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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIG1_chr6_143055889_143346058 | 143335530 | C | CAA | intron_variant | MODIFIER | HG01169.hp2 HG03098.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0116a0001c0001t0001g0156a0001c0001t0001g0177others(2): Show | 5 | 204 | 0.0245 | 2 | c.679 others(19): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIM2_chr1_159057484_159081766 | 159061558 | A | ATT | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01516.hp2 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0040others(5): Show | 10 | 394 | 0.0254 | 2 | c.*11 others(13): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 925 | chr1 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TAC | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp2 HG02559.hp1 others(16): Show |
a0000a0001 | a0000c0005a0001c0001a0001c0009 | a0000c0005t0001a0001c0001t0001a0001c0009t0001 | a0000c0005t0001g0148a0001c0001t0001g0015a0001c0001t0001g0026others(8): Show | 19 | 394 | 0.0482 | 2 | c.-21 others(19): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075572 | C | CAT | intron_variant | MODIFIER | HG00597.hp2 HG03492.hp1 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 6 | 394 | 0.0152 | 2 | c.-21 others(19): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075574 | C | CAT | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0040a0001c0003t0002g0170 | 3 | 394 | 0.0076 | 2 | c.-21 others(19): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075596 | C | CTA | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA18978.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0163a0002c0002t0001g0080a0002c0002t0001g0113 | 3 | 394 | 0.0076 | 2 | c.-21 others(19): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075611 | T | TAG | intron_variant | MODIFIER | HG01099.hp2 HG01978.hp2 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0135a0001c0001t0001g0136others(2): Show | 7 | 394 | 0.0178 | 2 | c.-21 others(19): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106314616 | A | ATT | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02080.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0041others(6): Show | 10 | 384 | 0.0260 | 2 | c.-20 others(13): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1933 | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106327255 | C | CCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0047a0001c0001t0001g0191a0001c0001t0001g0243others(14): Show | 19 | 384 | 0.0495 | 2 | c.110 others(17): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106329042 | C | CTT | intron_variant | MODIFIER | HG02074.hp1 HG02083.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0077a0001c0001t0003g0078a0001c0001t0008g0170others(3): Show | 6 | 384 | 0.0156 | 2 | c.391 others(17): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106329772 | C | CTT | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG01069.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0154others(23): Show | 44 | 384 | 0.1146 | 2 | c.391 others(19): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106332614 | C | CAT | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0101a0001c0001t0001g0141others(2): Show | 6 | 384 | 0.0156 | 2 | c.603 others(17): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106333839 | G | GCT | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0008others(49): Show | 89 | 384 | 0.2318 | 2 | c.603 others(19): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106336264 | A | AAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0191a0001c0001t0001g0243others(5): Show | 9 | 384 | 0.0234 | 2 | c.604 others(17): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00673.hp1 others(28): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0007a0004c0004t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0021others(26): Show | 31 | 384 | 0.0807 | 2 | c.*23 others(13): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106354214 | T | TAC | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(76): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0011others(56): Show | 79 | 384 | 0.2057 | 2 | c.*65 others(13): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6004715 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01069.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0015a0001c0001t0002g0038a0001c0001t0002g0039others(31): Show | 40 | 442 | 0.0905 | 2 | c.-46 others(13): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 4556 | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009966 | A | AAT | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0057a0001c0001t0001g0058others(2): Show | 6 | 442 | 0.0136 | 2 | c.135 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009993 | G | GTA | intron_variant | MODIFIER | NA18955.hp1 NA18957.hp1 NA19055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0266 | 4 | 442 | 0.0091 | 2 | c.135 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6014250 | C | CTT | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01168.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0131a0001c0001t0001g0150a0001c0001t0001g0154others(8): Show | 11 | 442 | 0.0249 | 2 | c.136 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6017522 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(53): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0010t0001others(1): Show | a0001c0001t0001g0122a0001c0001t0001g0222a0001c0001t0001g0246others(50): Show | 56 | 442 | 0.1267 | 2 | c.343 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6018146 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01069.hp1 others(55): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0004c0009t0002 | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0037others(46): Show | 58 | 442 | 0.1312 | 2 | c.574 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6020020 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01069.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0131a0001c0001t0001g0154a0001c0001t0002g0014others(44): Show | 56 | 442 | 0.1267 | 2 | c.574 others(19): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6020033 | A | AAG | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00673.hp2 others(45): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0005c0005others(2): Show | a0001c0001t0001a0002c0003t0001a0005c0005t0001others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0017others(37): Show | 48 | 442 | 0.1086 | 2 | c.574 others(19): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6021338 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(122): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0032others(105): Show | 125 | 442 | 0.2828 | 2 | c.575 others(19): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIPL1_chr17_6418738_6440121 | 6420739 | C | CTT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01928.hp2 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0049a0001c0002t0003others(3): Show | a0001c0001t0002g0299a0001c0001t0049g0277a0001c0002t0003g0002others(5): Show | 8 | 454 | 0.0176 | 2 | c.*47 others(13): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2998 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6425307 | G | GTT | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01891.hp2 HG02071.hp2 others(20): Show |
a0001a0006 | a0001c0002a0001c0004a0006c0014 | a0001c0002t0007a0001c0002t0015a0001c0002t0017others(4): Show | a0001c0002t0007g0045a0001c0002t0007g0343a0001c0002t0007g0349others(18): Show | 23 | 454 | 0.0507 | 2 | c.*15 others(11): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 6/6 | 152 | chr17 | TogoVar | |||||
AIPL1_chr17_6418738_6440121 | 6430044 | G | GGT | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01255.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0041a0001c0001t0002g0044a0001c0001t0002g0217others(15): Show | 25 | 454 | 0.0551 | 2 | c.277 others(19): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAA | intron_variant | MODIFIER | HG00597.hp1 HG01346.hp2 HG01433.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0050others(8): Show | a0001c0001t0002g0297a0001c0001t0002g0298a0001c0001t0002g0299others(10): Show | 13 | 454 | 0.0286 | 2 | c.277 others(19): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6432636 | C | CTT | intron_variant | MODIFIER | HG00673.hp1 HG01891.hp2 HG02071.hp2 others(17): Show |
a0001a0006 | a0001c0002a0006c0014 | a0001c0002t0007a0001c0002t0013a0001c0002t0015others(5): Show | a0001c0002t0007g0045a0001c0002t0007g0343a0001c0002t0007g0349others(16): Show | 20 | 454 | 0.0441 | 2 | c.276 others(19): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(16): Show | a0001c0001t0002g0254a0001c0001t0004g0255a0001c0001t0004g0337others(52): Show | 81 | 454 | 0.1784 | 2 | c.276 others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6434356 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(119): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0012others(19): Show | a0001c0001t0002g0127a0001c0001t0004g0196a0001c0002t0012g0195others(84): Show | 122 | 454 | 0.2687 | 2 | c.97- others(15): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6438338 | C | CTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(202): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0018others(169): Show | 205 | 454 | 0.4515 | 2 | c.-32 others(13): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 3218 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6438509 | A | ATT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG01192.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0029a0001c0002t0012a0001c0002t0013others(5): Show | a0001c0001t0029g0270a0001c0002t0012g0136a0001c0002t0012g0178others(9): Show | 12 | 454 | 0.0264 | 2 | c.-34 others(13): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 3389 | chr17 | TogoVar | ||||||
AIP_chr11_67478026_67496103 | 67481205 | C | CTT | upstream_gene_variant | MODIFIER | HG01261.hp1 HG03225.hp2 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0003 | a0001c0001t0001g0002a0001c0001t0001g0059a0002c0005t0003g0058 | 4 | 342 | 0.0117 | 2 | c.-19 others(13): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 1820 | chr11 | TogoVar | ||||||
AIP_chr11_67478026_67496103 | 67494811 | C | CGA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(82): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(15): Show | 85 | 342 | 0.2485 | 2 | c.*38 others(13): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3709 | chr11 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299041 | A | ACC | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02056.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0011others(2): Show | a0001c0001t0001a0001c0014t0001a0002c0011t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(12): Show | 19 | 426 | 0.0446 | 2 | c.*13 others(13): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 394 | chr21 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299197 | T | TAC | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00733.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0038others(21): Show | 30 | 426 | 0.0704 | 2 | c.*14 others(13): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4662046 | T | TTG | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(67): Show | a0001c0001t0002g0306a0001c0001t0003g0304a0001c0001t0003g0318others(72): Show | 77 | 334 | 0.2305 | 2 | c.29+ others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4668213 | C | CAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(59): Show | a0001c0001t0002g0306a0001c0001t0003g0304a0001c0001t0003g0318others(63): Show | 68 | 334 | 0.2036 | 2 | 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 | 4674042 | C | CAA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00673.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(28): Show | a0001c0001t0003g0318a0001c0001t0005g0202a0001c0001t0005g0206others(29): Show | 32 | 334 | 0.0958 | 2 | 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 | 4679808 | G | GGT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(50): Show | a0001c0001t0002g0285a0001c0001t0008g0290a0001c0001t0010g0149others(53): Show | 56 | 334 | 0.1677 | 2 | 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 | 4679852 | T | TAG | intron_variant | MODIFIER | HG00673.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0056a0001c0001t0088a0001c0002t0024others(3): Show | a0001c0001t0056g0013a0001c0001t0088g0198a0001c0002t0024g0009others(3): Show | 6 | 334 | 0.0180 | 2 | 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 | 4704157 | G | GTT | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01928.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0004a0001c0002t0006a0001c0002t0012others(6): Show | a0001c0002t0004g0035a0001c0002t0006g0115a0001c0002t0012g0239others(7): Show | 11 | 334 | 0.0329 | 2 | c.30- others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4705395 | C | CTT | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01168.hp1 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(34): Show | a0001c0001t0002g0240a0001c0001t0010g0149a0001c0001t0013g0195others(35): Show | 38 | 334 | 0.1138 | 2 | c.30- others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4707973 | T | TTG | intron_variant | MODIFIER | HG02886.hp2 HG03139.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0030a0001c0002t0093others(2): Show | a0001c0002t0012g0239a0001c0002t0030g0086a0001c0002t0030g0165others(3): Show | 6 | 334 | 0.0180 | 2 | c.30- others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4707974 | G | GTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0127a0001c0002t0001a0001c0002t0003others(16): Show | a0001c0001t0127g0093a0001c0002t0001g0002a0001c0002t0001g0114others(19): Show | 24 | 334 | 0.0719 | 2 | c.30- others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4710169 | G | GAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(183): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(141): Show | a0001c0001t0001g0129a0001c0001t0002g0306a0001c0001t0003g0318others(179): Show | 186 | 334 | 0.5569 | 2 | c.30- others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4740785 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01099.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0005a0001c0001t0045a0001c0001t0151others(8): Show | a0001c0001t0005g0202a0001c0001t0045g0174a0001c0001t0151g0064others(8): Show | 11 | 334 | 0.0329 | 2 | c.829 others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4744625 | G | GCA | intron_variant | MODIFIER | HG01192.hp2 HG01928.hp2 HG02523.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004 | a0001c0001t0003a0001c0008t0202a0002c0004t0031others(1): Show | a0001c0001t0003g0318a0001c0008t0202g0271a0002c0004t0031g0283others(1): Show | 4 | 334 | 0.0120 | 2 | c.830 others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |