regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | a0001c0009t0002g0082a0001c0009t0002g0083 | 2 | 332 | 0.0060 | -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 | a0001c0012t0005g0378 | 1 | 406 | 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 | a0001c0004t0004g0237 | 1 | 364 | 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 |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0004others(4): Show | a0001c0001t0001g0287a0001c0001t0002g0188a0001c0001t0002g0201others(5): Show | 8 | 364 | 0.0220 | -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 | a0002c0002t0050 | a0002c0002t0050g0074 | 1 | 428 | 0.0023 | -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 | a0001c0001t0035a0002c0002t0059 | a0001c0001t0035g0049a0002c0002t0059g0020 | 3 | 428 | 0.0070 | -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 | a0003c0005t0004g0356a0003c0005t0004g0357a0003c0005t0004g0358 | 3 | 380 | 0.0079 | -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 | a0001c0001t0120a0003c0021t0151 | a0001c0001t0120g0187a0003c0021t0151g0282 | 2 | 298 | 0.0067 | -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 | a0001c0001t0001g0355 | 1 | 382 | 0.0026 | -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 | a0001c0002t0002g0109a0001c0002t0002g0207 | 2 | 382 | 0.0052 | -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 | a0001c0001t0001g0125 | 1 | 298 | 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 | a0001c0001t0001g0015a0001c0001t0001g0033a0001c0001t0001g0062others(7): Show | 10 | 245 | 0.0408 | -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 | a0001c0003t0001g0035a0001c0003t0001g0252a0001c0003t0003g0220others(19): Show | 22 | 362 | 0.0608 | -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 |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0059a0001c0001t0001g0110a0001c0001t0001g0121others(36): Show | 39 | 362 | 0.1077 | -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 | a0002c0004t0031g0333 | 1 | 362 | 0.0028 | -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 | a0001c0003t0004g0123a0002c0002t0007g0009a0002c0002t0020g0242others(1): Show | 4 | 362 | 0.0111 | -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 | a0005c0005t0004g0240 | 1 | 348 | 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 | a0001c0003t0001g0122a0001c0003t0006g0048a0001c0006t0005g0152others(27): Show | 30 | 198 | 0.1515 | -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 | 178 | 0.0056 | -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 | a0055 | a0055c0049 | a0055c0049t0001 | a0055c0049t0001g0086 | 1 | 178 | 0.0056 | -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 | 178 | 0.0056 | -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 | a0005c0005a0005c0024a0006c0007others(31): Show | a0005c0005t0003a0005c0024t0001a0005c0024t0003others(35): Show | a0005c0005t0003g0090a0005c0005t0003g0102a0005c0005t0003g0103others(48): Show | 51 | 178 | 0.2865 | -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 | a0002c0015t0002g0315a0002c0015t0004g0004a0002c0015t0013g0305others(10): Show | 13 | 318 | 0.0409 | -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 | a0007c0003t0020g0179a0009c0027t0006g0267 | 2 | 318 | 0.0063 | -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 | a0002c0017t0026g0276a0002c0024t0008g0003a0002c0024t0008g0008others(3): Show | 6 | 318 | 0.0189 | -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 | 320 | 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 | a0001c0002t0001g0001a0001c0002t0001g0045a0001c0002t0001g0046others(43): Show | 47 | 252 | 0.1865 | -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 | 252 | 0.0040 | -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(26): Show |
a0002a0006a0012 | a0002c0001a0002c0016a0006c0009others(1): Show | a0002c0001t0004a0002c0001t0008a0002c0001t0022others(3): Show | a0002c0001t0004g0003a0002c0001t0004g0169a0002c0001t0004g0170others(25): Show | 29 | 350 | 0.0829 | -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 | a0001c0010t0010g0334 | 1 | 350 | 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 |
a0001a0018a0020others(1): Show | a0001c0001a0001c0005a0001c0011others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0011t0001others(5): Show | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0119others(15): Show | 18 | 274 | 0.0657 | -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 | a0001c0001t0001g0188a0001c0001t0001g0204a0002c0002t0002g0074others(8): Show | 11 | 312 | 0.0353 | -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 | a0003c0003t0001g0004a0003c0003t0001g0027a0003c0003t0001g0028others(11): Show | 16 | 312 | 0.0513 | -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 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0071 | 1 | 352 | 0.0028 | -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 |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(11): Show | a0001c0001t0001g0051a0001c0001t0001g0056a0001c0001t0001g0063others(52): Show | 55 | 352 | 0.1563 | -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 |
a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0092a0007c0011t0001g0093a0007c0011t0001g0094 | 3 | 352 | 0.0085 | -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 |
a0001a0002a0007others(8): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(25): Show | a0001c0001t0001g0051a0001c0001t0001g0256a0001c0001t0001g0257others(124): Show | 130 | 352 | 0.3693 | -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 | a0002c0003t0003g0001a0002c0003t0003g0005a0002c0003t0003g0014others(83): Show | 86 | 360 | 0.2389 | -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 | 232 | 0.0043 | -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 | a0004 | a0004c0038 | a0004c0038t0006 | a0004c0038t0006g0092 | 1 | 249 | 0.0040 | -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 | a0001c0001t0001g0049a0001c0001t0001g0206 | 2 | 342 | 0.0059 | -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 | a0001c0004t0001g0243 | 1 | 342 | 0.0029 | -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 | a0001c0001t0001g0196a0001c0001t0001g0323 | 2 | 342 | 0.0059 | -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 | a0001c0003t0003g0135 | 1 | 248 | 0.0040 | -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 | a0002c0061t0003g0055 | 1 | 248 | 0.0040 | -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 | a0015 | a0015c0062 | a0015c0062t0003 | a0015c0062t0003g0013 | 1 | 248 | 0.0040 | -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 | a0001c0049t0003g0067a0001c0068t0003g0007 | 2 | 248 | 0.0081 | -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 | a0001c0001t0001g0198 | 1 | 248 | 0.0040 | -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 | a0001c0002t0001g0174a0001c0002t0002g0165a0001c0025t0002g0075others(4): Show | 7 | 248 | 0.0282 | -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 |
a0001a0002a0010 | a0001c0003a0001c0010a0001c0022others(5): Show | a0001c0003t0001a0001c0010t0004a0001c0010t0024others(6): Show | a0001c0003t0001g0036a0001c0010t0004g0119a0001c0010t0024g0024others(8): Show | 11 | 248 | 0.0444 | -20 | c.321 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar |