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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG5_chr2_43807472_43843839 | 43813674 | G | GT | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG00741.hp2 others(11): Show |
a0001a0003a0010 | a0001c0001a0001c0010a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0010t0004others(2): Show | a0001c0001t0003g0208 a0001c0001t0004g0021 a0001c0001t0004g0065 others(10): Show |
14 | 328 | 0.0427 | 1 | c.176 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43813697 | G | GT | intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0062 a0001c0001t0001g0207 a0001c0001t0001g0230 others(4): Show |
7 | 246 | 0.0285 | 1 | c.176 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43813709 | G | GT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00642.hp1 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0016t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(53): Show |
61 | 223 | 0.2735 | 1 | c.176 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43815910 | G | GA | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0052 a0001c0001t0001g0236 a0001c0001t0007g0108 others(10): Show |
13 | 198 | 0.0657 | 1 | c.165 others(10): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43822477 | G | GC | intron_variant | MODIFIER | HG01243.hp1 HG01993.hp1 HG02145.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0002c0002t0002a0005c0006t0006others(1): Show | a0001c0001t0001g0210 a0002c0002t0002g0093 a0002c0002t0002g0195 others(3): Show |
7 | 297 | 0.0236 | 1 | c.146 others(18): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43822479 | C | CG | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01167.hp2 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0028 others(40): Show |
54 | 327 | 0.1651 | 1 | c.146 others(18): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43824434 | T | TA | splice_region_variant others(1): Show |
LOW | NA18950.hp2 NA18991.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0097 a0001c0001t0001g0140 |
4 | 328 | 0.0122 | 1 | c.905 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43826166 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG01361.hp1 HG01884.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0009a0006c0005 | a0001c0001t0001a0002c0009t0002a0006c0005t0002others(1): Show | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0230 others(5): Show |
9 | 326 | 0.0276 | 1 | c.774 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43827325 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(35): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0045 a0001c0001t0001g0094 a0001c0001t0001g0101 others(32): Show |
38 | 300 | 0.1267 | 1 | c.634 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828472 | C | CA | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01192.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0003g0072 others(23): Show |
28 | 162 | 0.1728 | 1 | c.502 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828858 | C | CG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(176): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(132): Show |
179 | 328 | 0.5457 | 1 | c.502 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43836246 | A | AT | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0231 a0002c0002t0002g0005 |
5 | 328 | 0.0152 | 1 | c.265 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43837035 | G | GA | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0139 a0002c0002t0002g0026 a0002c0002t0002g0164 others(2): Show |
6 | 191 | 0.0314 | 1 | c.265 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43839403 | C | CT | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01070.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 others(7): Show |
10 | 13 | 0.7692 | 1 | c.-72 others(5): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43842779 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(154): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0010a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(111): Show |
157 | 328 | 0.4787 | 1 | c.-41 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3941 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43836246 | A | AT | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG06807.hp2 others(1): Show |
a0003 | a0003c0011 | a0003c0011t0012a0003c0011t0091 | a0003c0011t0012g0001 a0003c0011t0012g0061 a0003c0011t0091g0001 |
4 | 316 | 0.0127 | 1 | c.-28 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2724 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43837035 | G | GA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02622.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0002a0003c0017 | a0001c0001t0001a0003c0002t0021a0003c0017t0007 | a0001c0001t0001g0048 a0003c0002t0021g0149 a0003c0002t0021g0150 others(2): Show |
6 | 183 | 0.0328 | 1 | c.-20 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1935 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43839403 | C | CT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01070.hp2 others(6): Show |
a0001a0003a0004 | a0001c0008a0003c0002a0003c0014others(1): Show | a0001c0008t0008a0003c0002t0002a0003c0002t0004others(5): Show | a0001c0008t0008g0274 a0003c0002t0002g0275 a0003c0002t0002g0282 others(6): Show |
9 | 10 | 0.9000 | 1 | c.63+ others(7): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43842779 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(146): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0008a0003c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(135): Show |
149 | 316 | 0.4715 | 1 | c.64- others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43845121 | A | AT | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01123.hp2 others(14): Show |
a0001a0005a0013 | a0001c0001a0001c0008a0005c0007others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0003g0130 a0001c0001t0007g0142 a0001c0001t0011g0011 others(12): Show |
17 | 301 | 0.0565 | 1 | c.165 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43847750 | G | GT | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01099.hp1 others(4): Show |
a0003 | a0003c0002a0003c0017 | a0003c0002t0018a0003c0002t0021a0003c0017t0007 | a0003c0002t0018g0015 a0003c0002t0021g0149 a0003c0002t0021g0150 others(2): Show |
7 | 316 | 0.0222 | 1 | c.322 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43847927 | A | AT | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02486.hp1 others(9): Show |
a0007a0009a0012 | a0007c0009a0007c0020a0009c0012others(1): Show | a0007c0009t0022a0007c0009t0028a0007c0009t0049others(4): Show | a0007c0009t0022g0005 a0007c0009t0022g0032 a0007c0009t0028g0033 others(8): Show |
12 | 316 | 0.0380 | 1 | c.322 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43849021 | T | TA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01928.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0003others(5): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0033others(16): Show | a0001c0001t0003g0075 a0001c0001t0003g0111 a0001c0001t0011g0123 others(18): Show |
23 | 273 | 0.0842 | 1 | c.323 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43850909 | C | CA | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0015a0001c0001t0056a0001c0008t0051others(4): Show | a0001c0001t0015g0065 a0001c0001t0056g0092 a0001c0008t0051g0141 others(4): Show |
7 | 310 | 0.0226 | 1 | c.323 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43853541 | T | TA | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 1 | c.964 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43854626 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(156): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(64): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(144): Show |
159 | 298 | 0.5336 | 1 | c.964 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43854640 | A | AG | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG03098.hp1 others(2): Show |
a0009a0012 | a0009c0012a0012c0031 | a0009c0012t0023a0009c0012t0072a0012c0031t0045 | a0009c0012t0023g0026 a0009c0012t0023g0027 a0009c0012t0023g0028 others(2): Show |
5 | 316 | 0.0158 | 1 | c.964 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43858741 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(144): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0008a0003c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(54): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(135): Show |
147 | 316 | 0.4652 | 1 | c.964 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43865636 | T | TG | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 1 | c.965 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43865639 | T | TG | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 1 | c.965 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43867347 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(193): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0008a0003c0002others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(81): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(178): Show |
196 | 315 | 0.6222 | 1 | c.965 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43873189 | A | AT | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG01978.hp2 others(20): Show |
a0002a0003a0006others(2): Show | a0002c0003a0002c0004a0003c0002others(5): Show | a0002c0003t0012a0002c0003t0039a0002c0003t0090others(12): Show | a0002c0003t0012g0147 a0002c0003t0039g0170 a0002c0003t0090g0035 others(19): Show |
23 | 277 | 0.0830 | 1 | c.121 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43874398 | A | AT | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00438.hp2 HG00597.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0024others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(33): Show | a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0100 others(63): Show |
73 | 316 | 0.2310 | 1 | c.141 others(14): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43874510 | G | GC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp1 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(42): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0070 others(81): Show |
90 | 182 | 0.4945 | 1 | c.148 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43874726 | T | TA | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02809.hp2 others(4): Show |
a0003a0007a0014 | a0003c0002a0003c0010a0007c0020others(1): Show | a0003c0002t0042a0003c0002t0093a0003c0002t0095others(3): Show | a0003c0002t0042g0016 a0003c0002t0093g0161 a0003c0002t0095g0242 others(3): Show |
7 | 316 | 0.0222 | 1 | c.148 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43880166 | A | AT | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02572.hp1 others(8): Show |
a0001a0003a0017 | a0001c0001a0003c0002a0017c0019 | a0001c0001t0011a0001c0001t0035a0003c0002t0075others(1): Show | a0001c0001t0011g0011 a0001c0001t0011g0012 a0001c0001t0011g0123 others(6): Show |
11 | 316 | 0.0348 | 1 | c.*22 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2260 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43880173 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(36): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0048 others(77): Show |
83 | 267 | 0.3109 | 1 | c.*22 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43881707 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp1 others(93): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0002c0003others(15): Show | a0001c0001t0007a0001c0001t0015a0001c0001t0017others(45): Show | a0001c0001t0007g0010 a0001c0001t0007g0057 a0001c0001t0007g0089 others(88): Show |
96 | 294 | 0.3265 | 1 | c.*38 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 3813 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43885063 | G | GT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(112): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0002c0003others(12): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(103): Show |
115 | 300 | 0.3833 | 1 | c.*71 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2076 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02602.hp1 HG02809.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0067a0002c0003t0090a0002c0003t0107others(3): Show | a0001c0001t0067g0112 a0002c0003t0090g0035 a0002c0003t0107g0186 others(3): Show |
6 | 123 | 0.0488 | 1 | c.*92 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111977069 | A | AG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(8): Show |
43 | 422 | 0.1019 | 1 | c.-19 others(12): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1956 | chr3 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111989805 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0034 others(11): Show |
77 | 419 | 0.1838 | 1 | c.577 others(9): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111992886 | G | GA | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 a0001c0001t0005g0047 a0001c0001t0005g0048 |
5 | 422 | 0.0118 | 1 | c.*11 others(6): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 5/5 | 1172 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD11_chr7_73731094_73743802 | 73731884 | G | GT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01175.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(4): Show |
43 | 416 | 0.1034 | 1 | c.*46 others(12): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 4209 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73732190 | G | GT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(6): Show |
87 | 419 | 0.2076 | 1 | c.*43 others(12): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 3903 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73739743 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(152): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(7): Show |
155 | 416 | 0.3726 | 1 | c.-97 others(10): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 942 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73739744 | A | AT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01081.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(4): Show |
53 | 227 | 0.2335 | 1 | c.-97 others(10): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 943 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73739767 | T | TA | upstream_gene_variant | MODIFIER | HG02523.hp2 HG04184.hp2 NA18943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 5 | 392 | 0.0128 | 1 | c.-99 others(10): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 966 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73740078 | T | TA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG02129.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0002t0002g0002 |
11 | 424 | 0.0259 | 1 | c.-13 others(12): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 1277 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73741472 | A | AT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0002t0002g0002 |
9 | 421 | 0.0214 | 1 | c.-27 others(12): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 2671 | chr7 | TogoVar |