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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0033a0001c0001t0001g0083a0001c0001t0001g0100others(2): Show | 6 | 340 | 0.0177 | -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 | a0001c0001t0003g0005 | 9 | 340 | 0.0265 | -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 | 432 | 0.0023 | -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 | a0001c0001t0005g0274 | 1 | 432 | 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 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0225others(5): Show | 9 | 432 | 0.0208 | -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 | 182 | 0.0055 | -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 | a0003c0003t0003g0177 | 1 | 182 | 0.0055 | -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 | 182 | 0.0055 | -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 | a0001c0001t0001g0091a0001c0001t0001g0097a0001c0001t0001g0103 | 3 | 182 | 0.0165 | -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 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0032a0001c0001t0001g0105a0001c0001t0001g0106others(6): Show | 9 | 182 | 0.0495 | -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 | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0125others(4): Show | 7 | 182 | 0.0385 | -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 | a0001c0001t0001g0149a0001c0001t0001g0150 | 2 | 182 | 0.0110 | -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 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0001 | a0001c0002t0001g0264a0002c0006t0001g0302a0002c0006t0001g0303others(1): Show | 4 | 330 | 0.0121 | -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 | a0001c0003t0001g0031 | 1 | 330 | 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 |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0052a0001c0001t0001g0053others(11): Show | 14 | 330 | 0.0424 | -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 | 324 | 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 | 324 | 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 | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0018others(64): Show | 68 | 240 | 0.2833 | -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 | a0001c0001t0003g0024a0001c0001t0003g0035a0001c0001t0003g0049others(41): Show | 45 | 240 | 0.1875 | -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 | a0001c0002t0005g0108a0001c0004t0016g0148 | 2 | 240 | 0.0083 | -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 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015others(12): Show | 15 | 240 | 0.0625 | -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 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015others(3): Show | 6 | 240 | 0.0250 | -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 | 418 | 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 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0017others(7): Show | 15 | 334 | 0.0449 | -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 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0004c0008t0002 | a0001c0001t0002g0002a0004c0008t0002g0077 | 3 | 334 | 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 | a0001c0001t0002g0083 | 1 | 334 | 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 | a0001c0001t0002g0084 | 1 | 334 | 0.0030 | -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 | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0095 | 3 | 306 | 0.0098 | -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 | a0001c0001t0003g0001a0001c0001t0003g0005 | 4 | 316 | 0.0127 | -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 | 316 | 0.0032 | -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 |
a0001a0003 | a0001c0002a0003c0014 | a0001c0002t0001a0003c0014t0001 | a0001c0002t0001g0013a0001c0002t0001g0014a0001c0002t0001g0020others(5): Show | 13 | 316 | 0.0411 | -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 | a0002c0002t0002g0156 | 1 | 223 | 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 |
a0001a0002a0007others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0040others(64): Show | 67 | 223 | 0.3005 | -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(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0016others(70): Show | 74 | 223 | 0.3318 | -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 | a0001c0001t0001g0033a0001c0001t0001g0104a0001c0001t0002g0107others(2): Show | 6 | 340 | 0.0177 | -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 | a0001c0001t0003g0005 | 9 | 340 | 0.0265 | -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 | a0001c0001t0002g0348a0001c0001t0011g0277a0001c0001t0034g0278 | 3 | 450 | 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 | a0001c0001t0001g0004a0001c0001t0001g0015 | 3 | 372 | 0.0081 | -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 | 372 | 0.0161 | -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 | a0001c0001t0002g0187a0001c0001t0002g0188a0001c0001t0002g0190others(13): Show | 24 | 428 | 0.0561 | -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 | a0001c0001t0001g0208a0001c0001t0002g0005a0001c0001t0002g0006others(34): Show | 64 | 428 | 0.1495 | -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 | 258 | 0.0039 | -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 | 258 | 0.0039 | -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 | 258 | 0.0039 | -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 | a0001c0001t0001g0082a0001c0001t0019g0002 | 2 | 258 | 0.0078 | -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 | a0001c0001t0009g0012a0001c0001t0010g0013a0001c0001t0010g0014 | 3 | 258 | 0.0116 | -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 | a0001c0001t0015g0008a0001c0002t0002g0059a0001c0006t0014g0003 | 3 | 258 | 0.0116 | -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 | 258 | 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 | a0001c0001t0001g0159 | 1 | 258 | 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 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(1): Show | 25 | 464 | 0.0539 | -10 | c.-77 others(19): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 569 | chr2 | TogoVar |