| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGMO_chr7_15195317_15567015 | 15430001 | C | CAGGAGTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(93): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0028others(93): Show | 96 | 236 | 0.4068 | 9 | c.513 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15430001 | C | CAGGAGTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01081.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0036others(12): Show | 15 | 236 | 0.0636 | 9 | c.513 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15493362 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02809.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0008others(3): Show | a0001c0001t0002g0117a0001c0003t0001g0034a0001c0003t0008g0118others(3): Show | 6 | 236 | 0.0254 | 9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15513297 | C | CTACATTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(196): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0027others(196): Show | 199 | 236 | 0.8432 | 9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15529622 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02055.hp1 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0001a0002c0004t0003 | a0001c0005t0001g0007a0002c0004t0003g0012 | 2 | 236 | 0.0085 | 9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGO4_chr1_35803016_35862890 | 35808170 | T | TGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0017 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0007g0017others(2): Show | 5 | 270 | 0.0185 | 9 | c.-22 others(18): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 1/18 | 220 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| AGPAT4_chr6_161124967_161279061 | 161205761 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01123.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0245a0001c0001t0002g0247a0001c0001t0006g0057others(32): Show | 35 | 264 | 0.1326 | 9 | c.178 others(28): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
| AGPAT5_chr8_6703642_6766503 | 6717797 | C | CTTTACGG others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0002a0001c0003t0006others(2): Show | a0001c0001t0001g0071a0001c0003t0002g0303a0001c0003t0002g0304others(6): Show | 14 | 404 | 0.0347 | 9 | c.220 others(26): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01928.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0022 | a0001c0001t0001g0063a0001c0001t0001g0086a0001c0001t0001g0095others(10): Show | 14 | 404 | 0.0347 | 9 | c.*47 others(20): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | ||||||
| AGPS_chr2_177387773_177548834 | 177436139 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0107others(69): Show | 72 | 258 | 0.2791 | 9 | c.442 others(24): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGR2_chr7_16786811_16809999 | 16791067 | G | GAGAGGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 NA18947.hp1 NA18974.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0065a0001c0001t0001g0099others(1): Show | 4 | 460 | 0.0087 | 9 | c.*18 others(20): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 743 | chr7 | TogoVar | ||||||
| AGR3_chr7_16854412_16886983 | 16854435 | A | AAACAATG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(415): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(275): Show | 418 | 458 | 0.9127 | 9 | c.*51 others(20): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4976 | chr7 | TogoVar | ||||||
| AGR3_chr7_16854412_16886983 | 16854435 | A | AAACAGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0052a0001c0001t0003g0053a0001c0001t0003g0128others(9): Show | 12 | 458 | 0.0262 | 9 | c.*51 others(20): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4976 | chr7 | TogoVar | ||||||
| AGTPBP1_chr9_85541539_85746954 | 85566529 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG02451.hp1 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0083a0001c0001t0001g0084others(12): Show | 15 | 302 | 0.0497 | 9 | c.350 others(28): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
| AGXT2_chr5_34993102_35052949 | 35041223 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(104): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0002c0002others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(21): Show | a0001c0001t0001g0015a0001c0003t0001g0029a0001c0003t0001g0044others(99): Show | 107 | 384 | 0.2787 | 9 | c.89- others(22): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
| AGXT2_chr5_34993102_35052949 | 35041223 | C | CGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG01192.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0021a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0185others(16): Show | 19 | 384 | 0.0495 | 9 | c.89- others(22): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
| AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(20): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0016 | a0001c0001t0002a0001c0001t0018a0001c0002t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0021others(9): Show | 23 | 444 | 0.0518 | 9 | c.*17 others(20): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | ||||||
| AHCYL2_chr7_129220030_129435211 | 129324059 | C | CGTAGATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(250): Show | 253 | 292 | 0.8664 | 9 | c.364 others(28): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AHDC1_chr1_27529245_27609144 | 27531094 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02922.hp2 others(3): Show |
a0003 | a0003c0004a0003c0009 | a0003c0004t0002a0003c0004t0006a0003c0004t0015others(2): Show | a0003c0004t0002g0074a0003c0004t0006g0061a0003c0004t0006g0075others(3): Show | 6 | 180 | 0.0333 | 9 | c.*38 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3150 | chr1 | TogoVar | ||||||
| AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp2 others(66): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0004c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0053others(66): Show | 69 | 220 | 0.3136 | 9 | c.310 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
| AHI1_chr6_135278532_135502740 | 135472018 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01175.hp1 others(8): Show |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0001a0010c0020t0004 | a0001c0001t0001g0117a0001c0001t0001g0121a0001c0001t0001g0124others(8): Show | 11 | 220 | 0.0500 | 9 | c.136 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
| AHSA1_chr14_77453093_77474472 | 77468721 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0001a0001c0007t0001 | a0001c0002t0001g0012a0001c0002t0001g0143a0001c0004t0001g0020others(1): Show | 9 | 308 | 0.0292 | 9 | c.844 others(24): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AIFM1_chrX_130124362_130170841 | 130127691 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 NA19043.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0027a0001c0003t0001g0131a0001c0003t0001g0132 | 3 | 262 | 0.0115 | 9 | c.*18 others(20): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1670 | chrX | TogoVar | ||||||
| AIG1_chr6_143055889_143346058 | 143331846 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG02970.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0116a0001c0001t0001g0176a0001c0001t0004g0076others(6): Show | 9 | 204 | 0.0441 | 9 | c.516 others(26): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AIRE_chr21_44280876_44303648 | 44303440 | A | AGACTTGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00733.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0002others(9): Show | a0001c0001t0001g0171a0001c0003t0002g0003a0001c0003t0002g0005others(25): Show | 43 | 426 | 0.1009 | 9 | c.*57 others(20): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4793 | chr21 | TogoVar | ||||||
| AJAP1_chr1_4649609_4797534 | 4651882 | C | CAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(55): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(51): Show | a0001c0001t0002g0285a0001c0001t0004g0001a0001c0001t0005g0206others(55): Show | 58 | 334 | 0.1737 | 9 | c.-35 others(20): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2726 | chr1 | TogoVar | ||||||
| AK2_chr1_33002986_33041883 | 33036895 | G | GCACGCAC others(2): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0239 | 3 | 350 | 0.0086 | 9 | c.-76 others(16): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 13 | chr1 | TogoVar | ||||||
| AK4_chr1_65143203_65237145 | 65215160 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0002c0004t0009a0002c0004t0054 | a0001c0001t0009g0267a0001c0001t0009g0269a0002c0004t0009g0222others(2): Show | 5 | 300 | 0.0167 | 9 | c.266 others(26): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77367703 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0164a0001c0001t0003g0165a0001c0001t0003g0170others(5): Show | 8 | 284 | 0.0282 | 9 | c.891 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77387935 | A | AACCATTA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0004a0002c0002t0002g0002a0002c0002t0002g0143others(1): Show | 4 | 284 | 0.0141 | 9 | c.892 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77406704 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG01978.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0036a0001c0001t0004g0022a0001c0001t0004g0029others(7): Show | 10 | 284 | 0.0352 | 9 | c.892 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
| AK8_chr9_132720578_132883284 | 132848115 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0121a0001c0001t0001g0123others(32): Show | 35 | 266 | 0.1316 | 9 | c.402 others(26): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | ||||||
| AK9_chr6_109487855_109696202 | 109549664 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(64): Show |
a0002a0005a0010others(1): Show | a0002c0001a0002c0016a0002c0025others(5): Show | a0002c0001t0001a0002c0001t0002a0002c0016t0002others(6): Show | a0002c0001t0001g0290a0002c0001t0002g0002a0002c0001t0002g0003others(62): Show | 67 | 378 | 0.1773 | 9 | c.296 others(26): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 25/40 | chr6 | TogoVar | ||||||
| AK9_chr6_109487855_109696202 | 109682426 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG02895.hp1 others(5): Show |
a0001a0008 | a0001c0002a0001c0007a0008c0012 | a0001c0002t0002a0001c0007t0002a0008c0012t0004 | a0001c0002t0002g0111a0001c0002t0002g0120a0001c0002t0002g0132others(5): Show | 8 | 378 | 0.0212 | 9 | c.-11 others(26): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | ||||||
| AKAP10_chr17_19899302_19982828 | 19910325 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0183a0001c0001t0003g0184a0001c0001t0003g0186others(40): Show | 43 | 278 | 0.1547 | 9 | c.183 others(26): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 12/14 | chr17 | TogoVar | ||||||
| AKAP10_chr17_19899302_19982828 | 19946166 | A | AATATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01070.hp1 others(47): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0052a0001c0001t0002g0010a0001c0001t0002g0011others(45): Show | 50 | 278 | 0.1799 | 9 | c.976 others(26): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
| AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01106.hp2 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0012others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0012t0020others(11): Show | a0001c0002t0001g0064a0001c0002t0001g0100a0001c0002t0001g0283others(20): Show | 23 | 316 | 0.0728 | 9 | c.163 others(26): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AKAP12_chr6_151234967_151363559 | 151332031 | C | CTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(43): Show |
a0002a0003a0005others(11): Show | a0002c0001a0002c0005a0002c0035others(17): Show | a0002c0001t0002a0002c0001t0010a0002c0001t0012others(25): Show | a0002c0001t0002g0043a0002c0001t0002g0055a0002c0001t0002g0133others(43): Show | 46 | 316 | 0.1456 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AKAP12_chr6_151234967_151363559 | 151337512 | G | GGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 NA18906.hp2 |
a0011 | a0011c0021a0011c0030 | a0011c0021t0049a0011c0030t0016 | a0011c0021t0049g0019a0011c0030t0016g0017a0011c0030t0016g0114 | 3 | 316 | 0.0095 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
| AKAP12_chr6_151234967_151363559 | 151337524 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01169.hp2 HG01175.hp1 others(34): Show |
a0003a0004a0005others(10): Show | a0003c0004a0004c0007a0004c0013others(11): Show | a0003c0004t0003a0004c0007t0004a0004c0013t0004others(16): Show | a0003c0004t0003g0103a0004c0007t0004g0091a0004c0007t0004g0098others(34): Show | 37 | 316 | 0.1171 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AKAP12_chr6_151234967_151363559 | 151337524 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(85): Show |
a0002a0008a0010others(8): Show | a0002c0001a0002c0005a0002c0035others(13): Show | a0002c0001t0002a0002c0001t0005a0002c0001t0010others(30): Show | a0002c0001t0002g0018a0002c0001t0002g0023a0002c0001t0002g0025others(85): Show | 88 | 316 | 0.2785 | 9 | c.320 others(28): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AKAP13_chr15_85375603_85754355 | 85483632 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG00741.hp2 others(16): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0003c0003others(6): Show | a0001c0002t0008a0001c0002t0027a0001c0004t0001others(11): Show | a0001c0002t0008g0284a0001c0002t0027g0294a0001c0004t0001g0285others(16): Show | 19 | 314 | 0.0605 | 9 | c.-11 others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AKAP13_chr15_85375603_85754355 | 85491493 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00642.hp2 others(66): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0007others(21): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(35): Show | a0001c0002t0001g0005a0001c0002t0006g0008a0001c0002t0006g0009others(66): Show | 69 | 314 | 0.2198 | 9 | c.33+ others(24): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AKAP13_chr15_85375603_85754355 | 85504503 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02135.hp1 others(4): Show |
a0002a0003a0006 | a0002c0001a0003c0003a0006c0008 | a0002c0001t0002a0002c0001t0045a0003c0003t0003others(4): Show | a0002c0001t0002g0313a0002c0001t0045g0190a0003c0003t0003g0116others(4): Show | 7 | 314 | 0.0223 | 9 | c.34- others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AKAP13_chr15_85375603_85754355 | 85606090 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00639.hp1 others(15): Show |
a0002a0008a0031others(1): Show | a0002c0001a0002c0017a0008c0009others(2): Show | a0002c0001t0002a0002c0001t0007a0002c0001t0044others(5): Show | a0002c0001t0002g0049a0002c0001t0002g0144a0002c0001t0002g0155others(15): Show | 18 | 314 | 0.0573 | 9 | c.416 others(30): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AKAP14_chrX_119890893_119925716 | 119893990 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 304 | 0.0033 | 9 | c.-21 others(20): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 1902 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1588411 | C | CCTCCCCT others(2): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 151 | 0.0066 | 9 | c.-33 others(20): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3192 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1588574 | C | CCTCCCCT others(2): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0074 | 1 | 151 | 0.0066 | 9 | c.-32 others(20): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3029 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1588778 | C | CCCTTCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0074 | 1 | 151 | 0.0066 | 9 | c.-30 others(20): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2825 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1596524 | A | ATTCCTCC others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0002a0006 | a0002c0002a0006c0027 | a0002c0002t0005a0002c0002t0016a0002c0002t0017others(1): Show | a0002c0002t0005g0009a0002c0002t0005g0069a0002c0002t0016g0068others(2): Show | 6 | 151 | 0.0397 | 9 | c.911 others(24): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | TogoVar |