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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1CF_chr10_50794409_50890627 | 50865296 | T | TTAC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0011a0001c0001t0002g0056a0001c0001t0003g0012others(17): Show | 27 | 338 | 0.0799 | 3 | c.-93 others(20): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8821908 | A | ATTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0002a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0040a0001c0001t0001g0131a0001c0001t0001g0134others(84): Show | 87 | 368 | 0.2364 | 3 | c.-74 others(12): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 712 | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8856898 | C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0154a0001c0001t0001g0272a0001c0001t0001g0280others(9): Show | 12 | 368 | 0.0326 | 3 | c.284 others(20): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2M_chr12_9062708_9120919 | 9095742 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02145.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(1): Show | a0001c0001t0002g0050a0001c0001t0002g0053a0001c0001t0002g0054others(6): Show | 9 | 332 | 0.0271 | 3 | c.185 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33303944 | C | CAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01109.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0000a0002c0002t0000a0003c0003t0000others(2): Show | a0001c0001t0000g0001a0001c0001t0000g0005a0001c0001t0000g0006others(32): Show | 39 | 418 | 0.0933 | 3 | c.*28 others(14): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 2821 | chr1 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33307857 | C | CTAG | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 NA19043.hp1 |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0000a0010c0011t0000 | a0001c0001t0000g0155a0001c0001t0000g0204a0010c0011t0000g0203 | 3 | 418 | 0.0072 | 3 | c.336 others(18): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33313175 | G | GTTT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0000a0002c0002t0000a0003c0003t0000 | a0001c0001t0000g0014a0001c0001t0000g0024a0001c0001t0000g0045others(31): Show | 39 | 418 | 0.0933 | 3 | c.24- others(16): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33323215 | A | AAAG | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02922.hp2 NA19030.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0000a0010c0011t0000 | a0001c0001t0000g0155a0001c0001t0000g0202a0001c0001t0000g0204others(1): Show | 4 | 418 | 0.0096 | 3 | c.-21 others(14): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 2118 | chr1 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42690828 | C | CTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(3): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(84): Show | 92 | 406 | 0.2266 | 3 | c.*20 others(14): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1292 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42696121 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00738.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0002t0009a0001c0002t0014others(2): Show | a0001c0001t0004g0235a0001c0001t0004g0292a0001c0002t0009g0117others(8): Show | 11 | 406 | 0.0271 | 3 | c.-18 others(20): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703259 | G | GTTT | intron_variant | MODIFIER | HG00741.hp1 HG02080.hp2 HG02083.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0001t0002g0323a0001c0002t0003g0015a0001c0002t0003g0035others(3): Show | 6 | 406 | 0.0148 | 3 | c.-18 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42706354 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(8): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(101): Show | 106 | 406 | 0.2611 | 3 | c.-18 others(24): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01109.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(4): Show | a0001c0001t0002g0190a0001c0001t0002g0191a0001c0001t0002g0192others(19): Show | 22 | 406 | 0.0542 | 3 | c.-18 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(4): Show | a0001c0001t0002g0236a0001c0001t0002g0247a0001c0001t0004g0235others(10): Show | 13 | 406 | 0.0320 | 3 | c.-16 others(14): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42724546 | T | TTTA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(96): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0002g0188a0001c0001t0002g0236a0001c0001t0002g0237others(95): Show | 99 | 406 | 0.2438 | 3 | c.-39 others(14): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3677 | chr22 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066450 | A | ATTT | intron_variant | MODIFIER | HG02055.hp2 HG02135.hp1 HG02572.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0343a0001c0001t0001g0345others(10): Show | 13 | 364 | 0.0357 | 3 | c.133 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTAA | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02809.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0014others(1): Show | a0001c0001t0005a0002c0002t0001a0005c0014t0001others(1): Show | a0001c0001t0005g0104a0002c0002t0001g0004a0002c0002t0001g0264others(2): Show | 6 | 364 | 0.0165 | 3 | c.571 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTTA | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03486.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0005g0048others(1): Show | 4 | 364 | 0.0110 | 3 | c.571 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0049others(43): Show | 48 | 364 | 0.1319 | 3 | c.767 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12718908 | C | CCCT | intron_variant | MODIFIER | HG00597.hp2 HG04184.hp1 NA18947.hp1 others(14): Show |
a0001a0006 | a0001c0002a0001c0012a0006c0008 | a0001c0002t0009a0001c0012t0008a0006c0008t0008 | a0001c0002t0009g0017a0001c0002t0009g0033a0001c0002t0009g0073others(3): Show | 17 | 432 | 0.0394 | 3 | c.169 others(18): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12641692 | G | GTTT | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03041.hp1 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0259a0001c0001t0002g0041a0001c0001t0002g0042others(3): Show | 6 | 310 | 0.0194 | 3 | c.-28 others(14): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2392 | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12651828 | A | ATTT | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(13): Show | 16 | 310 | 0.0516 | 3 | c.385 others(18): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12657140 | C | CAAA | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0070a0001c0001t0001g0140a0001c0001t0002g0041others(4): Show | 7 | 310 | 0.0226 | 3 | c.386 others(20): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658111 | C | CTTT | intron_variant | MODIFIER | HG02717.hp2 HG03209.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0070a0001c0001t0002g0059a0001c0001t0002g0061others(2): Show | 5 | 310 | 0.0161 | 3 | c.386 others(20): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151820516 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006a0001c0001t0002g0009a0001c0001t0002g0015others(22): Show | 69 | 440 | 0.1568 | 3 | c.431 others(16): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADAT_chr4_170055222_170094956 | 170056433 | A | ATAT | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03453.