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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UST_chr6_148742030_149081990 | 149017799 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0005 | a0002c0005t0019 | a0002c0005t0019g0103 | 1 | 17 | 0.0588 | 16 | c.682 others(33): Show |
UST | ENSG00000111962.8 | transcript | ENST00000367463.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTP11_chr1_38007734_38029820 | 38012048 | G | GTTTTTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0002g0021 |
2 | 144 | 0.0139 | 16 | c.-75 others(25): Show |
UTP11 | ENSG00000183520.12 | transcript | ENST00000373014.5 | protein_coding | 685 | chr1 | TogoVar | |||||||
UTP18_chr17_51255546_51302933 | 51271581 | T | TCTGTACT others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(9): Show |
12 | 364 | 0.0330 | 16 | c.623 others(33): Show |
UTP18 | ENSG00000011260.14 | transcript | ENST00000225298.12 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
UTP18_chr17_51255546_51302933 | 51273739 | T | TAATAAAT others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(70): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0018 a0001c0002t0001g0002 a0001c0002t0001g0009 others(53): Show |
73 | 240 | 0.3042 | 16 | c.711 others(31): Show |
UTP18 | ENSG00000011260.14 | transcript | ENST00000225298.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UTP20_chr12_101275105_101391618 | 101310577 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0030 others(1): Show |
4 | 92 | 0.0435 | 16 | c.223 others(33): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UTP20_chr12_101275105_101391618 | 101310595 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0169 | 1 | 325 | 0.0031 | 16 | c.223 others(33): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UTP20_chr12_101275105_101391618 | 101324217 | C | CATTTATT others(9): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02148.hp2 NA18967.hp1 |
a0001a0017 | a0001c0001a0017c0033 | a0001c0001t0002a0001c0001t0006a0017c0033t0007 | a0001c0001t0002g0299 a0001c0001t0006g0285 a0017c0033t0007g0300 |
3 | 92 | 0.0326 | 16 | c.304 others(35): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UTP20_chr12_101275105_101391618 | 101365072 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0023 | 1 | 55 | 0.0182 | 16 | c.595 others(33): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 45/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UTP25_chr1_209822972_209862565 | 209824212 | G | GCACACAC others(9): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01243.hp1 others(14): Show |
a0001a0003a0010others(1): Show | a0001c0001a0003c0003a0010c0018others(1): Show | a0001c0001t0003a0001c0001t0016a0003c0003t0005others(4): Show | a0001c0001t0003g0003 a0001c0001t0016g0022 a0003c0003t0005g0006 others(6): Show |
17 | 94 | 0.1809 | 16 | c.-38 others(27): Show |
UTP25 | ENSG00000117597.18 | transcript | ENST00000491415.7 | protein_coding | 3759 | chr1 | TogoVar | |||||||
UTP25_chr1_209822972_209862565 | 209858872 | A | ACCCACCT others(9): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0056 | a0002c0002t0056g0002 | 1 | 428 | 0.0023 | 16 | c.*74 others(27): Show |
UTP25 | ENSG00000117597.18 | transcript | ENST00000491415.7 | protein_coding | 1308 | chr1 | TogoVar | |||||||
UTP6_chr17_31855904_31906708 | 31859374 | G | GGGGGCGG others(9): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 322 | 0.0031 | 16 | c.*39 others(27): Show |
UTP6 | ENSG00000108651.10 | transcript | ENST00000261708.9 | protein_coding | 1529 | chr17 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144302509 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01433.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0009others(6): Show | a0001c0001t0001a0001c0006t0003a0001c0006t0005others(7): Show | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0006t0003g0125 others(11): Show |
14 | 100 | 0.1400 | 16 | c.79+ others(33): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 2/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144337194 | C | CCACACAC others(9): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp2 HG02647.hp2 others(3): Show |
a0001a0004 | a0001c0006a0001c0011a0004c0017 | a0001c0006t0003a0001c0006t0005a0001c0011t0014others(1): Show | a0001c0006t0003g0125 a0001c0006t0005g0123 a0001c0006t0005g0124 others(3): Show |
6 | 104 | 0.0577 | 16 | c.79+ others(33): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 2/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144346875 | C | CATCTATC others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0095 | 1 | 67 | 0.0149 | 16 | c.79+ others(33): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 2/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144388481 | A | ATTATTTA others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02280.hp1 HG02559.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0001c0018others(5): Show | a0001c0001t0005a0001c0001t0006a0001c0009t0002others(6): Show | a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0006g0013 others(7): Show |
10 | 78 | 0.1282 | 16 | c.80- others(33): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 2/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144469703 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0010 | a0010c0056 | a0010c0056t0006 | a0010c0056t0006g0001 | 1 | 88 | 0.0114 | 16 | c.306 others(35): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 23/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144471057 | A | AGGGGGGG others(9): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0010a0001c0041 | a0001c0001t0001a0001c0010t0002a0001c0041t0002 | a0001c0001t0001g0051 a0001c0010t0002g0059 a0001c0041t0002g0039 |
3 | 116 | 0.0259 | 16 | c.306 others(35): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 23/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144477869 | C | CTTTATCT others(9): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0124 | 1 | 34 | 0.0294 | 16 | c.333 others(35): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 25/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144690095 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 35 | 0.0286 | 16 | c.765 others(35): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144819911 | C | CCTCCTCC others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0005a0002c0007others(7): Show | a0001c0002t0004a0001c0002t0007a0001c0002t0012others(10): Show | a0001c0002t0004g0037 a0001c0002t0007g0085 a0001c0002t0007g0100 others(13): Show |
16 | 86 | 0.1860 | 16 | c.935 others(33): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 65/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144819911 | C | CCTCCTCC others(9): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0013 | a0013c0046 | a0013c0046t0020 | a0013c0046t0020g0069 | 1 | 71 | 0.0141 | 16 | c.935 others(33): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 65/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144826161 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01358.hp1 others(6): Show |
a0001a0003a0014 | a0001c0001a0001c0011a0001c0029others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0044 a0001c0001t0005g0102 a0001c0001t0005g0114 others(6): Show |
9 | 84 | 0.1071 | 16 | c.949 others(35): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 66/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144854226 | T | TATAGATA others(9): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0058 | a0001c0058t0011 | a0001c0058t0011g0080 | 1 | 39 | 0.0256 | 16 | c.*32 others(27): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1193 | chr6 | TogoVar | |||||||
UTS2B_chr3_191262168_191335526 | 191271200 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0165 | 1 | 124 | 0.0081 | 16 | c.335 others(33): Show |
UTS2B | ENSG00000188958.10 | transcript | ENST00000340524.10 | protein_coding | 8/8 | chr3 | TogoVar | |||||||
UTS2B_chr3_191262168_191335526 | 191289408 | C | CAATAAAT others(9): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0023 | a0001c0001t0017g0013 a0001c0001t0023g0279 |
3 | 272 | 0.0110 | 16 | c.-12 others(35): Show |
UTS2B | ENSG00000188958.10 | transcript | ENST00000340524.10 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
UTS2B_chr3_191262168_191335526 | 191289447 | T | TAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01358.hp2 NA18612.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0107 others(17): Show |
21 | 385 | 0.0545 | 16 | c.-12 others(35): Show |
UTS2B | ENSG00000188958.10 | transcript | ENST00000340524.10 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
UTS2_chr1_7842612_7858065 | 7857100 | A | AAAGGAAG others(9): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01106.hp2 HG02132.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(2): Show |
13 | 371 | 0.0350 | 16 | c.-40 others(27): Show |
UTS2 | ENSG00000049247.14 | transcript | ENST00000361696.10 | protein_coding | 4036 | chr1 | TogoVar | |||||||
UTS2_chr1_7842612_7858065 | 7857107 | T | TGAAGGAA others(9): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01175.hp1 HG01358.hp2 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(34): Show |
63 | 66 | 0.9545 | 16 | c.-41 others(27): Show |
UTS2 | ENSG00000049247.14 | transcript | ENST00000361696.10 | protein_coding | 4043 | chr1 | TogoVar | |||||||
UTY_chrY_13243385_13485033 | 13380061 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0076 | 1 | 50 | 0.0200 | 16 | c.646 others(35): Show |
UTY | ENSG00000183878.16 | transcript | ENST00000545955.6 | protein_coding | 8/29 | chrY | TogoVar | |||||||
UTY_chrY_13243385_13485033 | 13446615 | T | TAGACAGA others(9): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 94 | 0.0106 | 16 | c.375 others(33): Show |
UTY | ENSG00000183878.16 | transcript | ENST00000545955.6 | protein_coding | 4/29 | chrY | TogoVar | |||||||
UTY_chrY_13243385_13485033 | 13446619 | T | TAGACAGA others(9): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18943.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | 35 | 0.0857 | 16 | c.375 others(33): Show |
UTY | ENSG00000183878.16 | transcript | ENST00000545955.6 | protein_coding | 4/29 | chrY | TogoVar | |||||||
UTY_chrY_13243385_13485033 | 13446619 | T | TAGATAGA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 33 | 0.0303 | 16 | c.375 others(33): Show |
UTY | ENSG00000183878.16 | transcript | ENST00000545955.6 | protein_coding | 4/29 | chrY | TogoVar | |||||||
UVRAG_chr11_75810210_76149232 | 75884212 | G | GTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0006 | a0001c0001t0003g0141 a0002c0002t0006g0124 |
2 | 96 | 0.0208 | 16 | c.432 others(33): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75884226 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0121 | 1 | 128 | 0.0078 | 16 | c.432 others(33): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75884228 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0002 a0001c0001t0020g0003 |
2 | 144 | 0.0139 | 16 | c.432 others(33): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75897871 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003 | 1 | 12 | 0.0833 | 16 | c.507 others(33): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75930927 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02080.hp1 HG02602.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0052 a0001c0001t0001g0057 a0002c0002t0002g0101 others(1): Show |
4 | 24 | 0.1667 | 16 | c.593 others(35): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75930932 | T | TTTCTTTC others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0079 | 1 | 144 | 0.0069 | 16 | c.593 others(35): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 76053308 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0082 | 1 | 94 | 0.0106 | 16 | c.122 others(37): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 76076802 | G | GTATGTAT others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0079 | 1 | 59 | 0.0169 | 16 | c.130 others(37): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 76076802 | G | GTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG02055.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0002g0076 others(7): Show |
10 | 68 | 0.1471 | 16 | c.130 others(37): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 76110211 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02145.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(4): Show | a0001c0001t0001g0143 a0001c0001t0004g0039 a0001c0001t0004g0042 others(5): Show |
8 | 92 | 0.0870 | 16 | c.130 others(35): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 76140112 | C | CCTCCCTC others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0138 | 1 | 90 | 0.0111 | 16 | c.139 others(33): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1371256 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0144 | 1 | 59 | 0.0169 | 16 | c.128 others(35): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UXT_chrX_47646796_47664180 | 47660105 | C | CCCTTCCT others(9): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0028 |
4 | 191 | 0.0209 | 16 | c.-10 others(27): Show |
UXT | ENSG00000126756.12 | transcript | ENST00000333119.8 | protein_coding | 926 | chrX | TogoVar | |||||||
VAC14_chr16_70682439_70806158 | 70760962 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 80 | 0.0125 | 16 | c.137 others(35): Show |
VAC14 | ENSG00000103043.15 | transcript | ENST00000261776.10 | protein_coding | 12/18 | chr16 | TogoVar | |||||||
VAC14_chr16_70682439_70806158 | 70761016 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03098.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0304 a0001c0003t0004g0305 |
2 | 304 | 0.0066 | 16 | c.137 others(35): Show |
VAC14 | ENSG00000103043.15 | transcript | ENST00000261776.10 | protein_coding | 12/18 | chr16 | TogoVar | |||||||
VAMP2_chr17_8154149_8167948 | 8160380 | G | GGTTTTTT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0070 | 1 | 61 | 0.0164 | 16 | c.*47 others(25): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 5/5 | 474 | chr17 | TogoVar | ||||||
VAMP2_chr17_8154149_8167948 | 8160380 | G | GTTTTTTT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp1 NA18952.hp1 NA18972.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0063 | a0001c0001t0025g0024 a0001c0001t0063g0082 |
5 | 65 | 0.0769 | 16 | c.*45 others(25): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 5/5 | 474 | chr17 | TogoVar | ||||||
VAMP5_chr2_85579431_85598406 | 85592800 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0003g0017 others(2): Show |
13 | 246 | 0.0528 | 16 | c.142 others(31): Show |
VAMP5 | ENSG00000168899.5 | transcript | ENST00000306384.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |