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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASH2L_chr8_38100529_38145080 | 38107868 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02132.hp2 NA18944.hp2 NA18960.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(2): Show |
5 | 83 | 0.0602 | -12 | c.401 others(27): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38107894 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG02896.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 |
3 | 328 | 0.0091 | -12 | c.401 others(27): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38121333 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0124 a0001c0001t0001g0189 a0001c0003t0001g0138 others(3): Show |
6 | 66 | 0.0909 | -12 | c.116 others(29): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50074860 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 26 | 0.0385 | -12 | c.559 others(29): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33044261 | CCCATCCA others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002 | a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0002t0002g0099 |
3 | 115 | 0.0261 | -12 | c.988 others(31): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33124950 | AGTTCACA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(112): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0033 others(111): Show |
115 | 238 | 0.4832 | -12 | c.709 others(31): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33161857 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03471.hp1 HG03834.hp2 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0021a0002c0003t0002 | a0001c0001t0003g0032 a0001c0001t0021g0030 a0002c0003t0002g0178 |
3 | 80 | 0.0375 | -12 | c.709 others(31): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33233514 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00741.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0003g0053 a0001c0001t0003g0065 a0001c0001t0003g0076 others(26): Show |
29 | 52 | 0.5577 | -12 | c.708 others(31): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33233547 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 238 | 0.0042 | -12 | c.708 others(31): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33268341 | TCATCCAT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01358.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0003g0037 a0001c0001t0003g0046 a0001c0001t0003g0052 others(31): Show |
34 | 70 | 0.4857 | -12 | c.708 others(31): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33297823 | AAAATAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp2 NA18980.hp1 NA18999.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0189 a0002c0003t0002g0186 a0002c0003t0002g0190 |
3 | 76 | 0.0395 | -12 | c.-57 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 4529 | chr17 | TogoVar | |||||||
ASIC4_chr2_219509482_219543772 | 219514470 | AAGGAGAC others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0152 | 1 | 370 | 0.0027 | -12 | c.-24 others(21): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/10 | 237 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC5_chr4_155824729_155871277 | 155825297 | TACACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp2 NA18954.hp2 NA18974.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0101 others(3): Show |
6 | 58 | 0.1034 | -12 | c.*45 others(23): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 4431 | chr4 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155827730 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 NA19074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0002 a0001c0001t0002g0081 a0001c0001t0005g0033 |
4 | 163 | 0.0245 | -12 | c.*21 others(23): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 1998 | chr4 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155829627 | TATATATA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0035 others(8): Show |
32 | 332 | 0.0964 | -12 | c.*21 others(21): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 101 | chr4 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155836986 | TACTCTGA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01167.hp2 others(39): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0083 a0001c0002t0001g0056 a0001c0002t0003g0009 others(23): Show |
42 | 332 | 0.1265 | -12 | c.106 others(29): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 7/9 | chr4 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34269946 | TAAAAAAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01106.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(20): Show |
24 | 55 | 0.4364 | -12 | c.*78 others(21): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66074704 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(18): Show |
39 | 303 | 0.1287 | -12 | c.-11 others(23): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1114 | chr7 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66074720 | CTTTCTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 140 | 0.0071 | -12 | c.-11 others(23): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1098 | chr7 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66074724 | CTTTCTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01934.hp1 HG02523.hp1 others(12): Show |
a0001a0006 | a0001c0002a0001c0006a0006c0014 | a0001c0002t0001a0001c0006t0001a0006c0014t0001 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 others(7): Show |
15 | 292 | 0.0514 | -12 | c.-11 others(23): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1094 | chr7 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1423743 | TCCATCCA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0012others(22): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(121): Show |
126 | 183 | 0.6885 | -12 | c.106 others(31): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1424067 | CATCCACT others(5): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0034 | a0005c0034t0001 | a0005c0034t0001g0113 | 1 | 183 | 0.0055 | -12 | c.106 others(31): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1628917 | CGTTTCTC others(5): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 220 | 0.0045 | -12 | c.444 others(27): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4/8 | chrX | TogoVar | |||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0061 a0001c0001t0002g0009 a0001c0001t0002g0036 others(2): Show |
13 | 94 | 0.1383 | -12 | c.-93 others(27): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3485882 | AGAGAGCC others(5): Show |
A | intron_variant | MODIFIER | NA18945.hp1 NA18948.hp1 NA18960.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 others(3): Show |
6 | 448 | 0.0134 | -12 | c.526 others(29): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3495546 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0079 others(213): Show |
244 | 446 | 0.5471 | -12 | c.744 others(29): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50508698 | CGTGTGTG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0020 | 1 | 92 | 0.0109 | -12 | c.*30 others(23): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104083294 | CTCCAGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0205 | 1 | 366 | 0.0027 | -12 | c.-24 others(23): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 2405 | chr14 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104111223 | ATGTATGC others(5): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0205 | 1 | 366 | 0.0027 | -12 | c.152 others(29): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26434157 | GGGACGCA others(5): Show |
G | disruptive_inframe_deletion | MODERATE | NA19089.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0172 | 1 | 426 | 0.0023 | -12 | c.543 others(19): Show |
p.Asp others(13): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/4 | 994/3370 | 543/1110 | 181/369 | chr22 | TogoVar | |||
ASPH_chr8_61495556_61719592 | 61561087 | GGAGGGAG others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0019a0001c0001t0030others(3): Show | a0001c0001t0001g0193 a0001c0001t0019g0003 a0001c0001t0030g0196 others(10): Show |
13 | 255 | 0.0510 | -12 | c.143 others(31): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61574523 | AACGGATG others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(91): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0038 others(91): Show |
94 | 256 | 0.3672 | -12 | c.114 others(31): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 16/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01074.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 others(42): Show |
45 | 57 | 0.7895 | -12 | c.103 others(31): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197132372 | CAAATAAG others(5): Show |
C | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0173 | 1 | 294 | 0.0034 | -12 | c.242 others(27): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69962199 | GACACACA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 18 | 0.0556 | -12 | c.-77 others(21): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 569 | chr2 | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69965448 | AAAAAACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00735.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
34 | 355 | 0.0958 | -12 | c.-40 others(23): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3818 | chr2 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81985021 | CCACACCA others(5): Show |
C | intron_variant | MODIFIER | NA18942.hp1 NA19003.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 a0002c0002t0001g0220 |
2 | 364 | 0.0055 | -12 | c.274 others(27): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82001990 | TTTTTTCT others(5): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 364 | 0.0027 | -12 | c.933 others(29): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | chr17 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82018466 | AGCCCCCG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03139.hp2 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0167 |
3 | 364 | 0.0082 | -12 | c.*11 others(23): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 1061 | chr17 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82019838 | GCCCGCAC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp2 HG03471.hp1 |
a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0024 | 2 | 364 | 0.0055 | -12 | c.*25 others(23): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 2433 | chr17 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03225.hp2 NA18612.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0018 a0001c0001t0001g0057 a0001c0001t0001g0081 others(2): Show |
5 | 6 | 0.8333 | -12 | c.491 others(29): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00673.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0017 others(17): Show |
20 | 96 | 0.2083 | -12 | c.492 others(31): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375470 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02523.hp1 NA19011.hp2 NA19060.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0023a0001c0002t0003 | a0001c0001t0003g0162 a0001c0001t0003g0169 a0001c0001t0023g0138 others(1): Show |
4 | 368 | 0.0109 | -12 | c.492 others(31): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62395759 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02027.hp2 HG03710.hp2 NA18612.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 a0001c0002t0003g0287 a0001c0002t0003g0288 others(15): Show |
19 | 147 | 0.1293 | -12 | c.*34 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2348 | chr11 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130440692 | TAAAATAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03098.hp2 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0170 a0007c0011t0001g0168 |
2 | 369 | 0.0054 | -12 | c.-43 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 4268 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130479281 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 362 | 0.0028 | -12 | c.689 others(27): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130480357 | GAACCTAA others(5): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 372 | 0.0027 | -12 | c.774 others(25): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 10/14 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130501278 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01168.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0066 others(24): Show |
28 | 62 | 0.4516 | -12 | c.*25 others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5 | chr9 | TogoVar | |||||||
ASTE1_chr3_131008875_131031825 | 131028552 | TTTTTTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00741.hp1 others(20): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0002 | a0001c0002t0002g0006 a0002c0003t0002g0010 |
23 | 281 | 0.0819 | -12 | c.-22 others(23): Show |
ASTE1 | ENSG00000034533.12 | transcript | ENST00000264992.8 | protein_coding | 1728 | chr3 | TogoVar | |||||||
ASTL_chr2_96117818_96143502 | 96120974 | TCAGGGCC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(216): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(64): Show |
219 | 394 | 0.5558 | -12 | c.*28 others(23): Show |
ASTL | ENSG00000188886.4 | transcript | ENST00000342380.3 | protein_coding | 1843 | chr2 | TogoVar |