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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UFSP2_chr4_185394537_185430964 | 185418068 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 297 | 0.0034 | 17 | c.333 others(32): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111921802 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01099.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(3): Show | a0001c0002t0002g0048 a0001c0002t0002g0073 a0001c0002t0002g0074 others(11): Show |
16 | 52 | 0.3077 | 17 | c.241 others(34): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGGT2_chr13_95796580_96058401 | 95807716 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01346.hp2 HG01517.hp1 others(17): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0003c0009others(5): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0002others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0330 a0003c0003t0001g0247 others(17): Show |
20 | 110 | 0.1818 | 17 | c.452 others(36): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 38/38 | chr13 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 95924393 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02818.hp2 NA18965.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0018 a0003c0003t0001g0020 a0003c0003t0001g0251 others(2): Show |
5 | 33 | 0.1515 | 17 | c.229 others(36): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 20/38 | chr13 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 95979548 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02818.hp1 HG03540.hp2 |
a0006a0017 | a0006c0008a0017c0034 | a0006c0008t0001a0017c0034t0001 | a0006c0008t0001g0178 a0006c0008t0001g0179 a0017c0034t0001g0177 |
3 | 60 | 0.0500 | 17 | c.109 others(36): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 10/38 | chr13 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 96054210 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01981.hp1 others(5): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0027a0002c0002others(2): Show | a0001c0001t0001a0001c0027t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0290 others(5): Show |
8 | 9 | 0.8889 | 17 | c.-89 others(26): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 810 | chr13 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233661623 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00733.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0228 others(12): Show |
15 | 62 | 0.2419 | 17 | c.855 others(36): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A10_chr2_233631448_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 261 | 0.0038 | 17 | c.856 others(36): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A3_chr2_233724042_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02155.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0038 |
2 | 308 | 0.0065 | 17 | c.-39 others(28): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 3822 | chr2 | TogoVar | |||||||
UGT1A4_chr2_233713736_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 287 | 0.0035 | 17 | c.867 others(34): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 | 1 | 285 | 0.0035 | 17 | c.867 others(36): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 286 | 0.0035 | 17 | c.861 others(36): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 275 | 0.0036 | 17 | c.856 others(36): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233661623 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00733.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 others(12): Show |
15 | 63 | 0.2381 | 17 | c.855 others(36): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 251 | 0.0040 | 17 | c.856 others(36): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233725219 | G | GGGGGAGG others(10): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 275 | 0.0036 | 17 | c.856 others(36): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT2A1_chr4_69583417_69658247 | 69635828 | C | CAAAAAAA others(10): Show |
splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00597.hp1 HG00609.hp1 others(43): Show |
a0001a0003 | a0001c0001a0001c0017a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0026 others(41): Show |
46 | 101 | 0.4554 | 17 | c.716 others(29): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69635828 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00609.hp1 others(45): Show |
a0001a0002a0004 | a0001c0001a0001c0017a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 others(31): Show |
48 | 102 | 0.4706 | 17 | c.742 others(34): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UGT2A3_chr4_68923463_68956804 | 68928188 | A | ATGCCAGA others(10): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0165 | 1 | 458 | 0.0022 | 17 | c.*16 others(28): Show |
UGT2A3 | ENSG00000135220.11 | transcript | ENST00000251566.9 | protein_coding | 274 | chr4 | TogoVar | |||||||
UGT2B15_chr4_68641597_68675652 | 68666752 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0095 | 1 | 191 | 0.0052 | 17 | c.873 others(34): Show |
UGT2B15 | ENSG00000196620.10 | transcript | ENST00000338206.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UGT3A1_chr5_35946006_35996390 | 35994333 | T | TTTGTTTG others(10): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 NA18964.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0027 | a0001c0001t0001g0129 a0001c0001t0010g0014 a0001c0001t0010g0112 others(1): Show |
4 | 80 | 0.0500 | 17 | c.-30 others(28): Show |
UGT3A1 | ENSG00000145626.12 | transcript | ENST00000274278.8 | protein_coding | 2944 | chr5 | TogoVar | |||||||
UHRF1_chr19_4904501_4967154 | 4910340 | G | GGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp2 others(13): Show |
a0001 | a0001c0004a0001c0006a0001c0009others(3): Show | a0001c0004t0003a0001c0006t0003a0001c0006t0006others(4): Show | a0001c0004t0003g0143 a0001c0004t0003g0145 a0001c0006t0003g0002 others(12): Show |
16 | 312 | 0.0513 | 17 | c.-10 others(32): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UHRF1_chr19_4904501_4967154 | 4938730 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02148.hp1 HG03195.hp2 HG03688.hp2 |
a0001 | a0001c0007a0001c0013a0001c0014 | a0001c0007t0001a0001c0013t0003a0001c0014t0010 | a0001c0007t0001g0281 a0001c0013t0003g0250 a0001c0014t0010g0153 |
3 | 95 | 0.0316 | 17 | c.786 others(34): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6428533 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 15 | 0.0667 | 17 | c.385 others(34): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UIMC1_chr5_176900006_177011779 | 177000498 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0190 | 1 | 273 | 0.0037 | 17 | c.-9+ others(32): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
ULBP2_chr6_149937014_149954235 | 149941925 | G | GCCGCGTG others(10): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 444 | 0.0023 | 17 | c.-14 others(26): Show |
ULBP2 | ENSG00000131015.5 | transcript | ENST00000367351.4 | protein_coding | 88 | chr6 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19845984 | G | GGCACATG others(10): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0251 | 1 | 286 | 0.0035 | 17 | c.470 others(32): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 6/26 | chr17 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41305192 | C | CTCTCCCT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01071.hp2 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0004a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0002others(8): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 others(15): Show |
18 | 62 | 0.2903 | 17 | c.367 others(38): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41412553 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 18 | 0.0556 | 17 | c.349 others(38): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41431547 | C | CCTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 27 | 0.0370 | 17 | c.349 others(38): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41473661 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0057 | 1 | 62 | 0.0161 | 17 | c.322 others(38): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41657818 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02970.hp2 |
a0002a0005 | a0002c0004a0005c0006 | a0002c0004t0002a0005c0006t0004 | a0002c0004t0002g0014 a0005c0006t0004g0001 |
2 | 9 | 0.2222 | 17 | c.307 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 30/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41794660 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 23 | 0.0435 | 17 | c.201 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 20/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41794686 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0019 | 1 | 63 | 0.0159 | 17 | c.201 others(36): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 20/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7761363 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(2): Show | a0001c0001t0003g0238 a0001c0001t0014g0003 a0001c0001t0021g0042 others(2): Show |
5 | 144 | 0.0347 | 17 | c.83- others(34): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7767128 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0209 | 1 | 147 | 0.0068 | 17 | c.83- others(34): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7796244 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0018others(3): Show | a0001c0001t0014g0003 a0001c0001t0014g0017 a0001c0001t0015g0113 others(4): Show |
7 | 32 | 0.2188 | 17 | c.83- others(32): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42069229 | A | ACACACAC others(10): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 NA19078.hp2 |
a0002a0004 | a0002c0005a0004c0007 | a0002c0005t0001a0004c0007t0002 | a0002c0005t0001g0165 a0004c0007t0002g0187 |
2 | 92 | 0.0217 | 17 | c.-20 others(28): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2087 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42069267 | C | CACACACA others(10): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 398 | 0.0025 | 17 | c.-20 others(28): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2049 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42069268 | A | ACACACAC others(10): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0154 | 1 | 394 | 0.0025 | 17 | c.-20 others(28): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2048 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42088759 | T | TCCCTCTG others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 |
a0020a0085 | a0020c0103a0085c0100 | a0020c0103t0001a0085c0100t0001 | a0020c0103t0001g0137 a0085c0100t0001g0149 |
2 | 398 | 0.0050 | 17 | c.790 others(32): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42095089 | G | GGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18943.hp1 NA19087.hp2 |
a0008a0036 | a0008c0012a0036c0049 | a0008c0012t0004a0036c0049t0002 | a0008c0012t0004g0155 a0036c0049t0002g0021 a0036c0049t0002g0022 |
3 | 65 | 0.0462 | 17 | c.932 others(34): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 6/22 | chr21 | TogoVar | |||||||
UMOD_chr16_20328051_20357715 | 20345493 | T | TCCCTCCC others(10): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 402 | 0.0025 | 17 | c.118 others(34): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35157648 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03209.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0015 a0001c0007t0001g0183 |
2 | 8 | 0.2500 | 17 | c.-46 others(28): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 4360 | chr9 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35232177 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(49): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0004others(10): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(10): Show | a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0105 others(49): Show |
52 | 79 | 0.6582 | 17 | c.152 others(32): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35297547 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02486.hp1 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0158 a0005c0006t0001g0186 a0005c0006t0001g0194 others(3): Show |
6 | 190 | 0.0316 | 17 | c.761 others(34): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54038124 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0029 | a0001c0029t0046 | a0001c0029t0046g0143 | 1 | 19 | 0.0526 | 17 | c.298 others(38): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54075485 | G | GAGCTTGC others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0157 | 1 | 69 | 0.0145 | 17 | c.298 others(38): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54138953 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG02896.hp1 others(1): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0021others(1): Show | a0001c0002t0023a0001c0003t0009a0001c0021t0013others(1): Show | a0001c0002t0023g0064 a0001c0003t0009g0114 a0001c0021t0013g0038 others(1): Show |
4 | 9 | 0.4444 | 17 | c.298 others(36): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54175508 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03225.hp1 |
a0001a0011 | a0001c0001a0001c0002a0011c0024 | a0001c0001t0059a0001c0002t0001a0011c0024t0028 | a0001c0001t0059g0147 a0001c0002t0001g0018 a0011c0024t0028g0017 |
3 | 63 | 0.0476 | 17 | c.307 others(38): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |