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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UFM1_chr13_38344851_38368619 | 38351915 | CTG | C | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0032 | a0001c0001t0003g0006 a0001c0001t0003g0020 a0001c0001t0003g0078 others(3): Show |
14 | 288 | 0.0486 | -2 | c.59+ others(17): Show |
UFM1 | ENSG00000120686.12 | transcript | ENST00000239878.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UFM1_chr13_38344851_38368619 | 38354754 | CAT | C | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0043 others(1): Show |
7 | 288 | 0.0243 | -2 | c.117 others(17): Show |
UFM1 | ENSG00000120686.12 | transcript | ENST00000239878.9 | protein_coding | 3/5 | chr13 | TogoVar | |||||||
UFM1_chr13_38344851_38368619 | 38357077 | CAA | C | intron_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG03239.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 a0001c0001t0005g0047 |
7 | 288 | 0.0243 | -2 | c.118 others(19): Show |
UFM1 | ENSG00000120686.12 | transcript | ENST00000239878.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UFM1_chr13_38344851_38368619 | 38358037 | TTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(51): Show |
135 | 288 | 0.4688 | -2 | c.118 others(15): Show |
UFM1 | ENSG00000120686.12 | transcript | ENST00000239878.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UFM1_chr13_38344851_38368619 | 38363496 | GAA | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(227): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
230 | 288 | 0.7986 | -2 | c.*27 others(13): Show |
UFM1 | ENSG00000120686.12 | transcript | ENST00000239878.9 | protein_coding | 6/6 | 2734 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UFM1_chr13_38344851_38368619 | 38364724 | AAG | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01891.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0020 | a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0017 others(14): Show |
30 | 288 | 0.1042 | -2 | c.*39 others(13): Show |
UFM1 | ENSG00000120686.12 | transcript | ENST00000239878.9 | protein_coding | 1106 | chr13 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185397769 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(163): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(116): Show |
166 | 300 | 0.5533 | -2 | c.*26 others(13): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 1767 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185398140 | TAG | T | downstream_gene_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 a0001c0001t0003g0058 a0001c0001t0003g0061 |
3 | 300 | 0.0100 | -2 | c.*22 others(13): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 1396 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185403976 | AAC | A | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01884.hp1 others(37): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0021a0001c0008t0013 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0014 others(22): Show |
40 | 300 | 0.1333 | -2 | c.119 others(19): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 10/11 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185407017 | CTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01256.hp2 HG01496.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0179 others(9): Show |
14 | 300 | 0.0467 | -2 | c.112 others(19): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185407601 | TAA | T | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01884.hp1 others(42): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0002g0069 a0001c0001t0003g0002 a0001c0001t0003g0006 others(27): Show |
45 | 300 | 0.1500 | -2 | c.112 others(19): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185416600 | CGT | C | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01081.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0041 others(8): Show |
18 | 300 | 0.0600 | -2 | c.334 others(17): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185423813 | TAC | T | intron_variant | MODIFIER | HG01258.hp2 HG02630.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140 a0001c0001t0002g0074 a0001c0001t0002g0075 |
3 | 300 | 0.0100 | -2 | c.4-1 others(15): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185428086 | CAA | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00733.hp2 others(62): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0195 a0001c0001t0002g0049 a0001c0001t0002g0069 others(41): Show |
65 | 300 | 0.2167 | -2 | c.-22 others(13): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 2123 | chr4 | TogoVar | |||||||
UFSP2_chr4_185394537_185430964 | 185428556 | TAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(111): Show |
159 | 300 | 0.5300 | -2 | c.-26 others(13): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 2593 | chr4 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111894652 | CAA | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0011a0001c0001t0018others(5): Show | a0001c0001t0007g0336 a0001c0001t0011g0102 a0001c0001t0011g0105 others(35): Show |
38 | 424 | 0.0896 | -2 | c.-25 others(13): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 2161 | chr9 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111900120 | ATT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(8): Show | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(50): Show |
53 | 424 | 0.1250 | -2 | c.98+ others(17): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGCG_chr9_111891814_111940369 | 111900476 | ATG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(332): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(58): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0191 others(318): Show |
335 | 424 | 0.7901 | -2 | c.98+ others(17): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGCG_chr9_111891814_111940369 | 111911905 | GAT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0003g0007 others(3): Show |
7 | 424 | 0.0165 | -2 | c.99- others(17): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGCG_chr9_111891814_111940369 | 111912021 | TTC | T | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0264 a0001c0001t0004g0281 a0001c0001t0004g0282 others(12): Show |
15 | 424 | 0.0354 | -2 | c.99- others(17): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111912029 | GAT | G | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG02273.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0030a0001c0002t0002others(1): Show | a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0030g0099 others(3): Show |
6 | 424 | 0.0142 | -2 | c.99- others(17): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGCG_chr9_111891814_111940369 | 111913599 | ATT | A | intron_variant | MODIFIER | HG00438.hp1 HG01256.hp2 HG01515.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0195 a0001c0001t0001g0242 a0001c0001t0001g0247 others(27): Show |
32 | 424 | 0.0755 | -2 | c.99- others(15): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGCG_chr9_111891814_111940369 | 111923363 | GTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(73): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0191 a0001c0001t0004g0004 a0001c0001t0004g0012 others(70): Show |
76 | 424 | 0.1793 | -2 | c.343 others(17): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGCG_chr9_111891814_111940369 | 111934079 | TGA | T | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG03239.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0029 | a0001c0001t0011g0102 a0001c0001t0011g0105 a0001c0001t0011g0106 others(7): Show |
10 | 424 | 0.0236 | -2 | c.*10 others(13): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 9/9 | 1084 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UGCG_chr9_111891814_111940369 | 111937942 | AAG | A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01168.hp1 HG03669.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0342 a0001c0004t0021g0343 a0001c0004t0021g0344 others(1): Show |
4 | 424 | 0.0094 | -2 | c.*49 others(13): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 2574 | chr9 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111938233 | ACT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(15): Show | a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0270 others(65): Show |
71 | 424 | 0.1675 | -2 | c.*52 others(13): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 2865 | chr9 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111938995 | CAG | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0094 others(206): Show |
218 | 424 | 0.5142 | -2 | c.*59 others(13): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 3627 | chr9 | TogoVar | |||||||
UGDH_chr4_39493755_39532439 | 39500102 | CAA | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(70): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0018others(16): Show | a0001c0001t0003g0033 a0001c0001t0003g0160 a0001c0001t0003g0168 others(44): Show |
73 | 416 | 0.1755 | -2 | c.*39 others(9): Show |
UGDH | ENSG00000109814.12 | transcript | ENST00000316423.11 | protein_coding | 12/12 | 39 | chr4 | TogoVar | ||||||
UGDH_chr4_39493755_39532439 | 39501276 | ATT | A | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0016a0001c0002t0023others(1): Show | a0001c0001t0023g0218 a0001c0002t0016g0015 a0001c0002t0016g0118 others(3): Show |
8 | 416 | 0.0192 | -2 | c.137 others(21): Show |
UGDH | ENSG00000109814.12 | transcript | ENST00000316423.11 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
UGDH_chr4_39493755_39532439 | 39507942 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(131): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0047a0001c0002t0001a0001c0002t0002others(29): Show | a0001c0001t0047g0252 a0001c0002t0001g0046 a0001c0002t0002g0028 others(91): Show |
134 | 416 | 0.3221 | -2 | c.906 others(17): Show |
UGDH | ENSG00000109814.12 | transcript | ENST00000316423.11 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
UGDH_chr4_39493755_39532439 | 39513531 | CTT | C | intron_variant | MODIFIER | NA18960.hp1 NA18975.hp2 NA18988.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0032others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0088 others(4): Show |
7 | 416 | 0.0168 | -2 | c.264 others(17): Show |
UGDH | ENSG00000109814.12 | transcript | ENST00000316423.11 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
UGDH_chr4_39493755_39532439 | 39521069 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(128): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(29): Show | a0001c0002t0001g0046 a0001c0002t0002g0028 a0001c0002t0002g0029 others(88): Show |
131 | 416 | 0.3149 | -2 | c.162 others(17): Show |
UGDH | ENSG00000109814.12 | transcript | ENST00000316423.11 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
UGDH_chr4_39493755_39532439 | 39531950 | CTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01167.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0014a0001c0002t0007others(10): Show | a0001c0001t0010g0290 a0001c0001t0014g0024 a0001c0002t0007g0012 others(40): Show |
50 | 416 | 0.1202 | -2 | c.-46 others(13): Show |
UGDH | ENSG00000109814.12 | transcript | ENST00000316423.11 | protein_coding | 4512 | chr4 | TogoVar | |||||||
UGGT1_chr2_128086200_128200677 | 128100028 | CCA | C | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01069.hp2 others(36): Show |
a0001a0003a0007others(1): Show | a0001c0003a0001c0005a0003c0006others(2): Show | a0001c0003t0002a0001c0003t0007a0001c0003t0034others(6): Show | a0001c0003t0002g0001 a0001c0003t0002g0159 a0001c0003t0002g0160 others(36): Show |
39 | 332 | 0.1175 | -2 | c.194 others(19): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128108680 | AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(122): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0007others(38): Show | a0001c0001t0001g0154 a0001c0003t0002g0001 a0001c0003t0002g0159 others(122): Show |
125 | 332 | 0.3765 | -2 | c.408 others(17): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 4/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128115483 | TAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(78): Show |
a0001a0003a0007others(3): Show | a0001c0003a0001c0005a0001c0017others(6): Show | a0001c0003t0002a0001c0003t0007a0001c0003t0014others(19): Show | a0001c0003t0002g0001 a0001c0003t0002g0159 a0001c0003t0002g0160 others(78): Show |
81 | 332 | 0.2440 | -2 | c.793 others(17): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128117976 | GTC | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01346.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0007 | a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0007g0229 |
3 | 332 | 0.0090 | -2 | c.872 others(19): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 8/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128125942 | CTT | C | intron_variant | MODIFIER | HG01192.hp1 HG02451.hp2 HG02809.hp2 others(6): Show |
a0001a0006 | a0001c0004a0001c0005a0006c0008 | a0001c0004t0005a0001c0005t0008a0006c0008t0005 | a0001c0004t0005g0123 a0001c0004t0005g0126 a0001c0004t0005g0149 others(6): Show |
9 | 332 | 0.0271 | -2 | c.113 others(21): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 11/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128129397 | ATT | A | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 HG03130.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0026others(1): Show | a0001c0001t0001a0001c0007t0022a0001c0007t0042others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0007t0022g0245 others(5): Show |
8 | 332 | 0.0241 | -2 | c.137 others(19): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 13/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128131233 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(101): Show |
a0001a0009a0012 | a0001c0001a0001c0004a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(101): Show |
104 | 332 | 0.3133 | -2 | c.137 others(21): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 13/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128145523 | CAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp2 others(24): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0054a0001c0003t0002others(7): Show | a0001c0001t0001g0154 a0001c0001t0054g0079 a0001c0003t0002g0187 others(24): Show |
27 | 332 | 0.0813 | -2 | c.185 others(19): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 17/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128150558 | CAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(90): Show |
a0001a0011a0012others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(90): Show |
93 | 332 | 0.2801 | -2 | c.201 others(21): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 18/40 | chr2 | TogoVar | |||||||
UGGT1_chr2_128086200_128200677 | 128154060 | TAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(113): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(33): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(113): Show |
116 | 332 | 0.3494 | -2 | c.213 others(21): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 19/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128169048 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01257.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0013a0001c0001t0053others(9): Show | a0001c0001t0001g0100 a0001c0001t0001g0129 a0001c0001t0013g0036 others(15): Show |
18 | 332 | 0.0542 | -2 | c.292 others(21): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 26/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128175221 | GTA | G | intron_variant | MODIFIER | HG00408.hp2 HG03225.hp2 HG06807.hp2 |
a0002 | a0002c0012a0002c0027 | a0002c0012t0019a0002c0027t0045 | a0002c0012t0019g0248 a0002c0012t0019g0249 a0002c0027t0045g0332 |
3 | 332 | 0.0090 | -2 | c.353 others(19): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 31/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128177551 | GCA | G | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01074.hp1 others(16): Show |
a0001a0006a0008 | a0001c0004a0006c0008a0008c0025 | a0001c0004t0005a0001c0004t0015a0001c0004t0025others(3): Show | a0001c0004t0005g0012 a0001c0004t0005g0026 a0001c0004t0005g0027 others(16): Show |
19 | 332 | 0.0572 | -2 | c.362 others(19): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128193175 | CAA | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(88): Show |
a0001a0003a0007others(4): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0009a0001c0002t0010a0001c0002t0021others(21): Show | a0001c0002t0009g0262 a0001c0002t0009g0266 a0001c0002t0009g0278 others(88): Show |
91 | 332 | 0.2741 | -2 | c.*34 others(13): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 41/41 | 3460 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGGT1_chr2_128086200_128200677 | 128200335 | CTG | C | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03130.hp1 NA18522.hp2 |
a0001 | a0001c0007 | a0001c0007t0022a0001c0007t0042 | a0001c0007t0022g0245 a0001c0007t0022g0247 a0001c0007t0042g0246 |
3 | 332 | 0.0090 | -2 | c.*10 others(15): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 4659 | chr2 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 95803574 | TTA | T | intron_variant | MODIFIER | HG02486.hp1 HG02976.hp2 HG03139.hp1 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0329 a0006c0008t0001g0150 a0006c0008t0001g0151 |
3 | 332 | 0.0090 | -2 | c.452 others(21): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 38/38 | chr13 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 95805623 | CAT | C | intron_variant | MODIFIER | HG02723.hp1 HG03098.hp1 HG03209.hp2 others(1): Show |
a0003a0008 | a0003c0003a0008c0016a0008c0023 | a0003c0003t0001a0008c0016t0001a0008c0023t0001 | a0003c0003t0001g0154 a0008c0016t0001g0152 a0008c0016t0001g0153 others(1): Show |
4 | 332 | 0.0121 | -2 | c.452 others(21): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 38/38 | chr13 | TogoVar |