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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9094340 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03540.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0082 a0001c0009t0002g0083 |
2 | 87 | 0.0230 | -20 | c.212 others(37): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42717754 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0377 | 1 | 404 | 0.0025 | -20 | c.-18 others(39): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125080338 | AAAACCCA others(13): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0183 | 1 | 362 | 0.0028 | -20 | c.358 others(37): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01243.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0004others(4): Show | a0001c0001t0001g0285 a0001c0001t0002g0188 a0001c0001t0002g0203 others(5): Show |
8 | 21 | 0.3810 | -20 | c.915 others(37): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761131 | TTATATAT others(13): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0103 | 1 | 405 | 0.0025 | -20 | c.*35 others(31): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3559 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | GATATATA others(13): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02486.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0042 a0002c0002t0001g0028 |
3 | 71 | 0.0423 | -20 | c.*36 others(31): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3629 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AAGAB_chr15_67195667_67259661 | 67242429 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 HG03471.hp1 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0311 a0003c0005t0004g0312 a0003c0005t0004g0313 |
3 | 130 | 0.0231 | -20 | c.74- others(35): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500688 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0021 | a0001c0001t0115a0003c0021t0146 | a0001c0001t0115g0184 a0003c0021t0146g0282 |
2 | 258 | 0.0078 | -20 | c.227 others(39): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 129 | 0.0078 | -20 | c.-18 others(37): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77850765 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 a0001c0002t0002g0205 |
2 | 380 | 0.0053 | -20 | c.132 others(37): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36234156 | ATATATAT others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 294 | 0.0034 | -20 | c.-23 others(31): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2321 | chr20 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001405 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02258.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0064 others(7): Show |
10 | 125 | 0.0800 | -20 | c.139 others(41): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8724731 | GAAAAAAA others(13): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02071.hp2 HG02135.hp1 others(19): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(2): Show | a0001c0003t0001a0001c0003t0003a0002c0002t0001others(8): Show | a0001c0003t0001g0028 a0001c0003t0001g0247 a0001c0003t0003g0213 others(19): Show |
22 | 275 | 0.0800 | -20 | c.-41 others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754662 | ATTTATTT others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp2 others(36): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0145 others(36): Show |
39 | 59 | 0.6610 | -20 | c.317 others(37): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754666 | ATTTATTT others(13): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0004 | a0002c0004t0031 | a0002c0004t0031g0328 | 1 | 348 | 0.0029 | -20 | c.317 others(37): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0004a0002c0002t0007a0002c0002t0020others(1): Show | a0001c0003t0004g0142 a0002c0002t0007g0010 a0002c0002t0020g0238 others(1): Show |
4 | 19 | 0.2105 | -20 | c.817 others(35): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69157007 | AGAAGATT others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0241 | 1 | 346 | 0.0029 | -20 | c.336 others(36): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215071196 | CAAATAAA others(13): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG01993.hp1 others(27): Show |
a0001a0003a0004others(5): Show | a0001c0003a0001c0006a0001c0010others(15): Show | a0001c0003t0001a0001c0003t0006a0001c0006t0005others(21): Show | a0001c0003t0001g0121 a0001c0003t0006g0048 a0001c0006t0005g0152 others(27): Show |
30 | 67 | 0.4478 | -20 | c.164 others(37): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48171961 | TGCACAGT others(13): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 176 | 0.0057 | -20 | c.69+ others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330737 | ACATCCAT others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0058 | a0058c0049 | a0058c0049t0001 | a0058c0049t0001g0086 | 1 | 75 | 0.0133 | -20 | c.100 others(41): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410977 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0007 | a0007c0011 | a0007c0011t0007 | a0007c0011t0007g0165 | 1 | 86 | 0.0116 | -20 | c.122 others(39): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48463772 | AGAACGGA others(13): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(48): Show |
a0005a0006a0007others(24): Show | a0005c0007a0005c0023a0006c0005others(31): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(35): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(48): Show |
51 | 176 | 0.2898 | -20 | c.128 others(41): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104799394 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02559.hp2 others(10): Show |
a0002a0004a0005others(1): Show | a0002c0015a0002c0017a0002c0059others(3): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(8): Show | a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0015t0013g0001 others(9): Show |
13 | 24 | 0.5417 | -20 | c.494 others(37): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862686 | GGCCGGGC others(13): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG03834.hp1 |
a0007a0009 | a0007c0003a0009c0027 | a0007c0003t0020a0009c0027t0006 | a0007c0003t0020g0234 a0009c0027t0006g0181 |
2 | 217 | 0.0092 | -20 | c.422 others(35): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104893421 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
a0002a0008 | a0002c0017a0002c0024a0002c0031others(2): Show | a0002c0017t0026a0002c0024t0008a0002c0031t0001others(2): Show | a0002c0017t0026g0190 a0002c0024t0008g0004 a0002c0024t0008g0009 others(3): Show |
6 | 118 | 0.0508 | -20 | c.67- others(35): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137022080 | TGTGGGGG others(13): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0055 | 1 | 318 | 0.0031 | -20 | c.568 others(33): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 6/48 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(44): Show |
a0001a0010 | a0001c0002a0001c0006a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(5): Show | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(43): Show |
47 | 62 | 0.7581 | -20 | c.111 others(37): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2343708 | CCTATCTA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0227 | 1 | 16 | 0.0625 | -20 | c.-36 others(31): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2981 | chr16 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69282634 | TGGTGGGC others(13): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(25): Show |
a0002a0006a0011 | a0002c0001a0002c0016a0006c0009others(1): Show | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(3): Show | a0002c0001t0004g0004 a0002c0001t0004g0167 a0002c0001t0004g0168 others(24): Show |
28 | 348 | 0.0805 | -20 | c.239 others(39): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298265 | AAGGAAGG others(13): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0333 | 1 | 348 | 0.0029 | -20 | c.126 others(37): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68944316 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02451.hp1 others(15): Show |
a0001a0022a0023others(1): Show | a0001c0001a0001c0005a0001c0011others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0011t0001others(5): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(15): Show |
18 | 167 | 0.1078 | -20 | c.-5- others(35): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 68971484 | AGTGTGTG others(13): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01952.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0005others(3): Show | a0001c0001t0001a0002c0002t0002a0004c0005t0003others(3): Show | a0001c0001t0001g0183 a0001c0001t0001g0199 a0002c0002t0002g0072 others(8): Show |
11 | 35 | 0.3143 | -20 | c.*44 others(31): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3003 | chr17 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69057507 | CTAGGCTT others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02602.hp1 HG02622.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004a0003c0003t0013 | a0003c0003t0001g0007 a0003c0003t0001g0030 a0003c0003t0001g0031 others(10): Show |
16 | 310 | 0.0516 | -20 | c.-14 others(37): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530818 | AAAGCAAG others(13): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 349 | 0.0029 | -20 | c.268 others(37): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530822 | CAAGAAAG others(13): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01358.hp2 HG01496.hp2 others(52): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(11): Show | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0063 others(52): Show |
55 | 301 | 0.1827 | -20 | c.268 others(37): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87530830 | CAAGAAAG others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03540.hp2 HG06807.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0092 a0006c0011t0001g0093 a0006c0011t0001g0094 |
3 | 315 | 0.0095 | -20 | c.268 others(37): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87548162 | GAGGGAAA others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(127): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(25): Show | a0001c0001t0001g0051 a0001c0001t0001g0256 a0001c0001t0001g0257 others(124): Show |
130 | 231 | 0.5628 | -20 | c.172 others(39): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20664694 | TCTCTTCT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp2 others(83): Show |
a0002a0005a0006others(16): Show | a0002c0003a0002c0012a0002c0014others(29): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(42): Show | a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0003g0016 others(83): Show |
86 | 358 | 0.2402 | -20 | c.170 others(39): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0221 | 1 | 22 | 0.0455 | -20 | c.334 others(37): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16053774 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0038 | a0003c0038t0006 | a0003c0038t0006g0092 | 1 | 33 | 0.0303 | -20 | c.147 others(37): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673974 | TTCTTTCT others(13): Show |
T | intron_variant | MODIFIER | HG00423.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0208 |
2 | 334 | 0.0060 | -20 | c.259 others(37): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673978 | TTCTCTCT others(13): Show |
T | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0244 | 1 | 273 | 0.0037 | -20 | c.259 others(37): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674034 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | NA18940.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0322 |
2 | 103 | 0.0194 | -20 | c.259 others(37): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95029167 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0138 | 1 | 244 | 0.0041 | -20 | c.387 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029197 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0061 | a0002c0061t0003 | a0002c0061t0003g0058 | 1 | 237 | 0.0042 | -20 | c.387 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029201 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0012 | a0012c0062 | a0012c0062t0003 | a0012c0062t0003g0013 | 1 | 223 | 0.0045 | -20 | c.387 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029207 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp1 |
a0001 | a0001c0049a0001c0068 | a0001c0049t0003a0001c0068t0003 | a0001c0049t0003g0067 a0001c0068t0003g0007 |
2 | 239 | 0.0084 | -20 | c.387 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029235 | GAGAGAGA others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 244 | 0.0041 | -20 | c.387 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95054021 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01975.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0025a0001c0044others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0025t0002others(4): Show | a0001c0002t0001g0193 a0001c0002t0002g0172 a0001c0025t0002g0075 others(4): Show |
7 | 25 | 0.2800 | -20 | c.336 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95064252 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
a0001a0002a0015 | a0001c0003a0001c0010a0001c0022others(5): Show | a0001c0003t0001a0001c0010t0004a0001c0010t0024others(6): Show | a0001c0003t0001g0034 a0001c0010t0004g0093 a0001c0010t0024g0023 others(8): Show |
11 | 111 | 0.0991 | -20 | c.321 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar |