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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO3_chr1_35926105_36077500 | 35928565 | TAAGCCAC | T | upstream_gene_variant | MODIFIER | HG02129.hp2 HG03471.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0030a0001c0006t0029 | a0001c0005t0030g0011 a0001c0006t0029g0013 |
2 | 256 | 0.0078 | -7 | c.-28 others(18): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2539 | chr1 | TogoVar | |||||||
AGO3_chr1_35926105_36077500 | 35944544 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01074.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0019a0001c0001t0025others(5): Show | a0001c0001t0005g0014 a0001c0001t0005g0016 a0001c0001t0005g0017 others(14): Show |
17 | 218 | 0.0780 | -7 | c.20- others(22): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35952137 | TTTCTTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(74): Show |
77 | 256 | 0.3008 | -7 | c.191 others(24): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35952141 | TTTCTTTC | T | intron_variant | MODIFIER | HG01243.hp1 HG02602.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0001t0027others(4): Show | a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0115 others(6): Show |
9 | 256 | 0.0352 | -7 | c.191 others(24): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT1_chr6_32163212_32181084 | 32166366 | ATGGGGGT | A | downstream_gene_variant | MODIFIER | HG01358.hp2 NA18945.hp1 NA18963.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 12 | 444 | 0.0270 | -7 | c.*29 others(18): Show |
AGPAT1 | ENSG00000204310.13 | transcript | ENST00000375107.8 | protein_coding | 1845 | chr6 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43926636 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0054 a0001c0001t0001g0197 a0001c0001t0001g0200 others(96): Show |
99 | 162 | 0.6111 | -7 | c.-49 others(26): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6724667 | TACCGTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(308): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(243): Show |
311 | 402 | 0.7736 | -7 | c.220 others(22): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177389754 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02055.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0001g0144 a0001c0001t0005g0250 a0001c0001t0005g0251 others(23): Show |
26 | 34 | 0.7647 | -7 | c.-30 others(18): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3018 | chr2 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177405863 | TAACTCTC | T | intron_variant | MODIFIER | HG02165.hp1 NA18999.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0246 a0001c0001t0011g0247 a0001c0001t0011g0248 |
3 | 256 | 0.0117 | -7 | c.260 others(26): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177478064 | TATCTGGG | T | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0039g0100 |
3 | 256 | 0.0117 | -7 | c.110 others(26): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85668766 | ATTAATAT | A | intron_variant | MODIFIER | HG00544.hp1 HG01975.hp1 HG02698.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0003c0006t0001 | a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0054 others(5): Show |
8 | 300 | 0.0267 | -7 | c.662 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246848706 | TACAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(134): Show |
a0001a0002a0008others(7): Show | a0001c0001a0001c0004a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(20): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(134): Show |
137 | 374 | 0.3663 | -7 | c.639 others(24): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 33/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246878396 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01106.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0100 a0003c0003t0001g0128 a0003c0003t0001g0129 others(5): Show |
8 | 94 | 0.0851 | -7 | c.266 others(26): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | GTTTTTTT | G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01074.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0174 others(9): Show |
12 | 22 | 0.5455 | -7 | c.363 others(26): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135376881 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01169.hp1 others(19): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0062 others(19): Show |
22 | 57 | 0.3860 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382921 | AAAAAAAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0094 others(6): Show |
9 | 218 | 0.0413 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382923 | AAAAATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01074.hp1 others(22): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0060 others(22): Show |
25 | 210 | 0.1190 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382925 | AAATATAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02559.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0016a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0081 a0001c0001t0001g0169 others(6): Show |
9 | 206 | 0.0437 | -7 | c.310 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHNAK_chr11_62510902_62551806 | 62544380 | TCCATATC | T | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0097 a0001c0018t0001g0098 a0001c0018t0001g0099 |
3 | 184 | 0.0163 | -7 | c.-10 others(26): Show |
AHNAK | ENSG00000124942.14 | transcript | ENST00000378024.9 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 441497 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG02451.hp2 others(4): Show |
a0002a0005a0006 | a0002c0002a0005c0005a0006c0006 | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(2): Show | a0002c0002t0001g0121 a0002c0002t0001g0190 a0002c0002t0006g0085 others(4): Show |
7 | 19 | 0.3684 | -7 | c.*66 others(18): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222688271 | TTCCTCTC | T | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG02148.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0053 a0001c0001t0004g0054 others(6): Show |
10 | 366 | 0.0273 | -7 | c.290 others(22): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIF1_chr6_31610234_31622015 | 31613161 | AAAAAAAC | A | upstream_gene_variant | MODIFIER | HG02071.hp2 HG02683.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 6 | 436 | 0.0138 | -7 | c.-21 others(18): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 2072 | chr6 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70125437 | CAAAAAAA | C | intron_variant | MODIFIER | HG02132.hp1 HG02280.hp1 HG02451.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(8): Show | a0001c0001t0001g0078 a0001c0001t0005g0065 a0001c0001t0011g0043 others(11): Show |
16 | 25 | 0.6400 | -7 | c.-13 others(24): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143060820 | CGCCCGCG | C | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0011 |
2 | 202 | 0.0099 | -7 | c.-10 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 68 | chr6 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6438562 | TTGGCCAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(55): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 others(176): Show |
260 | 452 | 0.5752 | -7 | c.-34 others(18): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 3442 | chr17 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4652704 | CGGTTGCA | C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG03486.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0016a0001c0001t0066a0001c0002t0011others(3): Show | a0001c0001t0016g0322 a0001c0001t0066g0234 a0001c0002t0011g0235 others(3): Show |
6 | 332 | 0.0181 | -7 | c.-27 others(18): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1904 | chr1 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4671405 | GAGGACAT | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0318 others(101): Show |
107 | 332 | 0.3223 | -7 | c.29+ others(24): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4705395 | CTTTTTTT | C | intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 HG02129.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0052a0001c0001t0145a0001c0001t0177others(5): Show | a0001c0001t0052g0017 a0001c0001t0145g0045 a0001c0001t0177g0319 others(6): Show |
9 | 54 | 0.1667 | -7 | c.30- others(22): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4710374 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0014others(5): Show | a0001c0001t0004g0010 a0001c0001t0004g0016 a0001c0001t0004g0081 others(41): Show |
46 | 263 | 0.1749 | -7 | c.*25 others(18): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 5/5 | 2595 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65152384 | ATTTTTTT | A | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG02071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(11): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0010g0154 others(19): Show |
23 | 95 | 0.2421 | -7 | c.145 others(24): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65211237 | AGTAATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(133): Show |
139 | 298 | 0.4664 | -7 | c.266 others(24): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65226809 | TTTTTTTC | T | 3_prime_UTR_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG03195.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0001c0001t0057a0002c0004t0009 | a0001c0001t0009g0009 a0001c0001t0009g0263 a0001c0001t0009g0265 others(3): Show |
6 | 298 | 0.0201 | -7 | c.*63 others(16): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 5/5 | 639 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77279234 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(50): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(6): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 others(50): Show |
53 | 124 | 0.4274 | -7 | c.-30 others(18): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 2784 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77281921 | GGCGCGGA | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01192.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0280 a0001c0001t0004g0272 a0001c0001t0004g0273 others(14): Show |
17 | 282 | 0.0603 | -7 | c.-39 others(16): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 97 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77368232 | TATATATA | T | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0004 a0002c0002t0002g0002 a0002c0002t0012g0003 |
3 | 282 | 0.0106 | -7 | c.891 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77376444 | AAAAAAAC | A | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03098.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0024a0002c0002t0002others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0224 a0001c0001t0024g0234 others(8): Show |
11 | 282 | 0.0390 | -7 | c.892 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77499869 | CATTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01257.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0057 others(25): Show |
28 | 75 | 0.3733 | -7 | c.114 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 10/13 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77533509 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(119): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(119): Show |
122 | 170 | 0.7176 | -7 | c.142 others(26): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK6_chr5_69345984_69374520 | 69351256 | TGCCTCAA | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0002g0067 others(4): Show |
9 | 420 | 0.0214 | -7 | c.*79 others(16): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 5/5 | 798 | chr5 | TogoVar | ||||||
AK6_chr5_69345984_69374520 | 69361969 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02486.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0094 a0001c0001t0001g0143 others(2): Show |
6 | 294 | 0.0204 | -7 | c.121 others(24): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
AK6_chr5_69345984_69374520 | 69373685 | AATTTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01069.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(12): Show |
22 | 232 | 0.0948 | -7 | c.-42 others(18): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 4166 | chr5 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132724019 | GAGCCGCC | G | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01167.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0194 others(7): Show |
10 | 264 | 0.0379 | -7 | c.*16 others(18): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 1558 | chr9 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109684873 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01891.hp2 others(28): Show |
a0002a0005a0009 | a0002c0002a0002c0007a0002c0008others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0007t0002others(4): Show | a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 others(28): Show |
31 | 57 | 0.5439 | -7 | c.-12 others(24): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | |||||||
AKAIN1_chr18_5137911_5202257 | 5141212 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02258.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0025 a0001c0001t0004g0087 others(16): Show |
23 | 167 | 0.1377 | -7 | c.*43 others(18): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 1698 | chr18 | TogoVar | |||||||
AKAIN1_chr18_5137911_5202257 | 5192434 | TTTCTTTC | T | intron_variant | MODIFIER | HG01978.hp2 HG02004.hp1 HG02273.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0261 a0001c0001t0002g0023 a0001c0001t0002g0251 others(5): Show |
10 | 418 | 0.0239 | -7 | c.16+ others(22): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19911835 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG02083.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0005a0003c0003t0008others(1): Show | a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 others(11): Show |
14 | 31 | 0.4516 | -7 | c.183 others(26): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 12/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19946230 | ATATATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG02083.hp2 NA18943.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0008a0003c0003t0023 | a0003c0003t0005g0233 a0003c0003t0005g0239 a0003c0003t0005g0240 others(11): Show |
14 | 276 | 0.0507 | -7 | c.976 others(24): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19946275 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01496.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0005others(2): Show | a0001c0001t0002g0050 a0002c0002t0002g0144 a0003c0003t0005g0233 others(16): Show |
19 | 156 | 0.1218 | -7 | c.976 others(24): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | |||||||
AKAP11_chr13_42267152_42328261 | 42314446 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(27): Show |
a0001a0009a0015 | a0001c0003a0009c0014a0015c0020 | a0001c0003t0010a0001c0003t0022a0001c0003t0025others(7): Show | a0001c0003t0010g0017 a0001c0003t0010g0023 a0001c0003t0010g0042 others(20): Show |
30 | 131 | 0.2290 | -7 | c.540 others(24): Show |
AKAP11 | ENSG00000023516.9 | transcript | ENST00000025301.4 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151268945 | GTTTTTTT | G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0001a0003c0004others(5): Show | a0001c0002t0001a0002c0001t0002a0003c0004t0003others(6): Show | a0001c0002t0001g0138 a0002c0001t0002g0018 a0002c0001t0002g0211 others(9): Show |
12 | 35 | 0.3429 | -7 | c.162 others(26): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |