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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1CF_chr10_50794409_50890627 | 50865296 | T | TTAC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012 a0001c0001t0002g0062 a0001c0001t0003g0013 others(17): Show |
27 | 314 | 0.0860 | 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 |
a0001a0003a0005others(9): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0001g0131 others(84): Show |
87 | 163 | 0.5337 | 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 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0151 a0001c0001t0001g0271 a0001c0001t0001g0279 others(9): Show |
12 | 58 | 0.2069 | 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 | a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 others(6): Show |
9 | 48 | 0.1875 | 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 | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(31): Show |
39 | 232 | 0.1681 | 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 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0167 a0001c0001t0001g0170 a0009c0011t0001g0169 |
3 | 416 | 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 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0032 others(24): Show |
39 | 91 | 0.4286 | 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 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 others(1): Show |
4 | 416 | 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(88): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(3): Show | a0002c0003t0001g0005 a0002c0003t0001g0010 a0002c0003t0001g0011 others(83): Show |
91 | 323 | 0.2817 | 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 | a0001c0001t0004g0237 a0001c0001t0004g0291 a0001c0002t0009g0124 others(8): Show |
11 | 128 | 0.0859 | 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 | a0001c0001t0002g0322 a0001c0002t0003g0017 a0001c0002t0003g0038 others(3): Show |
6 | 214 | 0.0280 | 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(102): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(98): Show |
105 | 214 | 0.4907 | 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 | a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 others(19): Show |
22 | 145 | 0.1517 | 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 | a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0004g0237 others(10): Show |
13 | 76 | 0.1711 | 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(15): Show | a0001c0001t0002g0191 a0001c0001t0002g0235 a0001c0001t0002g0242 others(95): Show |
99 | 394 | 0.2513 | 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 |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0341 a0001c0001t0001g0343 others(10): Show |
13 | 90 | 0.1444 | 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 |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0014others(1): Show | a0001c0001t0005a0002c0002t0001a0004c0014t0001others(1): Show | a0001c0001t0005g0104 a0002c0002t0001g0006 a0002c0002t0001g0262 others(2): Show |
6 | 201 | 0.0299 | 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 | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0005g0048 others(1): Show |
4 | 199 | 0.0201 | 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 | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0054 others(43): Show |
48 | 64 | 0.7500 | 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 | a0001c0002t0009g0017 a0001c0002t0009g0033 a0001c0002t0009g0073 others(3): Show |
17 | 430 | 0.0395 | 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 | a0001c0001t0001g0259 a0001c0001t0002g0051 a0001c0001t0002g0052 others(3): Show |
6 | 260 | 0.0231 | 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 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(13): Show |
16 | 267 | 0.0599 | 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 | a0001c0001t0001g0070 a0001c0001t0001g0139 a0001c0001t0002g0051 others(4): Show |
7 | 233 | 0.0300 | 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 | a0001c0001t0001g0070 a0001c0001t0002g0055 a0001c0001t0002g0061 others(2): Show |
5 | 306 | 0.0163 | 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(65): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0015 others(21): Show |
68 | 203 | 0.3350 | 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 | a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0003g0069 |
3 | 334 | 0.0090 | 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 | a0001c0002t0001g0011 a0001c0002t0001g0142 a0001c0002t0001g0143 |
3 | 163 | 0.0184 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0189 others(3): Show |
11 | 376 | 0.0293 | 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 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0002a0002c0002t0002a0004c0007t0002 | a0001c0001t0002g0016 a0002c0002t0002g0109 a0004c0007t0002g0107 |
3 | 375 | 0.0080 | 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 | a0002c0002t0003g0135 a0002c0002t0003g0139 a0002c0002t0003g0145 others(5): Show |
8 | 246 | 0.0325 | 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 | a0001c0001t0005a0001c0001t0010a0001c0001t0138others(5): Show | a0001c0001t0005g0258 a0001c0001t0010g0253 a0001c0001t0138g0212 others(5): Show |
8 | 167 | 0.0479 | 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 | a0001c0001t0005a0001c0001t0010a0001c0001t0069others(23): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(56): Show |
59 | 266 | 0.2218 | 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 |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0011a0001c0004t0009a0001c0004t0068others(15): Show | a0001c0001t0011g0151 a0001c0004t0009g0156 a0001c0004t0068g0094 others(19): Show |
22 | 93 | 0.2366 | 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 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(16): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(42): Show |
45 | 247 | 0.1822 | 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 | a0001c0001t0115a0001c0001t0133a0001c0004t0063others(4): Show | a0001c0001t0115g0184 a0001c0001t0133g0201 a0001c0004t0063g0069 others(4): Show |
7 | 150 | 0.0467 | 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 | a0001c0006t0028a0001c0009t0014a0001c0009t0120others(5): Show | a0001c0006t0028g0123 a0001c0006t0028g0132 a0001c0009t0014g0190 others(6): Show |
9 | 68 | 0.1324 | 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(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(122): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0023 others(216): Show |
219 | 296 | 0.7399 | 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 | a0001c0001t0002a0001c0001t0012a0001c0001t0041others(8): Show | a0001c0001t0002g0078 a0001c0001t0012g0073 a0001c0001t0012g0079 others(11): Show |
14 | 206 | 0.0680 | 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(1): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(50): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(83): Show |
86 | 293 | 0.2935 | 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 |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(33): Show | a0001c0001t0002g0078 a0001c0001t0005g0197 a0001c0001t0005g0213 others(60): Show |
63 | 249 | 0.2530 | 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 | a0001c0001t0111a0001c0001t0112a0001c0001t0113others(9): Show | a0001c0001t0111g0186 a0001c0001t0112g0189 a0001c0001t0113g0185 others(9): Show |
12 | 78 | 0.1538 | 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 | a0001c0001t0005a0001c0001t0010a0001c0001t0020others(21): Show | a0001c0001t0005g0213 a0001c0001t0010g0195 a0001c0001t0010g0205 others(46): Show |
49 | 77 | 0.6364 | 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 | a0001c0001t0001g0102 a0001c0002t0001g0015 a0001c0002t0001g0016 others(10): Show |
13 | 156 | 0.0833 | 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 | a0001c0002t0002g0010 a0001c0002t0002g0217 a0001c0002t0002g0222 others(31): Show |
35 | 126 | 0.2778 | 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 | a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0025 others(64): Show |
70 | 355 | 0.1972 | 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 | a0001c0001t0001g0152 a0001c0002t0001g0023 a0001c0002t0001g0026 others(30): Show |
34 | 230 | 0.1478 | 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 | a0001c0002t0002g0216 a0001c0002t0002g0224 a0001c0002t0002g0226 others(3): Show |
6 | 353 | 0.0170 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 others(15): Show |
26 | 132 | 0.1970 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(11): Show |
18 | 162 | 0.1111 | 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 |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(20): Show |
23 | 181 | 0.1271 | 3 | c.167 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | chr16 | TogoVar |