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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0175a0001c0001t0001g0178a0001c0001t0001g0179others(6): Show | 11 | 442 | 0.0249 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02074.hp1 HG02602.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0001a0001c0002t0001a0006c0006t0001 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0002t0001g0208others(2): Show | 5 | 442 | 0.0113 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 NA19056.hp2 NA19076.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0235others(1): Show | 4 | 442 | 0.0091 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0070 | 2 | 442 | 0.0045 | 18 | c.574 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18979.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0017a0001c0004t0005 | a0001c0002t0017g0359a0001c0004t0005g0247 | 2 | 454 | 0.0044 | 18 | c.276 others(33): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0172 | 1 | 454 | 0.0022 | 18 | c.276 others(33): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4752151 | G | GGGAGGAG others(11): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0281 | 1 | 334 | 0.0030 | 18 | c.830 others(37): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4755658 | A | AGTAAGGA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0049a0001c0002t0012a0001c0002t0159 | a0001c0001t0049g0276a0001c0002t0012g0171a0001c0002t0012g0194others(3): Show | 6 | 334 | 0.0180 | 18 | c.830 others(37): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK1_chr9_127861486_127882675 | 127865990 | A | AGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 NA18990.hp2 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0080a0001c0001t0001g0081others(1): Show | 4 | 426 | 0.0094 | 18 | c.*20 others(29): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 495 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728998 | C | CACACATA others(11): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18939.hp1 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0134a0001c0001t0002g0381a0001c0001t0003g0035others(2): Show | 5 | 462 | 0.0108 | 18 | c.152 others(35): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65148140 | G | GGGGCGAG others(11): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 300 | 0.0033 | 18 | c.-26 others(27): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 62 | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65148157 | G | GAGGGCGA others(11): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0074 | 1 | 300 | 0.0033 | 18 | c.-25 others(27): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 45 | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65172063 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03239.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0002t0001others(1): Show | a0001c0001t0001g0067a0001c0001t0019g0266a0001c0002t0001g0033others(1): Show | 4 | 300 | 0.0133 | 18 | c.146 others(37): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65172103 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0167 | 1 | 300 | 0.0033 | 18 | c.146 others(37): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77357992 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 284 | 0.0035 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02071.hp1 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0048a0001c0001t0001g0067others(3): Show | 6 | 284 | 0.0211 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01175.hp2 others(29): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0078a0001c0001t0001g0108a0001c0001t0001g0198others(29): Show | 32 | 284 | 0.1127 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0219 | 1 | 284 | 0.0035 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0239 | 1 | 284 | 0.0035 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00609.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0258a0001c0001t0003g0152a0001c0001t0003g0154others(37): Show | 40 | 284 | 0.1409 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77367569 | A | ATGTTATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0141 | 1 | 284 | 0.0035 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77367579 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02965.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002a0002c0002t0013 | a0001c0001t0004g0093a0002c0002t0002g0274a0002c0002t0013g0094 | 3 | 284 | 0.0106 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367854 | A | AACATATG others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02896.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0258a0001c0001t0003g0167a0001c0001t0003g0169others(7): Show | 10 | 284 | 0.0352 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77367854 | A | AACATATG others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0143 | 1 | 284 | 0.0035 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77367854 | A | AATATATG others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01928.hp2 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0036a0001c0001t0004g0022a0001c0001t0004g0029others(5): Show | 8 | 284 | 0.0282 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368237 | A | ATATATAA others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01928.hp2 HG01934.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0036a0001c0001t0004g0022a0001c0001t0004g0029others(8): Show | 11 | 284 | 0.0387 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368245 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01515.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0046a0001c0001t0003g0147a0001c0001t0003g0168others(1): Show | 4 | 284 | 0.0141 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77368284 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 284 | 0.0035 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77391495 | G | GTATGTGT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140 | 1 | 284 | 0.0035 | 18 | c.892 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77391495 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0213 | 2 | 284 | 0.0070 | 18 | c.892 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77475195 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 284 | 0.0035 | 18 | c.106 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18946.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0003 | a0001c0001t0001g0018a0001c0007t0003g0181 | 2 | 316 | 0.0063 | 18 | c.499 others(35): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AK9_chr6_109487855_109696202 | 109636750 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG01496.hp1 others(28): Show |
a0002a0003a0005others(5): Show | a0002c0001a0002c0025a0003c0003others(6): Show | a0002c0001t0001a0002c0001t0002a0002c0025t0002others(7): Show | a0002c0001t0001g0289a0002c0001t0002g0002a0002c0001t0002g0300others(27): Show | 31 | 378 | 0.0820 | 18 | c.934 others(35): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 10/40 | chr6 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109695585 | C | CACACACA others(11): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 NA18992.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0257a0005c0005t0001g0263 | 2 | 378 | 0.0053 | 18 | c.-44 others(29): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 4384 | chr6 | TogoVar | ||||||
AKAP10_chr17_19899302_19982828 | 19920855 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 278 | 0.0036 | 18 | c.175 others(35): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 11/14 | chr17 | TogoVar | ||||||
AKAP11_chr13_42267152_42328261 | 42319906 | G | GGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0068 | a0001c0001t0067g0021a0001c0001t0068g0002 | 2 | 378 | 0.0053 | 18 | c.*70 others(27): Show |
AKAP11 | ENSG00000023516.9 | transcript | ENST00000025301.4 | protein_coding | 13/13 | 723 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
AKAP12_chr6_151234967_151363559 | 151285384 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0007 | a0007c0010 | a0007c0010t0017 | a0007c0010t0017g0122 | 1 | 316 | 0.0032 | 18 | c.163 others(37): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151312793 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02451.hp2 |
a0002a0005 | a0002c0005a0005c0006 | a0002c0005t0002a0005c0006t0001 | a0002c0005t0002g0233a0005c0006t0001g0184 | 2 | 316 | 0.0063 | 18 | c.319 others(35): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85498197 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03492.hp1 HG04115.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0045others(1): Show | a0001c0002t0053a0001c0004t0001a0001c0045t0068others(1): Show | a0001c0002t0053g0038a0001c0004t0001g0023a0001c0004t0001g0137others(2): Show | 5 | 314 | 0.0159 | 18 | c.33+ others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85498199 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0016 | a0003c0016t0003 | a0003c0016t0003g0011 | 1 | 314 | 0.0032 | 18 | c.33+ others(35): 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(11): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18956.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0019a0002c0001t0002 | a0001c0002t0019g0071a0002c0001t0002g0153 | 2 | 314 | 0.0064 | 18 | c.34- others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85546321 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0012 | 1 | 314 | 0.0032 | 18 | c.662 others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85567941 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0026 | a0026c0060 | a0026c0060t0011 | a0026c0060t0011g0206 | 1 | 314 | 0.0032 | 18 | c.663 others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85601608 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03688.hp2 HG03704.hp1 others(1): Show |
a0005a0006a0022 | a0005c0005a0006c0033a0022c0064 | a0005c0005t0004a0006c0033t0005a0022c0064t0005 | a0005c0005t0004g0288a0005c0005t0004g0290a0006c0033t0005g0229others(1): Show | 4 | 314 | 0.0127 | 18 | c.416 others(39): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85630234 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0004a0001c0012a0002c0001others(5): Show | a0001c0004t0001a0001c0004t0023a0001c0012t0001others(7): Show | a0001c0004t0001g0024a0001c0004t0023g0046a0001c0012t0001g0292others(8): Show | 11 | 314 | 0.0350 | 18 | c.416 others(37): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85650755 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG04115.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0022 | a0001c0004t0001g0137a0001c0004t0022g0295a0001c0004t0022g0297 | 3 | 314 | 0.0096 | 18 | c.437 others(37): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1587847 | T | TCCCCCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 151 | 0.0066 | 18 | c.-39 others(29): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3756 | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1588054 | C | CTCCTTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 151 | 0.0066 | 18 | c.-37 others(29): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3549 | chrX | TogoVar | ||||||
AKAP1_chr17_57080246_57126344 | 57119830 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00738.hp2 others(28): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0023others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(8): Show | a0001c0001t0001g0093a0001c0001t0001g0112a0001c0001t0001g0120others(28): Show | 31 | 396 | 0.0783 | 18 | c.263 others(35): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AKAP3_chr12_4610518_4654051 | 4624809 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18943.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0064a0004c0005t0001g0084 | 2 | 418 | 0.0048 | 18 | c.240 others(37): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar |