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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOXE3_chr17_8090900_8123514 | 8107994 | GGAAGGAA others(3): Show |
G | intron_variant | MODIFIER | HG02818.hp2 NA19076.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0149 a0001c0002t0003g0022 |
2 | 407 | 0.0049 | -10 | c.168 others(27): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPG_chr2_232401844_232415714 | 232405108 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19009.hp2 NA19060.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0004 | 2 | 240 | 0.0083 | -10 | c.-17 others(21): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 1735 | chr2 | TogoVar | |||||||
ALPI_chr2_232451153_232465753 | 232465431 | TTTTTATT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 |
6 | 180 | 0.0333 | -10 | c.*62 others(21): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4679 | chr2 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112346624 | GCCTACTC others(3): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0103 | 1 | 304 | 0.0033 | -10 | c.-10 others(31): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112440812 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG03490.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 a0001c0001t0003g0257 |
2 | 84 | 0.0238 | -10 | c.353 others(25): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58502134 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0093 | a0001c0093t0001 | a0001c0093t0001g0140 | 1 | 138 | 0.0072 | -10 | c.624 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58531935 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19066.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0088 | 1 | 27 | 0.0370 | -10 | c.535 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58557669 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02630.hp2 others(1): Show |
a0001a0013 | a0001c0092a0013c0025a0013c0036 | a0001c0092t0003a0013c0025t0014a0013c0036t0003 | a0001c0092t0003g0320 a0013c0025t0014g0109 a0013c0025t0014g0111 others(1): Show |
4 | 133 | 0.0301 | -10 | c.196 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58557709 | TTGTCATT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01069.hp2 others(33): Show |
a0001a0002a0007others(7): Show | a0001c0002a0001c0014a0001c0023others(16): Show | a0001c0002t0003a0001c0014t0001a0001c0014t0020others(26): Show | a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0014t0001g0249 others(33): Show |
36 | 318 | 0.1132 | -10 | c.196 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58630608 | CACACACA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0019 | a0003c0019t0022 | a0003c0019t0022g0233 | 1 | 318 | 0.0031 | -10 | c.-18 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1518 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84838628 | ATTATTAT others(3): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0022 | a0022c0029 | a0022c0029t0011 | a0022c0029t0011g0094 | 1 | 338 | 0.0030 | -10 | c.305 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84847208 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0146 a0001c0001t0012g0087 |
2 | 59 | 0.0339 | -10 | c.165 others(29): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21527015 | GTTCTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(188): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0002g0001 others(187): Show |
191 | 234 | 0.8162 | -10 | c.-10 others(31): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALYREF_chr17_81882835_81896586 | 81895050 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 282 | 0.0035 | -10 | c.-34 others(21): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 3465 | chr17 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(3): Show |
6 | 18 | 0.3333 | -10 | c.340 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46411390 | TGTCCCAG others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 154 | 0.0065 | -10 | c.311 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 15/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0092 others(1): Show |
4 | 61 | 0.0656 | -10 | c.297 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46427094 | CAAGGGCA others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 a0001c0002t0002g0120 a0001c0002t0002g0121 others(7): Show |
10 | 158 | 0.0633 | -10 | c.297 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46459739 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0004a0001c0005t0001 | a0001c0001t0001g0137 a0001c0003t0004g0008 a0001c0003t0004g0009 others(3): Show |
6 | 84 | 0.0714 | -10 | c.252 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46503060 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0129 a0001c0001t0001g0130 others(4): Show |
7 | 92 | 0.0761 | -10 | c.233 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 9/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46581797 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0087 |
2 | 69 | 0.0290 | -10 | c.-12 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585689 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0090 |
3 | 155 | 0.0194 | -10 | c.-12 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585691 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01515.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0081 others(3): Show |
6 | 151 | 0.0397 | -10 | c.-12 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585693 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02004.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0077 others(3): Show |
6 | 142 | 0.0423 | -10 | c.-12 others(29): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95946059 | CTCTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0005 | a0005c0013 | a0005c0013t0006 | a0005c0013t0006g0051 | 1 | 159 | 0.0063 | -10 | c.137 others(27): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95954573 | TAAATAAA others(3): Show |
T | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 | 1 | 327 | 0.0031 | -10 | c.245 others(25): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMELX_chrX_11288413_11305761 | 11304777 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 217 | 0.0092 | -10 | c.*41 others(21): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 4017 | chrX | TogoVar | |||||||
AMER1_chrX_64180117_64210708 | 64190549 | TGGACCAA others(3): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0008 | a0008c0009 | a0008c0009t0030 | a0008c0009t0030g0072 | 1 | 241 | 0.0041 | -10 | c.272 others(19): Show |
p.His others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 2974/8407 | 2728/3408 | 910/1135 | chrX | TogoVar | |||
AMFR_chr16_56356452_56430545 | 56361753 | TAAAAAAA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(184): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 others(184): Show |
187 | 248 | 0.7540 | -10 | c.*11 others(21): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 14/14 | 1146 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56397180 | TATACCCA others(3): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0276 | 1 | 354 | 0.0028 | -10 | c.108 others(29): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 8/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56404384 | CTGAAGGG others(3): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 354 | 0.0028 | -10 | c.840 others(25): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
AMHR2_chr12_53418855_53436672 | 53436181 | AAAAAGAA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01255.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(5): Show |
34 | 349 | 0.0974 | -10 | c.*47 others(21): Show |
AMHR2 | ENSG00000135409.11 | transcript | ENST00000257863.9 | protein_coding | 4510 | chr12 | TogoVar | |||||||
AMH_chr19_2244323_2257073 | 2253662 | AGGCGAGC others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 430 | 0.0023 | -10 | c.*17 others(21): Show |
AMH | ENSG00000104899.8 | transcript | ENST00000221496.5 | protein_coding | 1590 | chr19 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109510370 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 others(8): Show |
98 | 100 | 0.9800 | -10 | c.-10 others(21): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 644 | chr1 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109510740 | GTTAGCTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00741.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 others(1): Show |
28 | 398 | 0.0704 | -10 | c.-14 others(21): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1014 | chr1 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109511253 | AAAAAAGA others(3): Show |
A | upstream_gene_variant | MODIFIER | NA18941.hp2 NA19066.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 366 | 0.0082 | -10 | c.-19 others(21): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1527 | chr1 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127862865 | GATAAAAT others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0134 | 1 | 256 | 0.0039 | -10 | c.*22 others(21): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 8/8 | 2219 | chr2 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110239498 | AAAAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 153 | 0.0065 | -10 | c.585 others(29): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMMECR1_chrX_110189186_110323085 | 110248390 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 140 | 0.0071 | -10 | c.584 others(29): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31712899 | ACGCCTCG others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0005g0373 others(2): Show |
5 | 430 | 0.0116 | -10 | c.39- others(25): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31722130 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 others(41): Show |
50 | 108 | 0.4630 | -10 | c.38+ others(25): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112805370 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00738.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0108 a0001c0001t0002g0237 a0001c0001t0004g0021 others(38): Show |
45 | 54 | 0.8333 | -10 | c.163 others(27): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112808458 | AACCATAC others(3): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0204 | 1 | 268 | 0.0037 | -10 | c.163 others(29): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
AMOT_chrX_112769877_112845831 | 112824822 | ACTACCAA others(3): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004a0001c0007t0020 | a0001c0001t0004g0144 a0001c0007t0004g0022 a0001c0007t0020g0077 |
3 | 268 | 0.0112 | -10 | c.-63 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 3/13 | chrX | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10457938 | GATCTGGC others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0043 others(65): Show |
77 | 388 | 0.1985 | -10 | c.-6+ others(25): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10499089 | GCAAGGAC others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02630.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0011others(2): Show | a0001c0001t0007a0001c0003t0007a0001c0003t0021others(3): Show | a0001c0001t0007g0037 a0001c0001t0007g0348 a0001c0001t0007g0352 others(6): Show |
10 | 388 | 0.0258 | -10 | c.155 others(27): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38390961 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0003a0001c0005t0004a0002c0004t0005 | a0001c0001t0003g0159 a0001c0005t0004g0162 a0002c0004t0005g0106 others(1): Show |
4 | 23 | 0.1739 | -10 | c.187 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406718 | CTCTCTCC others(3): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 281 | 0.0036 | -10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38406728 | TTCCCTCT others(3): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG04228.hp1 |
a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0077 a0001c0009t0006g0234 |
2 | 145 | 0.0138 | -10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38407076 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02602.hp1 HG04184.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0098 a0001c0002t0002g0024 a0001c0002t0002g0251 |
3 | 235 | 0.0128 | -10 | c.139 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar |