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 | 58358149 | GTCCCC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(121): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(25): Show |
124 | 384 | 0.3229 | -5 | c.-47 others(16): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 4658 | chr19 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8866304 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(104): Show |
a0001a0002a0007others(12): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0046 others(101): Show |
107 | 109 | 0.9817 | -5 | c.371 others(24): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9074087 | TAAAAA | T | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02922.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0249 a0001c0001t0002g0005 a0001c0001t0002g0088 others(8): Show |
13 | 160 | 0.0813 | -5 | c.375 others(22): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show |
50 | 330 | 0.1515 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9108099 | GTTTAT | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(23): Show |
a0001a0012 | a0001c0001a0001c0011a0012c0027 | a0001c0001t0001a0001c0011t0001a0012c0027t0001 | a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0035 others(18): Show |
26 | 157 | 0.1656 | -5 | c.759 others(20): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTT | G | intron_variant | MODIFIER | HG02080.hp1 NA18956.hp2 NA19055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0041 others(3): Show |
6 | 205 | 0.0293 | -5 | c.336 others(22): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42721721 | CCCCCA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(71): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0007a0001c0001t0016a0001c0001t0020others(6): Show | a0001c0001t0007g0020 a0001c0001t0007g0030 a0001c0001t0007g0036 others(70): Show |
74 | 404 | 0.1832 | -5 | c.-11 others(16): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 852 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722157 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG01952.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0007a0001c0002t0003a0001c0009t0013others(1): Show | a0001c0001t0007g0051 a0001c0002t0003g0035 a0001c0002t0003g0050 others(12): Show |
15 | 76 | 0.1974 | -5 | c.-15 others(16): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53304861 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01255.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(10): Show |
16 | 32 | 0.5000 | -5 | c.*26 others(16): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2598 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53326128 | ATTTTG | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0131 a0001c0001t0001g0132 |
4 | 328 | 0.0122 | -5 | c.-46 others(16): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 4519 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125141706 | AAAAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01884.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 others(13): Show |
16 | 362 | 0.0442 | -5 | c.188 others(22): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12643448 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02572.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0004others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(13): Show |
16 | 248 | 0.0645 | -5 | c.-10 others(16): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 636 | chr1 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170072253 | AGATAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01255.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0020 others(24): Show |
54 | 376 | 0.1436 | -5 | c.654 others(20): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67214195 | CTCTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0020g0043 a0002c0002t0001g0148 a0002c0002t0003g0001 others(86): Show |
110 | 378 | 0.2910 | -5 | c.536 others(22): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69460340 | ATATAT | A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0069a0001c0001t0094a0002c0005t0018others(1): Show | a0001c0001t0069g0055 a0001c0001t0094g0160 a0002c0005t0018g0077 others(3): Show |
6 | 296 | 0.0203 | -5 | c.*15 others(18): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 15524 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69524412 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(113): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0082 others(206): Show |
209 | 287 | 0.7282 | -5 | c.105 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69607046 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(62): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(34): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(62): Show |
65 | 220 | 0.2955 | -5 | c.163 others(24): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77829201 | TTCACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(157): Show |
165 | 380 | 0.4342 | -5 | c.-19 others(22): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70279670 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 others(11): Show |
14 | 202 | 0.0693 | -5 | c.145 others(22): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293084 | AAAATT | A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(22): Show |
25 | 360 | 0.0694 | -5 | c.-36 others(16): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3579 | chr16 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42956660 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0023 a0001c0002t0001g0024 others(4): Show |
16 | 28 | 0.5714 | -5 | c.390 others(20): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967411 | ATATAT | A | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0072 |
3 | 317 | 0.0095 | -5 | c.-29 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2958 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967412 | TATATA | T | upstream_gene_variant | MODIFIER | HG02683.hp1 NA18951.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0059 others(1): Show |
5 | 321 | 0.0156 | -5 | c.-29 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2959 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967452 | TATATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(123): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(55): Show |
126 | 317 | 0.3975 | -5 | c.-30 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2999 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967463 | TGTATC | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(17): Show |
29 | 315 | 0.0921 | -5 | c.-30 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3010 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967489 | ATATTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(57): Show |
132 | 322 | 0.4099 | -5 | c.-30 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3036 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42969401 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(2): Show |
6 | 25 | 0.2400 | -5 | c.-49 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4948 | chr17 | TogoVar | |||||||
AASDHPPT_chr11_106072662_106103695 | 106083854 | ATTCTT | A | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 others(1): Show |
4 | 402 | 0.0100 | -5 | c.409 others(22): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106085475 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00738.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0070 others(5): Show |
24 | 402 | 0.0597 | -5 | c.410 others(22): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106098523 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0071 a0001c0001t0004g0072 others(9): Show |
33 | 391 | 0.0844 | -5 | c.*16 others(16): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 6/6 | 1624 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDHPPT_chr11_106072662_106103695 | 106099722 | TATAAC | T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 7 | 402 | 0.0174 | -5 | c.*28 others(16): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 1028 | chr11 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36947646 | TTCCCC | T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(12): Show |
15 | 244 | 0.0615 | -5 | c.-14 others(16): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1307 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCT | C | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0030 a0001c0003t0001g0034 a0001c0003t0001g0035 others(3): Show |
6 | 168 | 0.0357 | -5 | c.832 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001451 | GGAAGA | G | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0073 others(1): Show |
4 | 244 | 0.0164 | -5 | c.139 others(26): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81154078 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(90): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0060others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(19): Show | a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0059 others(86): Show |
93 | 366 | 0.2541 | -5 | c.55+ others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81154315 | CTTTCT | C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001a0006a0009others(1): Show | a0001c0004a0006c0042a0006c0056others(2): Show | a0001c0004t0002a0006c0042t0001a0006c0056t0001others(2): Show | a0001c0004t0002g0013 a0006c0042t0001g0335 a0006c0056t0001g0332 others(3): Show |
7 | 363 | 0.0193 | -5 | c.55+ others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8689506 | GAATTC | G | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0002a0002c0008t0003 | a0002c0008t0002g0012 a0002c0008t0002g0013 a0002c0008t0002g0014 others(1): Show |
4 | 360 | 0.0111 | -5 | c.-42 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8699796 | CCTCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0051 a0001c0003t0002g0170 a0002c0002t0001g0021 others(6): Show |
9 | 359 | 0.0251 | -5 | c.-42 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8716983 | ATATCT | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0001a0001c0001t0011a0002c0002t0003others(3): Show | a0001c0001t0001g0233 a0001c0001t0011g0232 a0002c0002t0003g0239 others(3): Show |
6 | 360 | 0.0167 | -5 | c.-41 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723827 | ATTTTT | A | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00741.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0060 a0001c0001t0001g0145 a0001c0001t0001g0148 others(36): Show |
39 | 158 | 0.2468 | -5 | c.-41 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8738008 | GAAAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00621.hp2 others(54): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(22): Show | a0001c0001t0002g0027 a0001c0001t0002g0291 a0001c0001t0002g0347 others(54): Show |
57 | 360 | 0.1583 | -5 | c.70+ others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8739762 | AAACAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(173): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0070 others(173): Show |
176 | 360 | 0.4889 | -5 | c.70+ others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743539 | TTATAA | T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02630.hp1 others(6): Show |
a0002 | a0002c0002a0002c0004a0002c0017others(1): Show | a0002c0002t0005a0002c0002t0006a0002c0002t0019others(5): Show | a0002c0002t0005g0236 a0002c0002t0006g0161 a0002c0002t0006g0237 others(6): Show |
9 | 360 | 0.0250 | -5 | c.71- others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743598 | TATATA | T | intron_variant | MODIFIER | HG02280.hp2 HG03540.hp2 NA19030.hp2 others(1): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0003a0002c0002t0010a0002c0009t0002 | a0002c0002t0003g0264 a0002c0002t0010g0303 a0002c0009t0002g0311 others(1): Show |
4 | 359 | 0.0111 | -5 | c.71- others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8787685 | GTTTTC | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0023others(7): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023others(10): Show | a0001c0001t0003g0032 a0001c0001t0003g0061 a0001c0001t0003g0092 others(71): Show |
74 | 360 | 0.2056 | -5 | c.*62 others(16): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3116 | chr16 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146689 | GATATA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(7): Show |
a0003a0020 | a0003c0003a0003c0025a0020c0019 | a0003c0003t0001a0003c0025t0001a0020c0019t0001 | a0003c0003t0001g0059 a0003c0003t0001g0074 a0003c0003t0001g0121 others(7): Show |
10 | 346 | 0.0289 | -5 | c.*21 others(16): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1317 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69167890 | TGTAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01361.hp2 others(5): Show |
a0006 | a0006c0007a0006c0016 | a0006c0007t0004a0006c0016t0004 | a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 others(5): Show |
8 | 346 | 0.0231 | -5 | c.316 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 25/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69208417 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(154): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0015a0003c0003others(10): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(150): Show |
157 | 257 | 0.6109 | -5 | c.100 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69209324 | GAATTC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(137): Show |
a0002a0003a0017others(5): Show | a0002c0002a0002c0015a0003c0003others(7): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(133): Show |
140 | 346 | 0.4046 | -5 | c.100 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69228474 | AATAAT | A | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG03041.hp2 |
a0006 | a0006c0007 | a0006c0007t0010 | a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 |
3 | 346 | 0.0087 | -5 | c.-31 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1/38 | chr17 | TogoVar |