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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0062 others(1): Show |
6 | 89 | 0.0674 | -10 | c.220 others(25): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASDURF_chr2_189656459_189671401 | 189665598 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 9 | 283 | 0.0318 | -10 | c.220 others(25): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7097642 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 362 | 0.0028 | -10 | c.*39 others(21): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3683 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7111303 | GAGGATAT others(3): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0270 | 1 | 430 | 0.0023 | -10 | c.125 others(27): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7118417 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02165.hp2 NA18612.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0223 others(5): Show |
9 | 338 | 0.0266 | -10 | c.-38 others(21): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3596 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332449 | AAAGTGTA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007 | 1 | 179 | 0.0056 | -10 | c.*52 others(21): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2818 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332454 | GTATGTGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0176 | 1 | 177 | 0.0056 | -10 | c.*51 others(21): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2813 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332458 | GTGTATAT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0015 | a0001c0015t0014 | a0001c0015t0014g0008 | 1 | 73 | 0.0137 | -10 | c.*51 others(21): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2809 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332460 | GTATATAT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0102 |
3 | 38 | 0.0789 | -10 | c.*51 others(21): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2807 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155357078 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG02523.hp1 HG02683.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0030 a0001c0001t0001g0104 a0001c0001t0001g0105 others(6): Show |
9 | 34 | 0.2647 | -10 | c.705 others(27): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 15/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01109.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0021a0005c0005t0002 | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0125 others(4): Show |
7 | 29 | 0.2414 | -10 | c.600 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155546945 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02083.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0140 |
2 | 123 | 0.0163 | -10 | c.-10 others(31): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38107868 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG03471.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0257 a0003c0006t0001g0300 a0003c0006t0001g0301 others(1): Show |
4 | 82 | 0.0488 | -10 | c.401 others(25): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38107896 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 | 1 | 328 | 0.0030 | -10 | c.401 others(25): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38121333 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00741.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(11): Show |
14 | 74 | 0.1892 | -10 | c.116 others(27): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50076304 | TAAAAATA others(3): Show |
T | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165 | 1 | 322 | 0.0031 | -10 | c.559 others(25): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50084351 | CTATTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 322 | 0.0031 | -10 | c.*27 others(21): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 741 | chr12 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33032440 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 others(64): Show |
68 | 126 | 0.5397 | -10 | c.988 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33192384 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0003g0026 a0001c0001t0003g0037 a0001c0001t0003g0049 others(41): Show |
45 | 69 | 0.6522 | -10 | c.709 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232446 | AATGGTAT others(3): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0004t0016 | a0001c0002t0005g0108 a0001c0004t0016g0149 |
2 | 90 | 0.0222 | -10 | c.708 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33233514 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02145.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(8): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(12): Show |
15 | 38 | 0.3947 | -10 | c.708 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33288715 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(3): Show |
6 | 45 | 0.1333 | -10 | c.708 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC3_chr7_151043531_151057754 | 151056818 | GCCAGGCA others(3): Show |
G | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 416 | 0.0024 | -10 | c.*41 others(21): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 4065 | chr7 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155825297 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01516.hp1 HG01517.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0018 others(7): Show |
15 | 67 | 0.2239 | -10 | c.*45 others(21): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 4431 | chr4 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155829629 | TATATATA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02486.hp2 NA18950.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0003c0008t0002 | a0001c0001t0002g0002 a0003c0008t0002g0075 |
3 | 332 | 0.0090 | -10 | c.*21 others(19): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 99 | chr4 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155829641 | TATATATA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 332 | 0.0030 | -10 | c.*20 others(19): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 87 | chr4 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155839348 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 9 | 0.1111 | -10 | c.101 others(27): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 6/9 | chr4 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34269946 | TAAAAAAA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18963.hp1 NA18966.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0093 |
3 | 34 | 0.0882 | -10 | c.*78 others(19): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66074720 | CTTTCTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG03654.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0005 |
4 | 143 | 0.0280 | -10 | c.-11 others(21): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1098 | chr7 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66074724 | CTTTCTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 278 | 0.0036 | -10 | c.-11 others(21): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1094 | chr7 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66087243 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01934.hp1 HG02523.hp1 others(10): Show |
a0001a0006 | a0001c0002a0006c0014 | a0001c0002t0001a0006c0014t0001 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 others(5): Show |
13 | 75 | 0.1733 | -10 | c.603 others(23): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1612959 | TTTCTTTC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0155 | 1 | 221 | 0.0045 | -10 | c.-22 others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2099 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1627633 | CGAAATGA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(64): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0040 others(64): Show |
67 | 149 | 0.4497 | -10 | c.375 others(23): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1628942 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(69): Show |
73 | 221 | 0.3303 | -10 | c.444 others(25): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0011t0001 | a0001c0001t0001g0031 a0001c0001t0001g0073 a0001c0001t0002g0078 others(2): Show |
6 | 87 | 0.0690 | -10 | c.-93 others(25): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665598 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 9 | 285 | 0.0316 | -10 | c.-93 others(25): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3480492 | ATAAGCCA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0034 | a0001c0001t0002g0348 a0001c0001t0011g0277 a0001c0001t0034g0278 |
3 | 448 | 0.0067 | -10 | c.237 others(27): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50508698 | CGTGTGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0015 |
3 | 94 | 0.0319 | -10 | c.*30 others(21): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | |||||||
ASPDH_chr19_50506603_50518913 | 50510745 | GCCTCCCC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02155.hp1 NA19004.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 370 | 0.0162 | -10 | c.*97 others(19): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 857 | chr19 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26435710 | TAAAAGAA others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01243.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 others(13): Show |
24 | 78 | 0.3077 | -10 | c.886 others(27): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438600 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0197 a0001c0001t0002g0005 a0001c0001t0002g0006 others(33): Show |
64 | 410 | 0.1561 | -10 | c.887 others(27): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61550477 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027 | 1 | 182 | 0.0055 | -10 | c.162 others(29): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 20/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61590550 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0179 | 1 | 66 | 0.0152 | -10 | c.977 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61603191 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 117 | 0.0085 | -10 | c.976 others(29): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61621331 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0083 a0001c0001t0019g0003 |
2 | 153 | 0.0131 | -10 | c.935 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61628323 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0012 a0001c0001t0010g0013 a0001c0001t0010g0014 |
3 | 58 | 0.0517 | -10 | c.934 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 13/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0015a0001c0002t0002a0001c0006t0014 | a0001c0001t0015g0009 a0001c0002t0002g0059 a0001c0006t0014g0004 |
3 | 15 | 0.2000 | -10 | c.103 others(29): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61706025 | TACTATTG others(3): Show |
T | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 256 | 0.0039 | -10 | c.103 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61706423 | AAAAAAAG others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 254 | 0.0039 | -10 | c.103 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69962199 | GACACACA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01943.hp2 HG01978.hp1 others(22): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
25 | 42 | 0.5952 | -10 | c.-77 others(19): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 569 | chr2 | TogoVar |