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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58347688 | GCCCCAGG others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 2 | 289 | 0.0069 | -12 | c.119 others(27): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/7 | chr19 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8841013 | CGGAAGGA others(5): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA18954.hp1 NA18960.hp2 |
a0001 | a0001c0003a0001c0056 | a0001c0003t0001a0001c0003t0003a0001c0056t0002 | a0001c0003t0001g0268 a0001c0003t0003g0267 a0001c0056t0002g0332 |
3 | 28 | 0.1071 | -12 | c.108 others(29): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8870379 | TGCCTCAG others(5): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(13): Show |
a0003a0010a0015others(3): Show | a0003c0009a0003c0022a0003c0053others(6): Show | a0003c0009t0004a0003c0022t0004a0003c0053t0002others(6): Show | a0003c0009t0004g0156 a0003c0009t0004g0214 a0003c0009t0004g0236 others(13): Show |
16 | 366 | 0.0437 | -12 | c.422 others(31): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 33/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9065151 | TCCCCCCC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0040 | 1 | 38 | 0.0263 | -12 | c.*26 others(23): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 2556 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9075573 | ATAGTGTT others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 others(4): Show |
9 | 330 | 0.0273 | -12 | c.353 others(29): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9093891 | TCAAACAA others(5): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0015 | a0015c0020 | a0015c0020t0002 | a0015c0020t0002g0080 | 1 | 268 | 0.0037 | -12 | c.212 others(29): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9116882 | TGTATAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0010others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 others(119): Show |
145 | 330 | 0.4394 | -12 | c.-10 others(23): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 964 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 200 | 0.0050 | -12 | c.336 others(29): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33314056 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 218 | 0.0046 | -12 | c.24- others(27): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02809.hp2 NA21309.hp2 |
a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0262 a0002c0003t0017g0265 |
2 | 13 | 0.1538 | -12 | c.-18 others(31): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722157 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19072.hp1 NA19091.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0006 | a0001c0001t0002g0120 a0003c0004t0006g0223 |
2 | 63 | 0.0317 | -12 | c.-15 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53316764 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0046 |
8 | 109 | 0.0734 | -12 | c.252 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125062916 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 66 | 0.0152 | -12 | c.-26 others(23): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125068985 | ATGCAACA others(5): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 362 | 0.0028 | -12 | c.133 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG03139.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0015others(2): Show | a0001c0001t0001a0001c0004t0004a0001c0015t0001others(2): Show | a0001c0001t0001g0012 a0001c0004t0004g0211 a0001c0004t0004g0214 others(3): Show |
6 | 14 | 0.4286 | -12 | c.570 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 17 | 0.0588 | -12 | c.767 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01109.hp2 others(33): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0058 others(33): Show |
36 | 49 | 0.7347 | -12 | c.915 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117686 | TTCAGAAA others(5): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 362 | 0.0028 | -12 | c.997 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761192 | TATACATA others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01891.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0009 a0001c0001t0006g0032 others(4): Show |
14 | 425 | 0.0329 | -12 | c.*36 others(23): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3602 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12645261 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0003g0063 |
3 | 308 | 0.0097 | -12 | c.168 others(27): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658131 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0210 |
3 | 285 | 0.0105 | -12 | c.386 others(29): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170066764 | GTTGTCTA others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0184 |
3 | 376 | 0.0080 | -12 | c.963 others(27): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67196180 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp1 NA18971.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0003 | a0001c0001t0020g0043 a0002c0002t0003g0214 |
2 | 378 | 0.0053 | -12 | c.*66 others(23): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4486 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222238 | GCGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 368 | 0.0054 | -12 | c.535 others(29): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222240 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02818.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0237 a0001c0001t0001g0297 |
4 | 281 | 0.0142 | -12 | c.535 others(29): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69582373 | GCGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0021a0001c0001t0135a0001c0007t0014others(4): Show | a0001c0001t0021g0278 a0001c0001t0135g0269 a0001c0007t0014g0270 others(6): Show |
9 | 296 | 0.0304 | -12 | c.164 others(31): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69582385 | ACGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0012 | a0004c0012t0032 | a0004c0012t0032g0283 | 1 | 296 | 0.0034 | -12 | c.164 others(31): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640043 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 296 | 0.0034 | -12 | c.163 others(29): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77832949 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0206 | 1 | 305 | 0.0033 | -12 | c.-18 others(29): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 HG01261.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0139 a0001c0001t0001g0141 others(7): Show |
11 | 139 | 0.0791 | -12 | c.-18 others(29): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | CCTCTCTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 148 | 0.0068 | -12 | c.-37 others(23): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36237750 | GTATTATT others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 108 | 0.0185 | -12 | c.-49 others(29): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36242364 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(27): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0002t0011a0001c0007t0002 | a0001c0002t0002g0007 a0001c0002t0002g0032 a0001c0002t0002g0037 others(18): Show |
30 | 174 | 0.1724 | -12 | c.757 others(29): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258856 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0147 | 1 | 296 | 0.0034 | -12 | c.*31 others(23): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1924 | chr20 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70269322 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 NA18994.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0003a0002c0004t0001 | a0001c0002t0001g0174 a0001c0002t0003g0320 a0002c0004t0001g0340 |
3 | 40 | 0.0750 | -12 | c.962 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70271174 | CCAAAAAC others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 360 | 0.0028 | -12 | c.671 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272506 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18955.hp2 NA18970.hp1 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0085 others(1): Show |
4 | 120 | 0.0333 | -12 | c.480 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70275936 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0274 | 1 | 141 | 0.0071 | -12 | c.479 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 40 | 0.0250 | -12 | c.-15 others(23): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AASDHPPT_chr11_106072662_106103695 | 106098918 | CATGTCTC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -12 | c.*20 others(23): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 224 | chr11 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122117638 | CTATTTAT others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03130.hp2 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065 |
3 | 380 | 0.0079 | -12 | c.687 others(27): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 6/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122142351 | TAACAGTA others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 382 | 0.0052 | -12 | c.-16 others(29): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122142353 | ACAGTAGA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0032 a0001c0001t0001g0275 a0001c0001t0001g0276 others(2): Show |
6 | 382 | 0.0157 | -12 | c.-16 others(29): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36970534 | CTTTTTTC others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0148 a0001c0001t0001g0242 a0001c0001t0002g0001 others(26): Show |
30 | 243 | 0.1235 | -12 | c.833 others(31): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0108 a0001c0003t0004g0046 |
2 | 117 | 0.0171 | -12 | c.139 others(33): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 101 | 0.0099 | -12 | c.162 others(31): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141949 | TTCCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG02015.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0004t0002a0002c0002t0001others(3): Show | a0001c0001t0002g0230 a0001c0004t0002g0070 a0002c0002t0001g0168 others(4): Show |
7 | 366 | 0.0191 | -12 | c.56- others(27): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81148064 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(96): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0011others(21): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(24): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(86): Show |
99 | 148 | 0.6689 | -12 | c.56- others(29): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81154270 | TATACCCT others(5): Show |
T | intron_variant | MODIFIER | HG02735.hp1 HG03239.hp2 HG03491.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0009a0004c0005 | a0001c0001t0005a0003c0009t0005a0004c0005t0005 | a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 others(2): Show |
5 | 366 | 0.0137 | -12 | c.55+ others(29): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81156257 | CATGTTAC others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0022 | a0022c0074 | a0022c0074t0001 | a0022c0074t0001g0180 | 1 | 366 | 0.0027 | -12 | c.55+ others(27): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar |