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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGPAT4_chr6_161124967_161279061 | 161127921 | AAAAGT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00735.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0245 a0001c0001t0002g0222 a0001c0001t0006g0230 others(27): Show |
30 | 262 | 0.1145 | -5 | c.*86 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2045 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161235780 | CATTAT | C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015a0001c0001t0037others(1): Show | a0001c0001t0008g0210 a0001c0001t0015g0211 a0001c0001t0015g0212 others(2): Show |
5 | 262 | 0.0191 | -5 | c.-89 others(22): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177502407 | ATTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0204 others(61): Show |
64 | 75 | 0.8533 | -5 | c.147 others(24): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16794241 | TTTAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(300): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0021 others(138): Show |
303 | 458 | 0.6616 | -5 | c.478 others(20): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16855409 | CAGAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0173 others(87): Show |
122 | 456 | 0.2675 | -5 | c.*41 others(16): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4002 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16880521 | TCTCCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 others(46): Show |
62 | 438 | 0.1416 | -5 | c.-28 others(22): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16880552 | CTCCTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0001g0145 a0001c0001t0002g0144 |
4 | 456 | 0.0088 | -5 | c.-28 others(22): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1057462 | TTTAAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01243.hp2 others(19): Show |
a0001a0002a0010others(2): Show | a0001c0006a0001c0011a0001c0012others(11): Show | a0001c0006t0001a0001c0011t0006a0001c0011t0008others(14): Show | a0001c0006t0001g0010 a0001c0011t0006g0014 a0001c0011t0008g0052 others(18): Show |
22 | 53 | 0.4151 | -5 | c.*24 others(16): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 1347 | chr1 | TogoVar | |||||||
AGTR1_chr3_148692903_148748003 | 148720715 | CACGTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(117): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0069 others(94): Show |
120 | 348 | 0.3448 | -5 | c.-48 others(24): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11736111 | CGGGCG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(411): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(152): Show |
414 | 418 | 0.9904 | -5 | c.-97 others(12): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 24 | chr1 | TogoVar | |||||||
AGTRAP_chr1_11731136_11755769 | 11753267 | CGTTTT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01257.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(8): Show |
27 | 416 | 0.0649 | -5 | c.*30 others(16): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 2499 | chr1 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35045764 | CTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0021a0003c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 others(38): Show |
45 | 213 | 0.2113 | -5 | c.88+ others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240866075 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01069.hp2 others(16): Show |
a0003a0011 | a0003c0004a0011c0016 | a0003c0004t0006a0011c0016t0002a0011c0016t0009 | a0003c0004t0006g0011 a0003c0004t0006g0034 a0003c0004t0006g0035 others(3): Show |
19 | 302 | 0.0629 | -5 | c.-27 others(16): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 2748 | chr2 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240883680 | ATTTCT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp1 |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0015 | a0001c0001t0001g0001 a0009c0012t0015g0080 a0009c0012t0015g0081 |
3 | 367 | 0.0082 | -5 | c.*48 others(16): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3181 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246838604 | TGGGCG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(111): Show |
a0001a0002a0008others(5): Show | a0001c0001a0001c0004a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(15): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(111): Show |
114 | 374 | 0.3048 | -5 | c.*21 others(16): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 493 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246839003 | CTTAGT | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01175.hp2 others(49): Show |
a0001a0002a0004others(5): Show | a0001c0004a0001c0012a0001c0037others(12): Show | a0001c0004t0002a0001c0004t0008a0001c0004t0012others(17): Show | a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 others(49): Show |
52 | 374 | 0.1390 | -5 | c.*17 others(16): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 94 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246843711 | TAAATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(116): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(15): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(116): Show |
119 | 374 | 0.3182 | -5 | c.652 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 34/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246862719 | GTAAGA | G | intron_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG02055.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0222 a0003c0003t0001g0280 a0003c0003t0001g0281 others(6): Show |
9 | 374 | 0.0241 | -5 | c.354 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 27/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246875040 | CTTATA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(101): Show |
a0001a0003a0008others(7): Show | a0001c0001a0001c0004a0001c0018others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(18): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(101): Show |
104 | 374 | 0.2781 | -5 | c.308 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 24/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246892301 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(81): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0004a0001c0010others(10): Show | a0001c0001t0001a0001c0004t0002a0001c0010t0001others(12): Show | a0001c0001t0001g0046 a0001c0001t0001g0169 a0001c0001t0001g0174 others(80): Show |
84 | 145 | 0.5793 | -5 | c.180 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 14/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246911790 | TTAAGA | T | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 HG02723.hp1 |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0014a0001c0007t0001a0004c0005t0005 | a0001c0001t0014g0003 a0001c0007t0001g0270 a0004c0005t0005g0005 |
3 | 374 | 0.0080 | -5 | c.556 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | |||||||
AHCYL1_chr1_109979765_110028742 | 110022374 | CAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0013 a0001c0001t0004g0031 a0001c0001t0004g0104 others(5): Show |
12 | 339 | 0.0354 | -5 | c.*70 others(14): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 17/17 | 705 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129251317 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG01993.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0088 a0001c0002t0001g0265 a0001c0002t0002g0191 others(3): Show |
6 | 23 | 0.2609 | -5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129269582 | GGTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(284): Show |
287 | 290 | 0.9897 | -5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129294017 | TTTAGA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0124 others(23): Show |
26 | 290 | 0.0897 | -5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129399141 | CAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0027others(1): Show | a0001c0001t0002g0185 a0001c0001t0006g0116 a0001c0001t0006g0117 others(5): Show |
8 | 83 | 0.0964 | -5 | c.824 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27546328 | CTTTTA | C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01884.hp2 others(10): Show |
a0001a0003a0004 | a0001c0006a0003c0004a0003c0009others(1): Show | a0001c0006t0001a0003c0004t0001a0003c0004t0004others(2): Show | a0001c0006t0001g0051 a0001c0006t0001g0067 a0001c0006t0001g0147 others(10): Show |
13 | 178 | 0.0730 | -5 | c.*43 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27592880 | AGAGAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0003c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0056 others(5): Show |
10 | 178 | 0.0562 | -5 | c.-62 others(26): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135283884 | CTGACA | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02922.hp2 HG03471.hp1 |
a0001 | a0001c0003a0001c0013a0001c0018 | a0001c0003t0013a0001c0013t0007a0001c0018t0007 | a0001c0003t0013g0046 a0001c0013t0007g0168 a0001c0018t0007g0175 |
3 | 218 | 0.0138 | -5 | c.*17 others(16): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 29/29 | 1756 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135294324 | TCAAAA | T | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG01891.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0084 a0001c0001t0003g0012 a0001c0001t0003g0032 others(19): Show |
22 | 189 | 0.1164 | -5 | c.348 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135297234 | CACATT | C | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0003a0012c0019t0003 | a0001c0001t0003g0012 a0001c0001t0003g0177 a0001c0001t0003g0178 others(1): Show |
4 | 218 | 0.0183 | -5 | c.348 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135362997 | AGATTT | A | intron_variant | MODIFIER | HG02056.hp1 HG03710.hp2 HG03834.hp2 others(6): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0002t0004a0001c0014t0004 | a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0025 others(6): Show |
9 | 218 | 0.0413 | -5 | c.311 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374104 | ATATAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0003g0182 others(3): Show |
6 | 199 | 0.0302 | -5 | c.311 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135376881 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG03041.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0073 a0001c0001t0002g0173 a0001c0001t0003g0029 others(2): Show |
5 | 40 | 0.1250 | -5 | c.310 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382894 | TAAAAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02976.hp2 others(2): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0020 | a0001c0001t0003a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0003g0012 a0001c0001t0004g0048 a0001c0001t0004g0174 others(2): Show |
5 | 177 | 0.0282 | -5 | c.310 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382923 | AAAAAT | A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG02109.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0082 others(2): Show |
5 | 190 | 0.0263 | -5 | c.310 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382927 | ATATAT | A | intron_variant | MODIFIER | HG00738.hp1 HG03453.hp2 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0002a0007c0011t0001 | a0001c0001t0002g0172 a0007c0011t0001g0059 |
2 | 203 | 0.0099 | -5 | c.310 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135470394 | GAAGAC | G | intron_variant | MODIFIER | HG03017.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 a0001c0001t0002g0200 |
2 | 218 | 0.0092 | -5 | c.136 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104973887 | CGGAGG | C | intron_variant | MODIFIER | HG02132.hp2 HG02155.hp2 NA18747.hp2 |
a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0033 a0013c0015t0001g0195 |
3 | 352 | 0.0085 | -5 | c.55+ others(20): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17296620 | TTAAGG | T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02723.hp1 HG02976.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0008a0008c0007t0008 | a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0056 others(1): Show |
4 | 368 | 0.0109 | -5 | c.-26 others(16): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 2031 | chr7 | TogoVar | |||||||
AHSA1_chr14_77453093_77474472 | 77463595 | AAAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00544.hp2 others(124): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(41): Show |
127 | 306 | 0.4150 | -5 | c.472 others(20): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77467703 | AAAAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00544.hp2 others(128): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(41): Show |
131 | 295 | 0.4441 | -5 | c.691 others(20): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AICDA_chr12_8597170_8617859 | 8604496 | TAAAAA | T | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG01169.hp1 others(36): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0003g0017 a0001c0001t0003g0039 a0001c0001t0003g0040 others(27): Show |
39 | 351 | 0.1111 | -5 | c.544 others(20): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8610992 | TTTGTG | T | intron_variant | MODIFIER | HG00621.hp1 NA18944.hp2 NA18993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0002t0003g0173 |
4 | 456 | 0.0088 | -5 | c.8+1 others(18): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8616568 | TCCTGG | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01993.hp2 HG02258.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0007 a0001c0001t0003g0039 a0001c0001t0003g0040 others(7): Show |
11 | 456 | 0.0241 | -5 | c.-38 others(16): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3710 | chr12 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222683483 | CTTTAT | C | intron_variant | MODIFIER | HG00438.hp2 HG02602.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 others(1): Show |
4 | 366 | 0.0109 | -5 | c.460 others(22): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222686159 | TCAAAA | T | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0105 a0001c0001t0002g0112 others(1): Show |
5 | 366 | 0.0137 | -5 | c.460 others(20): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131093350 | TCGAGA | T | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0302 |
3 | 422 | 0.0071 | -5 | c.-32 others(16): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 3180 | chr9 | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130151139 | ATTCTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0233 a0002c0005t0001g0234 |
2 | 260 | 0.0077 | -5 | c.250 others(22): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130152092 | GGAAGA | G | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp1 NA19240.hp1 |
a0001a0003 | a0001c0004a0003c0007 | a0001c0004t0001a0003c0007t0001 | a0001c0004t0001g0086 a0001c0004t0001g0087 a0003c0007t0001g0030 |
3 | 260 | 0.0115 | -5 | c.250 others(22): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar |