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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL1_chr15_86074871_86921156 | 86741381 | C | CAAAAAAA | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 HG02698.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0013others(5): Show | a0001c0002t0002a0001c0004t0052a0001c0013t0005others(5): Show | a0001c0002t0002g0127a0001c0004t0052g0030a0001c0013t0005g0118others(5): Show | 8 | 132 | 0.0606 | 7 | c.315 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL4_chr1_48527854_50028954 | 48769526 | A | ACACACAC | intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0014a0002c0003t0001 | a0001c0001t0004g0065a0001c0001t0014g0031a0002c0003t0001g0013 | 3 | 104 | 0.0289 | 7 | c.634 others(26): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49530259 | T | TAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG02004.hp1 HG02071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0040a0001c0001t0001g0042others(4): Show | 7 | 104 | 0.0673 | 7 | c.282 others(28): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AGFG1_chr2_227467156_227566217 | 227507602 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01934.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0058a0001c0003t0003g0059a0001c0003t0003g0061others(4): Show | 7 | 328 | 0.0213 | 7 | c.262 others(26): Show |
AGFG1 | ENSG00000173744.18 | transcript | ENST00000310078.13 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGFG1_chr2_227467156_227566217 | 227539442 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02129.hp1 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0041a0001c0004t0006a0001c0004t0009others(1): Show | a0001c0001t0041g0081a0001c0004t0006g0001a0001c0004t0006g0031others(16): Show | 20 | 328 | 0.0610 | 7 | c.137 others(26): Show |
AGFG1 | ENSG00000173744.18 | transcript | ENST00000310078.13 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGGF1_chr5_77025404_77070234 | 77032252 | T | TAAAAAAA | intron_variant | MODIFIER | HG01358.hp2 NA18959.hp2 NA18965.hp1 others(3): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0002a0002c0003t0014a0002c0008t0002 | a0002c0003t0002g0032a0002c0003t0002g0033a0002c0003t0002g0035others(3): Show | 6 | 438 | 0.0137 | 7 | c.210 others(24): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15202458 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01109.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0035a0001c0001t0001g0063a0001c0001t0001g0086others(18): Show | 21 | 236 | 0.0890 | 7 | c.126 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15342172 | T | TAAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG02165.hp2 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(3): Show | a0001c0001t0001g0099a0001c0001t0004g0184a0001c0005t0001g0006others(3): Show | 6 | 236 | 0.0254 | 7 | c.126 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15342801 | A | AAAAAAAC | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0001a0002c0002t0001 | a0001c0001t0002g0023a0001c0001t0002g0069a0001c0003t0001g0190others(2): Show | 5 | 236 | 0.0212 | 7 | c.126 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15430918 | G | GTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01884.hp2 others(13): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(7): Show | a0001c0001t0001g0026a0001c0001t0001g0149a0001c0001t0005g0049others(13): Show | 16 | 236 | 0.0678 | 7 | c.513 others(20): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15493334 | A | ACACACAC | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0003 | a0001c0001t0001g0036a0002c0004t0003g0012 | 2 | 236 | 0.0085 | 7 | c.409 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15493362 | C | CACACACA | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02896.hp1 others(10): Show |
a0001a0002a0016 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0160others(10): Show | 13 | 236 | 0.0551 | 7 | c.409 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140568287 | G | GAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01168.hp1 HG02027.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(22): Show | a0001c0001t0001g0108a0001c0001t0001g0132a0001c0001t0003g0007others(32): Show | 35 | 338 | 0.1036 | 7 | c.336 others(24): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 3/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140595949 | T | TATATATA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(228): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(121): Show | a0001c0001t0001g0008a0001c0001t0001g0062a0001c0001t0001g0068others(228): Show | 231 | 338 | 0.6834 | 7 | c.23- others(24): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36046623 | T | TAAAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 NA18980.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(2): Show | a0001c0001t0001g0127a0001c0001t0007g0196a0001c0001t0018g0037others(2): Show | 5 | 258 | 0.0194 | 7 | c.227 others(26): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01516.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0140a0001c0001t0001g0194others(13): Show | 17 | 404 | 0.0421 | 7 | c.*47 others(18): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177396937 | C | CTTTTCTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(152): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0092a0001c0001t0001g0094a0001c0001t0001g0095others(152): Show | 155 | 258 | 0.6008 | 7 | c.260 others(24): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177436139 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0026others(47): Show | 50 | 258 | 0.1938 | 7 | c.442 others(22): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGR2_chr7_16786811_16809999 | 16791060 | A | AAGAGGGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG01516.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(9): Show | 26 | 460 | 0.0565 | 7 | c.*18 others(18): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 750 | chr7 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16855389 | T | TACTTAGC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0148others(87): Show | 122 | 458 | 0.2664 | 7 | c.*41 others(18): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4022 | chr7 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16880521 | T | TCTTTCCC | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01069.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0043others(8): Show | 18 | 458 | 0.0393 | 7 | c.-28 others(24): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11750213 | G | GCCCTGCC | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG03486.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0087a0001c0001t0007g0125a0001c0001t0007g0133 | 3 | 420 | 0.0071 | 7 | c.*24 others(14): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 5/5 | 31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AGXT2_chr5_34993102_35052949 | 35041223 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01433.hp2 HG02083.hp1 others(30): Show |
a0001a0003a0010others(2): Show | a0001c0001a0003c0006a0010c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0132others(27): Show | 33 | 384 | 0.0859 | 7 | c.89- others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01928.hp2 others(37): Show |
a0001a0018 | a0001c0001a0001c0002a0018c0022 | a0001c0001t0004a0001c0001t0014a0001c0001t0017others(2): Show | a0001c0001t0004g0001a0001c0001t0004g0004a0001c0001t0004g0008others(10): Show | 40 | 444 | 0.0901 | 7 | c.*48 others(18): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01978.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0035a0001c0001t0001g0040others(11): Show | 16 | 350 | 0.0457 | 7 | c.*43 others(18): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01516.hp2 HG02523.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0270a0001c0002t0002g0212a0001c0002t0003g0206others(3): Show | 6 | 292 | 0.0206 | 7 | c.363 others(26): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129370400 | A | ATTGGTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(146): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(146): Show | 149 | 292 | 0.5103 | 7 | c.364 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129403860 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140a0001c0001t0001g0147a0001c0001t0001g0149others(7): Show | 10 | 292 | 0.0343 | 7 | c.102 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHRR_chr5_316714_443285 | 332929 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02145.hp2 others(22): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0003others(3): Show | a0001c0001t0032a0002c0002t0007a0004c0003t0007others(13): Show | a0001c0001t0032g0227a0002c0002t0007g0028a0004c0003t0007g0221others(22): Show | 25 | 268 | 0.0933 | 7 | c.-10 others(26): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02071.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0024a0001c0001t0027others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0142a0001c0001t0024g0031others(3): Show | 6 | 268 | 0.0224 | 7 | c.*66 others(18): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77468721 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0038a0001c0002t0001g0039a0001c0002t0001g0040others(6): Show | 9 | 308 | 0.0292 | 7 | c.844 others(22): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AIF1_chr6_31610234_31622015 | 31620655 | A | AGGGAGGT | downstream_gene_variant | MODIFIER | HG01515.hp2 NA18998.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0005 | 4 | 437 | 0.0092 | 7 | c.*37 others(18): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 3641 | chr6 | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130127691 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp1 others(105): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0004a0003c0009others(3): Show | a0001c0002t0001a0001c0004t0001a0003c0009t0001others(3): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(99): Show | 108 | 262 | 0.4122 | 7 | c.*18 others(18): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1670 | chrX | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02129.hp1 NA18747.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(2): Show | 9 | 384 | 0.0234 | 7 | c.*23 others(18): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GTGTGTGT | intron_variant | MODIFIER | HG02738.hp1 NA18966.hp2 NA19066.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0199a0002c0003t0197a0002c0004t0010others(1): Show | a0001c0002t0199g0267a0002c0003t0197g0268a0002c0004t0010g0151others(1): Show | 4 | 334 | 0.0120 | 7 | c.29+ others(24): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4694179 | C | CCAGTCTG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(151): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0026others(120): Show | a0001c0001t0003g0318a0001c0001t0005g0202a0001c0001t0005g0203others(148): Show | 154 | 334 | 0.4611 | 7 | c.30- others(24): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK3_chr9_4704556_4746202 | 4729015 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0037a0001c0001t0002g0140others(12): Show | 17 | 462 | 0.0368 | 7 | c.152 others(24): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65232856 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01358.hp2 HG02109.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0069a0001c0001t0072a0001c0002t0002others(5): Show | a0001c0001t0069g0031a0001c0001t0072g0007a0001c0002t0002g0004others(14): Show | 17 | 300 | 0.0567 | 7 | c.*66 others(18): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 712 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367820 | A | AATATATG | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG02129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0008 | a0001c0001t0001g0027a0001c0001t0001g0055a0001c0001t0003g0184others(1): Show | 4 | 284 | 0.0141 | 7 | c.891 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368237 | A | ATATATGT | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0002 | a0001c0001t0001g0116a0001c0001t0001g0120a0001c0001t0001g0123others(4): Show | 7 | 284 | 0.0247 | 7 | c.891 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368265 | A | ATATATAT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG02071.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0002c0002t0002 | a0001c0001t0001g0042a0001c0001t0001g0045a0001c0001t0001g0048others(3): Show | 6 | 284 | 0.0211 | 7 | c.891 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368284 | T | TATATATA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0078a0001c0001t0001g0111a0001c0001t0001g0258others(55): Show | 58 | 284 | 0.2042 | 7 | c.891 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96443780 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(189): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0006a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(189): Show | 192 | 316 | 0.6076 | 7 | c.779 others(22): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK8_chr9_132720578_132883284 | 132765292 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0125a0001c0001t0001g0126others(17): Show | 20 | 266 | 0.0752 | 7 | c.112 others(28): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 11/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132848115 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG02004.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0097a0001c0001t0001g0120others(4): Show | 7 | 266 | 0.0263 | 7 | c.402 others(24): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109576420 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp2 others(49): Show |
a0002a0010a0011others(1): Show | a0002c0001a0002c0025a0010c0014others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0025t0002others(3): Show | a0002c0001t0001g0290a0002c0001t0002g0002a0002c0001t0002g0003others(47): Show | 52 | 378 | 0.1376 | 7 | c.219 others(26): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109682426 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02559.hp1 others(5): Show |
a0001a0007a0012 | a0001c0002a0001c0007a0007c0009others(1): Show | a0001c0002t0002a0001c0007t0002a0007c0009t0001others(1): Show | a0001c0002t0002g0138a0001c0007t0002g0147a0007c0009t0001g0083others(5): Show | 8 | 378 | 0.0212 | 7 | c.-11 others(24): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | ||||||
AKAP10_chr17_19899302_19982828 | 19946276 | T | TATATATA | intron_variant | MODIFIER | HG02970.hp2 NA18966.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078a0002c0002t0001g0096a0002c0002t0001g0129 | 3 | 278 | 0.0108 | 7 | c.976 others(24): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151297019 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01993.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0011a0002c0001others(4): Show | a0001c0002t0001a0001c0011t0001a0002c0001t0002others(4): Show | a0001c0002t0001g0215a0001c0002t0001g0239a0001c0011t0001g0272others(6): Show | 9 | 316 | 0.0285 | 7 | c.163 others(24): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151312793 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01255.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0002c0001others(11): Show | a0001c0002t0001a0001c0003t0021a0002c0001t0002others(12): Show | a0001c0002t0001g0147a0001c0003t0021g0201a0002c0001t0002g0018others(15): Show | 18 | 316 | 0.0570 | 7 | c.319 others(24): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |