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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBXN7_chr3_196342662_196437427 | 196374918 | G | GGGAAGGG others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02083.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0017a0001c0001t0026others(7): Show | a0001c0001t0003g0091 a0001c0001t0003g0194 a0001c0001t0017g0222 others(10): Show |
13 | 245 | 0.0531 | 9 | c.469 others(26): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
UBXN7_chr3_196342662_196437427 | 196401274 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0040others(1): Show | a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0005g0255 others(3): Show |
6 | 163 | 0.0368 | 9 | c.289 others(26): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
UCHL5_chr1_193007254_193064360 | 193043151 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0050 others(2): Show |
10 | 38 | 0.2632 | 9 | c.246 others(26): Show |
UCHL5 | ENSG00000116750.14 | transcript | ENST00000367454.6 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165879545 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01256.hp2 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0029 | a0001c0001t0002g0070 a0001c0001t0002g0162 a0001c0001t0002g0270 others(6): Show |
9 | 135 | 0.0667 | 9 | c.100 others(28): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165902592 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01175.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0030others(3): Show | a0001c0001t0002g0174 a0001c0001t0002g0273 a0001c0001t0005g0005 others(12): Show |
15 | 50 | 0.3000 | 9 | c.500 others(24): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCN_chr2_27302400_27313445 | 27309371 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01346.hp1 HG02015.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
20 | 129 | 0.1550 | 9 | c.-12 others(20): Show |
UCN | ENSG00000163794.6 | transcript | ENST00000296099.2 | protein_coding | 927 | chr2 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111894990 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02630.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0025others(4): Show | a0001c0001t0005g0289 a0001c0001t0005g0294 a0001c0001t0007g0310 others(8): Show |
11 | 57 | 0.1930 | 9 | c.-22 others(20): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1823 | chr9 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111921802 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02040.hp2 HG02071.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0025a0001c0001t0053others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0192 a0001c0001t0001g0203 others(11): Show |
15 | 51 | 0.2941 | 9 | c.241 others(26): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128182698 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(81): Show |
a0001a0005a0007 | a0001c0002a0001c0005a0001c0007others(2): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0009others(15): Show | a0001c0002t0003g0253 a0001c0002t0003g0258 a0001c0002t0003g0259 others(81): Show |
84 | 240 | 0.3500 | 9 | c.424 others(26): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT2_chr13_95796580_96058401 | 95979548 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(64): Show |
a0001a0002a0003others(4): Show | a0001c0004a0002c0002a0003c0003others(6): Show | a0001c0004t0001a0002c0002t0001a0003c0003t0001others(7): Show | a0001c0004t0001g0193 a0001c0004t0001g0230 a0002c0002t0001g0258 others(64): Show |
67 | 124 | 0.5403 | 9 | c.109 others(28): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 10/38 | chr13 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233661627 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03491.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0261 |
3 | 300 | 0.0100 | 9 | c.855 others(28): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A10_chr2_233631448_233778300 | 233695130 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show |
a0001a0002a0011 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0030 others(76): Show |
79 | 180 | 0.4389 | 9 | c.855 others(28): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A10_chr2_233631448_233778300 | 233725218 | A | AGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG04204.hp2 NA19062.hp1 others(1): Show |
a0001a0012 | a0001c0001a0012c0007 | a0001c0001t0001a0012c0007t0001 | a0001c0001t0001g0224 a0001c0001t0001g0253 a0001c0001t0001g0268 others(1): Show |
4 | 245 | 0.0163 | 9 | c.856 others(28): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A4_chr2_233713736_233778300 | 233725218 | A | AGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG04204.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0077 others(1): Show |
4 | 273 | 0.0147 | 9 | c.867 others(26): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233725218 | A | AGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG04204.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0114 others(1): Show |
4 | 273 | 0.0147 | 9 | c.867 others(28): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233695130 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(80): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0003g0240 a0001c0001t0003g0282 a0002c0002t0001g0005 others(77): Show |
83 | 201 | 0.4129 | 9 | c.861 others(26): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233695130 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(83): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0003g0264 a0001c0001t0003g0268 a0002c0002t0001g0005 others(80): Show |
86 | 192 | 0.4479 | 9 | c.855 others(28): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233661627 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03491.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0183 |
3 | 288 | 0.0104 | 9 | c.855 others(28): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233695130 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(70): Show |
a0001a0002a0008 | a0001c0001a0001c0007a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0130 others(70): Show |
73 | 169 | 0.4320 | 9 | c.856 others(28): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233725218 | A | AGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG04204.hp2 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0001t0001g0183 others(1): Show |
4 | 236 | 0.0169 | 9 | c.856 others(28): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233695130 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(81): Show |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0205 a0001c0001t0001g0206 others(80): Show |
84 | 193 | 0.4352 | 9 | c.855 others(28): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT2A1_chr4_69583417_69658247 | 69614116 | C | CTGAATGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(96): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(89): Show |
99 | 374 | 0.2647 | 9 | c.848 others(28): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
UGT2A1_chr4_69583417_69658247 | 69635828 | C | CAAAAAAA others(2): Show |
splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02630.hp2 HG02895.hp2 others(3): Show |
a0001a0009a0010 | a0001c0001a0009c0013a0010c0012 | a0001c0001t0001a0001c0001t0003a0009c0013t0007others(1): Show | a0001c0001t0001g0060 a0001c0001t0003g0014 a0001c0001t0003g0217 others(2): Show |
6 | 61 | 0.0984 | 9 | c.716 others(21): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69614116 | C | CTGAATGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(98): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 others(75): Show |
101 | 376 | 0.2686 | 9 | c.743 others(28): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69635828 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02895.hp2 others(3): Show |
a0001a0010a0013 | a0001c0001a0010c0011a0013c0010 | a0001c0001t0001a0001c0001t0003a0010c0011t0007others(1): Show | a0001c0001t0001g0078 a0001c0001t0003g0027 a0001c0001t0003g0138 others(2): Show |
6 | 60 | 0.1000 | 9 | c.742 others(26): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UHRF1_chr19_4904501_4967154 | 4938730 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01106.hp1 others(8): Show |
a0001a0002 | a0001c0007a0001c0009a0001c0019others(2): Show | a0001c0007t0001a0001c0009t0016a0001c0019t0020others(2): Show | a0001c0007t0001g0283 a0001c0009t0016g0202 a0001c0019t0020g0258 others(8): Show |
11 | 103 | 0.1068 | 9 | c.786 others(26): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UHRF1_chr19_4904501_4967154 | 4947490 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp2 others(9): Show |
a0001a0002 | a0001c0011a0002c0003a0002c0025others(1): Show | a0001c0011t0003a0002c0003t0001a0002c0025t0001others(1): Show | a0001c0011t0003g0186 a0001c0011t0003g0192 a0001c0011t0003g0193 others(9): Show |
12 | 92 | 0.1304 | 9 | c.151 others(26): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6445981 | C | CTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18747.hp1 NA18942.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0064 others(4): Show |
7 | 107 | 0.0654 | 9 | c.644 others(28): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6451773 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0019 others(68): Show |
71 | 72 | 0.9861 | 9 | c.645 others(26): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ULK2_chr17_19765830_19872936 | 19814456 | T | TGTTTGTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01258.hp1 HG01943.hp1 others(15): Show |
a0001 | a0001c0001a0001c0005a0001c0016 | a0001c0001t0001a0001c0001t0034a0001c0001t0043others(2): Show | a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0118 others(15): Show |
18 | 126 | 0.1429 | 9 | c.109 others(28): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 13/26 | chr17 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19872442 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00741.hp2 others(13): Show |
a0002a0004 | a0002c0002a0004c0008 | a0002c0002t0002a0002c0002t0012a0002c0002t0021others(1): Show | a0002c0002t0002g0240 a0002c0002t0002g0243 a0002c0002t0002g0251 others(13): Show |
16 | 241 | 0.0664 | 9 | c.-50 others(20): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 4507 | chr17 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41266459 | G | GCACTGAG others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02976.hp1 HG03486.hp1 |
a0003a0008a0016 | a0003c0016a0008c0010a0016c0015 | a0003c0016t0001a0008c0010t0002a0016c0015t0001 | a0003c0016t0001g0057 a0008c0010t0002g0056 a0016c0015t0001g0005 |
3 | 70 | 0.0429 | 9 | c.367 others(30): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41431547 | C | CATTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0055 |
2 | 28 | 0.0714 | 9 | c.349 others(30): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41716216 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03453.hp1 HG03453.hp2 others(1): Show |
a0002a0014a0020 | a0002c0004a0002c0009a0014c0022others(1): Show | a0002c0004t0002a0002c0009t0002a0014c0022t0001others(1): Show | a0002c0004t0002g0017 a0002c0009t0002g0018 a0014c0022t0001g0029 others(1): Show |
4 | 14 | 0.2857 | 9 | c.245 others(26): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 23/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41735687 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01891.hp1 others(8): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0004a0002c0009others(5): Show | a0001c0001t0001a0002c0004t0002a0002c0009t0002others(5): Show | a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0055 others(8): Show |
11 | 41 | 0.2683 | 9 | c.232 others(30): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 22/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41941755 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01109.hp1 others(5): Show |
a0001a0012a0015others(1): Show | a0001c0001a0012c0020a0015c0023others(1): Show | a0001c0001t0001a0012c0020t0001a0015c0023t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0036 others(5): Show |
8 | 23 | 0.3478 | 9 | c.139 others(26): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 2/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGCA others(2): Show |
start_lost others(1): Show |
HIGH | HG01069.hp1 HG01891.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0047a0001c0001t0048others(2): Show | a0001c0001t0030g0243 a0001c0001t0030g0248 a0001c0001t0047g0183 others(3): Show |
6 | 45 | 0.1333 | 9 | c.-9_ others(14): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
UMAD1_chr7_7635752_7884223 | 7741578 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02572.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0054a0001c0001t0071 | a0001c0001t0013g0104 a0001c0001t0054g0233 a0001c0001t0071g0004 |
3 | 118 | 0.0254 | 9 | c.83- others(26): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7748103 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02056.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0015 a0001c0001t0003g0182 a0001c0001t0004g0142 others(26): Show |
29 | 144 | 0.2014 | 9 | c.83- others(26): 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(2): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03041.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0016others(3): Show | a0001c0001t0007g0041 a0001c0001t0008g0153 a0001c0001t0016g0145 others(4): Show |
7 | 32 | 0.2188 | 9 | c.83- others(24): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42095089 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01517.hp1 HG01952.hp1 others(14): Show |
a0001a0004a0005others(8): Show | a0001c0001a0001c0020a0001c0133others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0020t0001others(12): Show | a0001c0001t0001g0062 a0001c0001t0004g0068 a0001c0020t0001g0059 others(14): Show |
17 | 79 | 0.2152 | 9 | c.932 others(26): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMOD_chr16_20328051_20357715 | 20349765 | T | TTCTGCCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01099.hp2 others(24): Show |
a0001a0004a0005others(1): Show | a0001c0004a0004c0009a0005c0008others(1): Show | a0001c0004t0001a0001c0004t0006a0004c0009t0001others(2): Show | a0001c0004t0001g0004 a0001c0004t0001g0015 a0001c0004t0001g0032 others(14): Show |
27 | 402 | 0.0672 | 9 | c.89- others(22): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
UNC119B_chr12_120705458_120728640 | 120714544 | C | CGCCTGAC others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02486.hp2 HG02698.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 a0001c0001t0007g0047 a0001c0001t0007g0048 |
14 | 396 | 0.0354 | 9 | c.358 others(26): Show |
UNC119B | ENSG00000175970.11 | transcript | ENST00000344651.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17601050 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(31): Show | a0001c0001t0001g0107 a0001c0001t0001g0166 a0001c0001t0001g0174 others(42): Show |
45 | 191 | 0.2356 | 9 | c.*50 others(20): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 285 | chr19 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35161206 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG02004.hp1 others(12): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0013a0002c0003others(5): Show | a0001c0001t0001a0001c0013t0001a0002c0003t0001others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0071 others(12): Show |
15 | 91 | 0.1648 | 9 | c.-10 others(20): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 802 | chr9 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54138953 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02486.hp2 HG02559.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0041others(6): Show | a0001c0001t0002g0144 a0001c0001t0017g0136 a0001c0001t0041g0118 others(6): Show |
9 | 14 | 0.6429 | 9 | c.298 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54154264 | A | ATCTGTAG others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02886.hp2 others(5): Show |
a0001a0006a0014 | a0001c0002a0001c0004a0001c0034others(2): Show | a0001c0002t0002a0001c0002t0008a0001c0004t0018others(5): Show | a0001c0002t0002g0082 a0001c0002t0008g0075 a0001c0004t0018g0096 others(5): Show |
8 | 156 | 0.0513 | 9 | c.307 others(30): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54250752 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02897.hp1 |
a0001a0008 | a0001c0033a0008c0023 | a0001c0033t0033a0008c0023t0043 | a0001c0033t0033g0093 a0008c0023t0043g0129 |
2 | 134 | 0.0149 | 9 | c.344 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 8/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54269049 | T | TTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03225.hp1 others(1): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0024 | a0001c0001t0036a0001c0001t0059a0001c0003t0021others(1): Show | a0001c0001t0036g0089 a0001c0001t0059g0147 a0001c0003t0021g0155 others(1): Show |
4 | 156 | 0.0256 | 9 | c.381 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 10/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54408199 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01361.hp2 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0014g0083 others(4): Show |
7 | 42 | 0.1667 | 9 | c.484 others(28): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |