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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8840978 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18969.hp2 NA19054.hp1 others(1): Show |
a0001a0002a0028 | a0001c0001a0002c0004a0028c0045 | a0001c0001t0003a0002c0004t0003a0028c0045t0003 | a0001c0001t0003g0141 a0001c0001t0003g0180 a0002c0004t0003g0094 others(1): Show |
4 | 267 | 0.0150 | 28 | c.108 others(45): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8841009 | A | AGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(22): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0060 a0001c0001t0001g0137 a0001c0001t0001g0173 others(21): Show |
25 | 132 | 0.1894 | 28 | c.108 others(45): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8841009 | A | AGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0056 | a0001c0056t0002 | a0001c0056t0002g0332 | 1 | 108 | 0.0093 | 28 | c.108 others(45): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03540.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0010 | a0001c0001t0002g0322 a0004c0005t0010g0280 |
2 | 13 | 0.1538 | 28 | c.-18 others(47): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01928.hp1 HG01943.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0105 a0001c0001t0002g0117 others(18): Show |
22 | 95 | 0.2316 | 28 | c.-18 others(49): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151731938 | G | GAGATAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01361.hp1 HG02071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0015 a0001c0001t0002g0136 a0001c0001t0003g0002 others(5): Show |
13 | 106 | 0.1226 | 28 | c.-20 others(39): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1988 | chr3 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12648388 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0039 | 1 | 283 | 0.0035 | 28 | c.169 others(45): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056457 | T | TATATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 271 | 0.0037 | 28 | c.*44 others(39): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3764 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG01496.hp1 HG04115.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0140 a0002c0002t0003g0214 |
2 | 272 | 0.0074 | 28 | c.535 others(45): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272889 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0029 |
2 | 95 | 0.0211 | 28 | c.480 others(43): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44299737 | C | CATGGTAT others(21): Show |
3_prime_UTR_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0071 | 1 | 394 | 0.0025 | 28 | c.*80 others(37): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 809 | chr6 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122118109 | A | ACACACAT others(21): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 382 | 0.0026 | 28 | c.687 others(43): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 6/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03471.hp2 NA18984.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0010 | a0001c0001t0003g0313 a0001c0003t0010g0063 a0001c0003t0010g0064 |
3 | 95 | 0.0316 | 28 | c.-16 others(45): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01106.hp2 HG01169.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0002g0082 others(14): Show |
17 | 118 | 0.1441 | 28 | c.-41 others(47): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03130.hp2 |
a0002 | a0002c0007 | a0002c0007t0003a0002c0007t0007 | a0002c0007t0003g0005 a0002c0007t0007g0336 |
2 | 73 | 0.0274 | 28 | c.70+ others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0323 | 1 | 72 | 0.0139 | 28 | c.70+ others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0351 | 1 | 274 | 0.0036 | 28 | c.71- others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02080.hp1 HG03654.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004a0002c0008 | a0002c0002t0002a0002c0004t0003a0002c0008t0003 | a0002c0002t0002g0137 a0002c0002t0002g0301 a0002c0004t0003g0025 others(2): Show |
5 | 103 | 0.0485 | 28 | c.71- others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01975.hp1 HG02004.hp1 others(20): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0004others(3): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0005others(4): Show | a0002c0002t0001g0006 a0002c0002t0001g0035 a0002c0002t0001g0039 others(20): Show |
23 | 179 | 0.1285 | 28 | c.336 others(47): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(21): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 157 | 0.0064 | 28 | c.336 others(47): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69162840 | T | TATACATA others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0002a0017 | a0002c0002a0017c0030 | a0002c0002t0001a0002c0002t0005a0017c0030t0001 | a0002c0002t0001g0027 a0002c0002t0001g0041 a0002c0002t0001g0079 others(8): Show |
11 | 283 | 0.0389 | 28 | c.336 others(47): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0214 a0005c0005t0004g0215 |
2 | 177 | 0.0113 | 28 | c.100 others(47): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02015.hp2 HG03098.hp1 HG04115.hp1 |
a0004a0009 | a0004c0004a0004c0006a0009c0010 | a0004c0004t0003a0004c0006t0011a0009c0010t0006 | a0004c0004t0003g0144 a0004c0006t0011g0327 a0009c0010t0006g0195 |
3 | 246 | 0.0122 | 28 | c.100 others(47): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(21): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01258.hp2 HG01346.hp2 others(10): Show |
a0001a0018 | a0001c0001a0001c0004a0018c0047 | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0001t0002g0025 a0001c0001t0002g0117 a0001c0001t0002g0130 others(10): Show |
13 | 37 | 0.3514 | 28 | c.382 others(45): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01517.hp1 HG06807.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0011a0001c0003t0001a0001c0004t0010others(3): Show | a0001c0002t0011g0165 a0001c0003t0001g0031 a0001c0004t0010g0198 others(3): Show |
6 | 30 | 0.2000 | 28 | c.382 others(45): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134620 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0013 | a0002c0013t0008 | a0002c0013t0008g0190 | 1 | 152 | 0.0066 | 28 | c.69+ others(43): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0005 | a0004c0005t0029 | a0004c0005t0029g0206 | 1 | 17 | 0.0588 | 28 | c.331 others(47): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69273447 | C | CTATTTAT others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01192.hp1 others(16): Show |
a0001a0002 | a0001c0004a0002c0001a0002c0016 | a0001c0004t0005a0002c0001t0004a0002c0001t0008others(1): Show | a0001c0004t0005g0323 a0001c0004t0005g0324 a0001c0004t0005g0325 others(15): Show |
19 | 36 | 0.5278 | 28 | c.276 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298229 | T | TAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 NA19057.hp1 |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0171 a0002c0001t0004g0189 a0002c0001t0004g0190 |
3 | 200 | 0.0150 | 28 | c.126 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298229 | T | TAGGTAGG others(21): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0108 | 1 | 198 | 0.0051 | 28 | c.126 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298316 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01192.hp1 others(6): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0001 | a0001c0004t0005a0001c0010t0010a0002c0001t0004others(1): Show | a0001c0004t0005g0017 a0001c0004t0005g0325 a0001c0004t0005g0329 others(6): Show |
9 | 76 | 0.1184 | 28 | c.126 others(45): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303791 | T | TATATACA others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02895.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 a0003c0003t0003g0027 |
2 | 299 | 0.0067 | 28 | c.930 others(43): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303793 | T | TATATACA others(21): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03453.hp1 NA19030.hp2 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0015 | a0003c0003t0003g0029 a0003c0003t0015g0152 a0003c0003t0015g0153 |
3 | 297 | 0.0101 | 28 | c.930 others(43): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303798 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0193 | 1 | 297 | 0.0034 | 28 | c.930 others(43): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303799 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02145.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 others(1): Show |
4 | 347 | 0.0115 | 28 | c.930 others(43): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303807 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG02155.hp1 others(15): Show |
a0001 | a0001c0002a0001c0024 | a0001c0002t0001a0001c0024t0001 | a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0067 others(15): Show |
18 | 249 | 0.0723 | 28 | c.930 others(43): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69086486 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18612.hp2 NA19063.hp2 NA19085.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 3 | 46 | 0.0652 | 28 | c.393 others(45): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 30/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03491.hp1 NA18950.hp2 others(3): Show |
a0001a0025 | a0001c0001a0001c0003a0025c0036 | a0001c0001t0001a0001c0003t0001a0025c0036t0001 | a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0256 others(3): Show |
6 | 93 | 0.0645 | 28 | c.314 others(45): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19240.hp1 |
a0001 | a0001c0005a0001c0023 | a0001c0005t0001a0001c0023t0001 | a0001c0005t0001g0149 a0001c0023t0001g0268 |
2 | 27 | 0.0741 | 28 | c.466 others(45): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 91 | 0.0110 | 28 | c.466 others(45): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0338 | 1 | 227 | 0.0044 | 28 | c.268 others(45): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43452412 | C | CTCTACTA others(21): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 340 | 0.0029 | 28 | c.*23 others(39): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 1986 | chr6 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0005a0001c0006t0002 | a0001c0005t0005g0116 a0001c0006t0002g0040 |
2 | 105 | 0.0190 | 28 | c.49- others(43): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124335 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0004 | a0001c0004t0028 | a0001c0004t0028g0188 | 1 | 147 | 0.0068 | 28 | c.359 others(45): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124335 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 NA19030.hp2 |
a0001a0004 | a0001c0004a0004c0025a0004c0031 | a0001c0004t0002a0004c0025t0006a0004c0031t0009 | a0001c0004t0002g0005 a0004c0025t0006g0001 a0004c0031t0009g0111 |
3 | 149 | 0.0201 | 28 | c.359 others(45): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0049 | 1 | 48 | 0.0208 | 28 | c.*22 others(39): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778433 | T | TATAGAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02895.hp1 |
a0003a0014 | a0003c0004a0014c0023 | a0003c0004t0001a0014c0023t0001 | a0003c0004t0001g0177 a0014c0023t0001g0217 |
2 | 222 | 0.0090 | 28 | c.-44 others(39): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4206 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778433 | T | TATATAGA others(21): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 221 | 0.0045 | 28 | c.-44 others(39): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4206 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778447 | G | GAGACAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG03139.hp1 others(2): Show |
a0001a0021 | a0001c0002a0021c0032 | a0001c0002t0003a0001c0002t0007a0021c0032t0001 | a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0007g0128 others(2): Show |
5 | 310 | 0.0161 | 28 | c.-43 others(39): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4192 | chr10 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99778447 | G | GAGACAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00741.hp2 others(19): Show |
a0001a0009a0011others(1): Show | a0001c0001a0009c0011a0011c0012others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(19): Show |
22 | 327 | 0.0673 | 28 | c.-43 others(39): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 4192 | chr10 | TogoVar |