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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO4_chr1_35803016_35862890 | 35818650 | AAAGAAAG others(5): Show |
A | intron_variant | MODIFIER | HG03491.hp2 NA19074.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0077 a0001c0001t0002g0133 a0001c0001t0004g0054 |
3 | 169 | 0.0178 | -12 | c.185 others(29): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35818658 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01928.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(3): Show |
6 | 78 | 0.0769 | -12 | c.185 others(29): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35841811 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0025 | a0001c0001t0015g0072 a0001c0001t0015g0073 a0001c0001t0025g0071 |
3 | 26 | 0.1154 | -12 | c.217 others(27): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35858440 | CTATATTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 264 | 0.0038 | -12 | c.*48 others(23): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 551 | chr1 | TogoVar | |||||||
AGO4_chr1_35803016_35862890 | 35858442 | ATATTTAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(5): Show |
8 | 55 | 0.1455 | -12 | c.*48 others(23): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 553 | chr1 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43905155 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01069.hp1 others(59): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0310 others(58): Show |
62 | 133 | 0.4662 | -12 | c.-49 others(29): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43926636 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0032 | a0001c0001t0019g0323 a0001c0001t0019g0330 a0001c0001t0032g0324 others(1): Show |
4 | 67 | 0.0597 | -12 | c.-49 others(31): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43990906 | CACATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0024a0001c0001t0034a0001c0001t0043others(1): Show | a0001c0001t0024g0106 a0001c0001t0024g0107 a0001c0001t0034g0105 others(2): Show |
5 | 336 | 0.0149 | -12 | c.*85 others(23): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3315 | chr21 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43990937 | GTGTATGT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0159 | 1 | 232 | 0.0043 | -12 | c.*85 others(23): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3346 | chr21 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43990978 | TATATATA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0220 | 1 | 340 | 0.0029 | -12 | c.*85 others(23): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3387 | chr21 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161170469 | GCGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01257.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0006g0037 others(18): Show |
22 | 227 | 0.0969 | -12 | c.179 others(29): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219868 | TAGATAGG others(5): Show |
T | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0050 | 1 | 258 | 0.0039 | -12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219872 | TAGGCAGG others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012others(2): Show | a0001c0001t0003g0039 a0001c0001t0009g0129 a0001c0001t0012g0167 others(2): Show |
5 | 167 | 0.0299 | -12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219908 | CAGGCAGG others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0197 | 1 | 260 | 0.0038 | -12 | c.178 others(31): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161233109 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp1 HG01516.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0003g0107 a0001c0001t0005g0133 a0001c0001t0006g0061 others(14): Show |
17 | 127 | 0.1339 | -12 | c.-89 others(27): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161240221 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp2 HG02027.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(11): Show | a0001c0001t0006g0061 a0001c0001t0006g0228 a0001c0001t0008g0210 others(18): Show |
21 | 72 | 0.2917 | -12 | c.-89 others(29): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6707320 | AATATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01993.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0146 a0001c0001t0003g0009 others(1): Show |
4 | 43 | 0.0930 | -12 | c.-13 others(23): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 1321 | chr8 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177444617 | TTTTTGTA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(227): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(227): Show |
230 | 256 | 0.8984 | -12 | c.790 others(27): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177470714 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0046 | a0001c0001t0017g0193 a0001c0001t0017g0194 a0001c0001t0046g0195 |
3 | 256 | 0.0117 | -12 | c.110 others(31): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16883337 | CCCTTCCT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0025 others(60): Show |
82 | 456 | 0.1798 | -12 | c.-14 others(23): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1355 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1048767 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 34 | 0.0294 | -12 | c.410 others(27): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG02027.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0097 a0001c0001t0002g0182 a0001c0001t0002g0208 others(4): Show |
7 | 110 | 0.0636 | -12 | c.350 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85599110 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0259 |
2 | 62 | 0.0323 | -12 | c.233 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85630461 | CGATTGAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 others(10): Show |
13 | 86 | 0.1512 | -12 | c.201 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 14/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85668967 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0002g0162 others(1): Show |
4 | 128 | 0.0313 | -12 | c.662 others(27): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85682172 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02630.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0147 a0001c0002t0003g0290 a0001c0002t0003g0291 others(1): Show |
4 | 108 | 0.0370 | -12 | c.158 others(27): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85698679 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 60 | 0.0167 | -12 | c.33- others(27): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85728030 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show |
5 | 130 | 0.0385 | -12 | c.-34 others(31): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35011915 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 121 | 0.0083 | -12 | c.118 others(31): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 11/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35023861 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0009 | 2 | 50 | 0.0400 | -12 | c.963 others(29): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 9/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35028558 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp1 others(28): Show |
a0001a0003a0004others(9): Show | a0001c0001a0003c0006a0003c0012others(11): Show | a0001c0001t0001a0001c0001t0004a0003c0006t0002others(14): Show | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0190 others(27): Show |
31 | 50 | 0.6200 | -12 | c.770 others(29): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35031943 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0021 | a0021c0027 | a0021c0027t0003 | a0021c0027t0003g0185 | 1 | 31 | 0.0323 | -12 | c.769 others(27): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240880574 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01433.hp1 HG02080.hp1 others(24): Show |
a0002a0004 | a0002c0003a0002c0013a0002c0027others(2): Show | a0002c0003t0005a0002c0013t0005a0002c0027t0005others(2): Show | a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(7): Show |
27 | 159 | 0.1698 | -12 | c.*17 others(23): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 a0001c0001t0001g0334 |
2 | 87 | 0.0230 | -12 | c.*58 others(23): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246892301 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02723.hp1 others(1): Show |
a0001a0004a0011 | a0001c0001a0004c0005a0011c0016 | a0001c0001t0014a0004c0005t0005a0011c0016t0001 | a0001c0001t0014g0003 a0004c0005t0005g0005 a0011c0016t0001g0274 others(1): Show |
4 | 65 | 0.0615 | -12 | c.180 others(29): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 14/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246920142 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01891.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 others(1): Show |
4 | 112 | 0.0357 | -12 | c.-7- others(27): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246922961 | CGACAGAG others(5): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 352 | 0.0028 | -12 | c.-7- others(27): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246923420 | AATAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0004a0001c0044 | a0001c0004t0002a0001c0004t0020a0001c0044t0002 | a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 others(3): Show |
6 | 374 | 0.0160 | -12 | c.-7- others(27): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCY_chr20_34275268_34308355 | 34306079 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show |
9 | 76 | 0.1184 | -12 | c.-28 others(23): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 2725 | chr20 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27599179 | ACAGGGCC others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02559.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0001a0001c0007t0005a0002c0003t0001others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0155 others(3): Show |
6 | 165 | 0.0364 | -12 | c.-62 others(31): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27608841 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 43 | 0.0233 | -12 | c.-56 others(23): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4698 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135293394 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 a0001c0001t0002g0170 |
2 | 218 | 0.0092 | -12 | c.348 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135316361 | ACTTTGAG others(5): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0015 | a0001c0015t0010 | a0001c0015t0010g0104 | 1 | 218 | 0.0046 | -12 | c.342 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 26/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135340654 | CATACATA others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0004a0001c0013t0007 | a0001c0001t0004g0051 a0001c0013t0007g0168 |
2 | 108 | 0.0185 | -12 | c.316 others(33): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135361645 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02004.hp1 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0131 others(7): Show |
10 | 36 | 0.2778 | -12 | c.311 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374098 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 215 | 0.0047 | -12 | c.311 others(33): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374100 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 HG03017.hp1 others(4): Show |
a0001a0010 | a0001c0001a0001c0018a0010c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0089 a0001c0001t0003g0029 a0001c0001t0003g0177 others(4): Show |
7 | 189 | 0.0370 | -12 | c.311 others(33): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135388134 | CAGTTAAT others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0013 | a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 others(2): Show |
5 | 218 | 0.0229 | -12 | c.310 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340678 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0222 | 1 | 260 | 0.0038 | -12 | c.-10 others(29): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340682 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01515.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0016 | a0003c0004t0004g0002 a0003c0004t0016g0001 |
4 | 263 | 0.0152 | -12 | c.-10 others(29): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |