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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADA2_chr22_17173790_17224435 | 17174209 | G | GA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(38): Show | a0001c0001t0005g0062 a0001c0001t0005g0101 a0001c0001t0005g0102 others(114): Show |
117 | 408 | 0.2868 | 1 | c.*72 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4580 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17174735 | G | GT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(38): Show | a0001c0001t0005g0062 a0001c0001t0005g0101 a0001c0001t0005g0102 others(114): Show |
117 | 408 | 0.2868 | 1 | c.*67 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4054 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17174835 | C | CA | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02630.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(5): Show | a0001c0001t0001g0195 a0001c0001t0004g0373 a0001c0001t0015g0030 others(9): Show |
12 | 408 | 0.0294 | 1 | c.*66 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3954 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17175308 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(69): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(23): Show | a0001c0001t0003g0172 a0001c0001t0003g0187 a0001c0001t0003g0287 others(69): Show |
72 | 408 | 0.1765 | 1 | c.*61 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3481 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17175884 | G | GT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(61): Show |
a0001a0002 | a0001c0005a0001c0008a0001c0010others(6): Show | a0001c0005t0002a0001c0005t0006a0001c0005t0014others(17): Show | a0001c0005t0002g0024 a0001c0005t0002g0028 a0001c0005t0002g0033 others(61): Show |
64 | 408 | 0.1569 | 1 | c.*55 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2905 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17177170 | C | CA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01891.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0015a0001c0003t0012others(10): Show | a0001c0001t0001g0055 a0001c0001t0001g0281 a0001c0001t0001g0283 others(20): Show |
23 | 408 | 0.0564 | 1 | c.*43 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1619 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17177709 | A | AG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(24): Show | a0001c0001t0001g0043 a0001c0001t0004g0338 a0001c0001t0010g0052 others(77): Show |
80 | 408 | 0.1961 | 1 | c.*37 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1080 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17178435 | C | CA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01496.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0001g0117 a0001c0001t0001g0267 a0001c0001t0004g0373 others(14): Show |
17 | 408 | 0.0417 | 1 | c.*30 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 354 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17178735 | C | CA | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01255.hp2 HG01358.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(10): Show | a0001c0001t0001g0112 a0001c0001t0001g0162 a0001c0001t0001g0192 others(20): Show |
23 | 408 | 0.0564 | 1 | c.*27 others(12): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 54 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17181324 | C | CT | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01928.hp2 others(35): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0005a0001c0001t0013a0001c0001t0016others(12): Show | a0001c0001t0005g0062 a0001c0001t0005g0101 a0001c0001t0005g0102 others(35): Show |
38 | 408 | 0.0931 | 1 | c.*15 others(10): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 10/10 | 158 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17181991 | T | TG | frameshift_variant | HIGH | NA18968.hp2 | a0008 | a0008c0015 | a0008c0015t0005 | a0008c0015t0005g0222 | 1 | 408 | 0.0025 | 1 | c.127 others(5): Show |
p.His others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 9/10 | 1396/4355 | 1270/1536 | 424/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17182010 | C | CG | frameshift_variant | HIGH | NA18968.hp2 | a0008 | a0008c0015 | a0008c0015t0005 | a0008c0015t0005g0222 | 1 | 408 | 0.0025 | 1 | c.125 others(10): Show |
p.Val others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 9/10 | 1377/4355 | 1251/1536 | 417/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17182657 | T | TC | frameshift_variant | HIGH | NA18968.hp2 | a0008 | a0008c0015 | a0008c0015t0005 | a0008c0015t0005g0222 | 1 | 408 | 0.0025 | 1 | c.118 others(5): Show |
p.Thr others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 8/10 | 1311/4355 | 1185/1536 | 395/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17183456 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(100): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(40): Show | a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0112 others(100): Show |
103 | 408 | 0.2525 | 1 | c.108 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17183955 | C | CT | intron_variant | MODIFIER | HG01993.hp2 HG02486.hp2 HG02896.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0012others(9): Show | a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0001g0281 others(15): Show |
18 | 408 | 0.0441 | 1 | c.108 others(10): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17184126 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01243.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0007a0001c0001t0008a0001c0003t0004others(15): Show | a0001c0001t0007g0152 a0001c0001t0008g0376 a0001c0003t0004g0339 others(25): Show |
28 | 408 | 0.0686 | 1 | c.108 others(10): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17187166 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(82): Show | a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0055 others(300): Show |
307 | 408 | 0.7525 | 1 | c.108 others(10): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17187665 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(23): Show | a0001c0001t0003g0172 a0001c0001t0003g0187 a0001c0001t0003g0287 others(61): Show |
64 | 408 | 0.1569 | 1 | c.108 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17187977 | G | GC | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01167.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0007a0001c0004t0007a0002c0002t0007others(13): Show | a0001c0001t0007g0152 a0001c0004t0007g0263 a0002c0002t0007g0049 others(25): Show |
28 | 408 | 0.0686 | 1 | c.108 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17189019 | C | CT | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG03704.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0011a0001c0005t0002a0001c0005t0039others(1): Show | a0001c0001t0011g0157 a0001c0001t0011g0292 a0001c0005t0002g0310 others(3): Show |
6 | 408 | 0.0147 | 1 | c.973 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17190594 | G | GC | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02896.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0010a0002c0006t0033others(1): Show | a0001c0001t0001g0043 a0002c0002t0010g0066 a0002c0006t0033g0247 others(1): Show |
4 | 408 | 0.0098 | 1 | c.882 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 5/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17191861 | A | AC | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01928.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(15): Show | a0001c0001t0001g0081 a0001c0001t0001g0162 a0001c0001t0004g0381 others(21): Show |
24 | 408 | 0.0588 | 1 | c.754 others(7): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17192829 | G | GA | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp1 others(9): Show |
a0002 | a0002c0002a0002c0006a0002c0009 | a0002c0002t0001a0002c0002t0003a0002c0006t0003others(2): Show | a0002c0002t0001g0031 a0002c0002t0001g0252 a0002c0002t0003g0039 others(9): Show |
12 | 408 | 0.0294 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17193358 | C | CA | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00735.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0001g0043 a0001c0001t0001g0155 a0001c0001t0001g0171 others(25): Show |
28 | 408 | 0.0686 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17193678 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(258): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(82): Show | a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 others(255): Show |
261 | 408 | 0.6397 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17194019 | G | GA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(161): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0171 others(160): Show |
164 | 408 | 0.4020 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17195528 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(288): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(84): Show | a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0055 others(285): Show |
291 | 408 | 0.7132 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17195761 | C | CT | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01257.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0035others(6): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(13): Show |
16 | 408 | 0.0392 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17196323 | C | CA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(147): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(51): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0094 others(146): Show |
150 | 408 | 0.3677 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17197269 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00609.hp1 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0117 others(65): Show |
68 | 408 | 0.1667 | 1 | c.754 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17198038 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp1 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0043 a0001c0001t0001g0112 a0001c0001t0001g0117 others(91): Show |
94 | 408 | 0.2304 | 1 | c.753 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17200882 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp1 others(110): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(35): Show | a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0285 others(110): Show |
113 | 408 | 0.2770 | 1 | c.753 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17201202 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01070.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0153 others(30): Show |
33 | 408 | 0.0809 | 1 | c.753 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17201967 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG02818.hp2 HG03831.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0013a0001c0001t0015others(3): Show | a0001c0001t0004g0373 a0001c0001t0013g0170 a0001c0001t0015g0030 others(4): Show |
7 | 408 | 0.0172 | 1 | c.753 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17204608 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG01258.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0009a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0009g0277 a0001c0001t0009g0279 a0002c0002t0001g0280 others(3): Show |
6 | 408 | 0.0147 | 1 | c.543 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17204794 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(160): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(60): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(159): Show |
163 | 408 | 0.3995 | 1 | c.543 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17209378 | A | AT | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | 1 | c.299 others(4): Show |
p.Asn others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 425/4355 | 299/1536 | 100/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209533 | G | GC | frameshift_variant | HIGH | HG02055.hp1 HG02145.hp2 NA19087.hp1 |
a0003 | a0003c0022a0003c0023a0003c0024 | a0003c0022t0011a0003c0023t0009a0003c0024t0028 | a0003c0022t0011g0284 a0003c0023t0009g0027 a0003c0024t0028g0036 |
3 | 408 | 0.0074 | 1 | c.144 others(4): Show |
p.Arg others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 270/4355 | 144/1536 | 48/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209544 | C | CG | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | 1 | c.133 others(4): Show |
p.Arg others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 259/4355 | 133/1536 | 45/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209571 | T | TG | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | 1 | c.106 others(4): Show |
p.His others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 232/4355 | 106/1536 | 36/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209577 | C | CA | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | 1 | c.100 others(8): Show |
p.Arg others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 226/4355 | 100/1536 | 34/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209643 | A | AG | frameshift_variant | HIGH | NA19072.hp2 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0005 | 1 | 408 | 0.0025 | 1 | c.34d others(3): Show |
p.Leu others(4): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/10 | 160/4355 | 34/1536 | 12/511 | chr22 | TogoVar | |||
ADA2_chr22_17173790_17224435 | 17209889 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 others(67): Show |
71 | 408 | 0.1740 | 1 | c.-46 others(8): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17212781 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG02055.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0075 a0001c0001t0001g0153 a0001c0001t0001g0161 others(25): Show |
28 | 408 | 0.0686 | 1 | c.-46 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17214039 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0043 a0001c0001t0001g0084 a0001c0001t0001g0158 others(102): Show |
107 | 408 | 0.2623 | 1 | c.-46 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17215605 | C | CA | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(19): Show | a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0281 others(40): Show |
43 | 408 | 0.1054 | 1 | c.-47 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17216377 | G | GA | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG02559.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0015a0001c0003t0003a0001c0003t0032others(8): Show | a0001c0001t0015g0307 a0001c0003t0003g0308 a0001c0003t0032g0303 others(10): Show |
13 | 408 | 0.0319 | 1 | c.-47 others(9): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17216769 | A | AC | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp2 NA19087.hp2 others(1): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0003t0003a0001c0004t0001a0001c0008t0006others(1): Show | a0001c0003t0003g0035 a0001c0004t0001g0201 a0001c0008t0006g0327 others(1): Show |
4 | 408 | 0.0098 | 1 | c.-47 others(18): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17216771 | A | AC | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0004t0049a0001c0005t0002others(3): Show | a0001c0001t0001g0043 a0001c0004t0049g0375 a0001c0005t0002g0046 others(8): Show |
11 | 408 | 0.0270 | 1 | c.-47 others(18): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17219665 | G | GT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(99): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(45): Show | a0001c0001t0001g0055 a0001c0001t0001g0175 a0001c0001t0001g0182 others(98): Show |
102 | 408 | 0.2500 | 1 | c.-35 others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 231 | chr22 | TogoVar |