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0051a0001c0001t0001g0076a0001c0001t0003g0070 | 3 | 378 | 0.0079 | 3 | c.*44 others(14): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3788 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | ATAT | downstream_gene_variant | MODIFIER | NA18981.hp2 NA18985.hp2 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0143a0001c0002t0001g0144 | 3 | 378 | 0.0079 | 3 | c.*44 others(14): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170064704 | A | ACCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0194others(3): Show | 11 | 378 | 0.0291 | 3 | c.113 others(18): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222283 | C | CACA | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01070.hp1 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0002c0002t0002a0005c0007t0002 | a0001c0001t0002g0051a0002c0002t0002g0101a0005c0007t0002g0098 | 3 | 380 | 0.0079 | 3 | c.535 others(20): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67234086 | C | CAAA | intron_variant | MODIFIER | HG01981.hp2 HG02148.hp2 HG02486.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0133a0002c0002t0003g0137a0002c0002t0003g0148others(5): Show | 8 | 380 | 0.0211 | 3 | c.451 others(20): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69456268 | C | CTTT | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02970.hp1 HG03098.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0143others(5): Show | a0001c0001t0004g0258a0001c0001t0011g0201a0001c0001t0143g0198others(5): Show | 8 | 298 | 0.0269 | 3 | c.*19 others(16): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 1728 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69464194 | A | AAAC | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0073others(23): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(56): Show | 59 | 298 | 0.1980 | 3 | c.*11 others(16): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 11674 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69492518 | C | CTTT | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01361.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0013a0001c0004t0010a0001c0004t0072others(15): Show | a0001c0001t0013g0151a0001c0004t0010g0156a0001c0004t0072g0093others(19): Show | 22 | 298 | 0.0738 | 3 | c.236 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69496273 | G | GTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(16): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(42): Show | 45 | 298 | 0.1510 | 3 | c.227 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69497295 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG02559.hp2 HG02572.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0120a0001c0001t0138a0001c0004t0067others(4): Show | a0001c0001t0120g0187a0001c0001t0138g0209a0001c0004t0067g0077others(4): Show | 7 | 298 | 0.0235 | 3 | c.227 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69553437 | G | GTTT | intron_variant | MODIFIER | HG01433.hp1 HG02280.hp2 HG02559.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0009a0001c0011others(3): Show | a0001c0006t0028a0001c0009t0035a0001c0009t0125others(5): Show | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0009t0035g0190others(6): Show | 9 | 298 | 0.0302 | 3 | c.282 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69556663 | G | GCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(127): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(217): Show | 220 | 298 | 0.7383 | 3 | c.282 others(18): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69596221 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG02109.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0007a0001c0001t0014a0001c0001t0045others(8): Show | a0001c0001t0007g0065a0001c0001t0014g0060a0001c0001t0014g0066others(11): Show | 14 | 298 | 0.0470 | 3 | c.164 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69603740 | A | AATC | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(51): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(83): Show | 86 | 298 | 0.2886 | 3 | c.163 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69626663 | C | CTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(60): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(33): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(60): Show | 63 | 298 | 0.2114 | 3 | c.163 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69643085 | A | ATTT | 5_prime_UTR_variant | MODIFIER | HG01361.hp2 HG02280.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0116a0001c0001t0117a0001c0001t0118others(9): Show | a0001c0001t0116g0185a0001c0001t0117g0189a0001c0001t0118g0184others(9): Show | 12 | 298 | 0.0403 | 3 | c.-48 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | 46 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00738.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0020others(21): Show | a0001c0001t0004g0216a0001c0001t0011g0192a0001c0001t0011g0194others(46): Show | 49 | 298 | 0.1644 | 3 | c.-82 others(12): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77822414 | C | CAAA | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0099a0001c0002t0001g0010a0001c0002t0001g0011others(10): Show | 13 | 382 | 0.0340 | 3 | c.-19 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77830987 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00733.hp2 others(32): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007a0001c0002t0002g0219a0001c0002t0002g0224others(31): Show | 35 | 382 | 0.0916 | 3 | c.-19 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77838615 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(67): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0014a0001c0002t0001g0019a0001c0002t0001g0020others(65): Show | 70 | 382 | 0.1833 | 3 | c.-18 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77858302 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01496.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0151a0001c0002t0001g0019a0001c0002t0001g0021others(30): Show | 34 | 382 | 0.0890 | 3 | c.133 others(22): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77869306 | C | CTTT | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218a0001c0002t0002g0226a0001c0002t0002g0228others(3): Show | 6 | 382 | 0.0157 | 3 | c.133 others(18): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36237750 | G | GTAT | intron_variant | MODIFIER | HG01175.hp2 HG01257.hp2 HG02280.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0040others(18): Show | 26 | 298 | 0.0873 | 3 | c.-49 others(20): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36242364 | T | TTTG | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01515.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0034others(11): Show | 18 | 298 | 0.0604 | 3 | c.757 others(20): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AARS1_chr16_70247298_70294506 | 70261671 | A | ATTT | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(20): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(20): Show | 23 | 362 | 0.0635 | 3 | c.167 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | chr16 | TogoVar |