 others(17): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143061397 | C | CAACT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(110): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0156a0001c0001t0001g0161a0001c0001t0001g0165others(110): Show | 113 | 204 | 0.5539 | 4 | c.141 others(19): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143186056 | G | GCCCA | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02129.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0056a0001c0002t0002g0020a0001c0002t0002g0053others(2): Show | 5 | 204 | 0.0245 | 4 | c.399 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACAC | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0005g0017a0001c0002t0003g0199a0001c0002t0005g0070others(2): Show | 5 | 204 | 0.0245 | 4 | c.399 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143207538 | A | ACACG | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0010a0001c0002t0001others(1): Show | a0001c0001t0008g0192a0001c0001t0008g0193a0001c0001t0008g0195others(3): Show | 6 | 204 | 0.0294 | 4 | c.399 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143226234 | C | CTATA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0094a0001c0001t0001g0113a0001c0001t0001g0116others(27): Show | 30 | 204 | 0.1471 | 4 | c.400 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143251527 | A | ATTTG | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(127): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0116others(126): Show | 130 | 204 | 0.6373 | 4 | c.400 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143274673 | G | GATGA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00735.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0092a0001c0001t0001g0135a0001c0001t0001g0144others(45): Show | 48 | 204 | 0.2353 | 4 | c.400 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143287737 | T | TAAAA | intron_variant | MODIFIER | HG02056.hp1 HG02451.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0165a0001c0001t0001g0172a0001c0001t0002g0110others(5): Show | 8 | 204 | 0.0392 | 4 | c.515 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143345694 | A | ATTTT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02129.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0001g0144a0001c0001t0001g0171a0001c0001t0001g0173others(16): Show | 19 | 204 | 0.0931 | 4 | c.*60 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4637 | chr6 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TACAC | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp2 HG02055.hp2 others(17): Show |
a0000a0001 | a0000c0004a0001c0001a0001c0003 | a0000c0004t0001a0001c0001t0001a0001c0003t0001 | a0000c0004t0001g0110a0001c0001t0001g0007a0001c0001t0001g0024others(8): Show | 20 | 394 | 0.0508 | 4 | c.-21 others(21): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075574 | C | CATAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(54): Show |
a0000a0001a0003others(1): Show | a0000c0004a0001c0001a0003c0011others(1): Show | a0000c0004t0002a0001c0001t0002a0003c0011t0002others(1): Show | a0000c0004t0002g0165a0001c0001t0002g0002a0001c0001t0002g0012others(16): Show | 57 | 394 | 0.1447 | 4 | c.-21 others(21): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106329772 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02083.hp2 HG04199.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027a0002c0002t0002g0045a0002c0002t0002g0046others(6): Show | 13 | 384 | 0.0339 | 4 | c.391 others(21): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106349840 | T | TAACA | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0017 | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0008others(41): Show | 79 | 384 | 0.2057 | 4 | c.*21 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 385 | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAAAA | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0089others(4): Show | 7 | 384 | 0.0182 | 4 | c.*23 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106354214 | T | TACAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(28): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0033a0001c0001t0001g0034others(28): Show | 31 | 384 | 0.0807 | 4 | c.*65 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(132): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0030others(118): Show | 135 | 442 | 0.3054 | 4 | c.574 others(19): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIPL1_chr17_6418738_6440121 | 6429824 | G | GTAGA | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0002g0289a0001c0001t0002g0329a0001c0001t0008g0227others(3): Show | 6 | 454 | 0.0132 | 4 | c.277 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(25): Show |
a0001a0002a0006 | a0001c0002a0002c0003a0006c0014 | a0001c0002t0001a0001c0002t0007a0001c0002t0017others(7): Show | a0001c0002t0001g0142a0001c0002t0007g0343a0001c0002t0007g0350others(21): Show | 28 | 454 | 0.0617 | 4 | c.277 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0050a0001c0002t0001others(21): Show | a0001c0001t0002g0035a0001c0001t0002g0039a0001c0001t0002g0213others(60): Show | 94 | 454 | 0.2071 | 4 | c.276 others(19): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6434356 | C | CTTTT | intron_variant | MODIFIER | HG01952.hp1 HG02074.hp2 HG02145.hp2 others(4): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0006 | a0001c0002t0003a0001c0002t0021a0001c0002t0065others(3): Show | a0001c0002t0003g0132a0001c0002t0021g0131a0001c0002t0065g0133others(3): Show | 7 | 454 | 0.0154 | 4 | c.97- others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
AIP_chr11_67478026_67496103 | 67489888 | A | ATGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(52): Show | 291 | 342 | 0.8509 | 4 | c.469 others(19): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AIRE_chr21_44280876_44303648 | 44282924 | A | AAAAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(276): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(40): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(178): Show | 279 | 426 | 0.6549 | 4 | c.-30 others(15): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 2951 | chr21 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299197 | T | TACAC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(60): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0002others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0164others(37): Show | 63 | 426 | 0.1479 | 4 | c.*14 others(15): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4662046 | T | TTGTG | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01168.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0154a0001c0001t0164others(11): Show | a0001c0001t0004g0001a0001c0001t0154g0045a0001c0001t0164g0032others(17): Show | 21 | 334 | 0.0629 | 4 | c.29+ others(19): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4679381 | G | GATGA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00673.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0023others(20): Show | a0001c0001t0003g0318a0001c0001t0008g0299a0001c0001t0023g0012others(20): Show | 23 | 334 | 0.0689 | 4 | c.29+ others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0013a0001c0001t0066others(23): Show | a0001c0001t0004g0059a0001c0001t0013g0169a0001c0001t0013g0195others(25): Show | 28 | 334 | 0.0838 | 4 | c.29+ others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4733422 | C | CCATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(82): Show | a0001c0001t0001g0097a0001c0001t0001g0125a0001c0001t0003g0145others(103): Show | 106 | 334 | 0.3174 | 4 | c.829 others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4748747 | C | CAAAA | intron_variant | MODIFIER | HG02129.hp1 HG02602.hp1 HG03491.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0024a0001c0002t0034a0001c0002t0039others(4): Show | a0001c0001t0024g0016a0001c0002t0034g0005a0001c0002t0039g0111others(4): Show | 8 | 334 | 0.0240 | 4 | c.830 others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4768329 | C | CTGTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(34): Show | a0001c0001t0004g0001a0001c0001t0004g0059a0001c0001t0005g0196others(49): Show | 53 | 334 | 0.1587 | 4 | c.830 others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4778571 | A | ATCTC | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01074.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0018a0001c0001t0049a0001c0001t0203others(15): Show | a0001c0001t0018g0312a0001c0001t0049g0276a0001c0001t0203g0272others(17): Show | 20 | 334 | 0.0599 | 4 | c.*60 others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4783471 | G | GTATA | 3_prime_UTR_variant | MODIFIER | HG02027.hp1 HG02074.hp2 HG04204.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0163a0001c0005t0096a0002c0004t0194 | a0001c0001t0163g0056a0001c0005t0096g0214a0002c0004t0194g0265 | 3 | 334 | 0.0090 | 4 | c.*10 others(15): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 9012 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AJUBA_chr14_22966177_22987551 | 22972334 | A | AAAGT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(129): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0020others(34): Show | 132 | 334 | 0.3952 | 4 | c.*11 others(15): Show |
AJUBA | ENSG00000129474.17 | transcript | ENST00000262713.7 | protein_coding | 8/8 | 1108 | chr14 | TogoVar | |||||
AK1_chr9_127861486_127882675 | 127866078 | A | AGTGT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01070.hp1 others(52): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0003g0011a0001c0001t0003g0015a0001c0001t0003g0023others(38): Show | 55 | 426 | 0.1291 | 4 | c.*19 others(15): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 407 | chr9 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127870200 | C | CTTTT | intron_variant | MODIFIER | HG00558.hp1 HG04115.hp2 HG04184.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0076a0001c0001t0001g0175others(15): Show | 22 | 426 | 0.0516 | 4 | c.324 others(21): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127879066 | A | AACAC | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01081.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0049a0001c0001t0001g0061a0001c0001t0001g0064others(16): Show | 21 | 426 | 0.0493 | 4 | c.-14 others(15): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 1392 | chr9 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127881054 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 202 | 426 | 0.4742 | 4 | c.-34 others(15): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 3380 | chr9 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33020188 | A | AACAC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0083others(10): Show | 18 | 350 | 0.0514 | 4 | c.425 others(21): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33025188 | C | CAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02080.hp2 HG02083.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0031 | a0001c0001t0002g0040a0001c0001t0002g0189a0001c0001t0002g0206others(7): Show | 11 | 350 | 0.0314 | 4 | c.94- others(17): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33034449 | T | TACAC | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01256.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050a0001c0001t0001g0162a0001c0001t0001g0163others(8): Show | 12 | 350 | 0.0343 | 4 | c.93+ others(19): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4715391 | C | CTTTT | intron_variant | MODIFIER | HG01361.hp2 NA18939.hp2 NA18944.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0076 | a0001c0001t0003g0049a0001c0001t0003g0268a0001c0001t0003g0327others(4): Show | 9 | 462 | 0.0195 | 4 | c.564 others(21): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4719039 | G | GGTCA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(166): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0182others(162): Show | 169 | 462 | 0.3658 | 4 | c.444 others(17): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 3/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4720689 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(112): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0047a0001c0001t0001g0069a0001c0001t0001g0070others(110): Show | 115 | 462 | 0.2489 | 4 | c.272 others(21): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 2/4 | chr9 | TogoVar |