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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCP1_chr4_140554431_140573961 | 140568108 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02040.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0121 a0001c0001t0002g0049 a0001c0001t0002g0122 others(5): Show |
13 | 44 | 0.2955 | -18 | c.127 others(33): Show |
UCP1 | ENSG00000109424.4 | transcript | ENST00000262999.4 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UCP2_chr11_73969672_73987843 | 73970547 | GGAAAACT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0020 | 2 | 418 | 0.0048 | -18 | c.*44 others(29): Show |
UCP2 | ENSG00000175567.11 | transcript | ENST00000663595.2 | protein_coding | 4124 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18528361 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 396 | 0.0025 | -18 | c.*39 others(29): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 1247 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18528371 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 370 | 0.0027 | -18 | c.*39 others(29): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 1237 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560122 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 398 | 0.0025 | -18 | c.613 others(35): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560128 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0010 | a0004c0010t0013 | a0004c0010t0013g0328 | 1 | 398 | 0.0025 | -18 | c.613 others(35): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UGGT1_chr2_128086200_128200677 | 128169048 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0009 | a0009c0022 | a0009c0022t0048 | a0009c0022t0048g0135 | 1 | 26 | 0.0385 | -18 | c.292 others(37): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 26/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT2_chr13_95796580_96058401 | 95932311 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 30 | 0.0333 | -18 | c.197 others(37): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 17/38 | chr13 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 95942221 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG06807.hp2 NA19030.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0100 a0001c0001t0001g0263 a0001c0001t0001g0293 others(1): Show |
4 | 49 | 0.0816 | -18 | c.167 others(37): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 15/38 | chr13 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(44): Show |
48 | 206 | 0.2330 | -18 | c.856 others(37): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A3_chr2_233724042_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(57): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0017 others(36): Show |
60 | 241 | 0.2490 | -18 | c.-38 others(29): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 3777 | chr2 | TogoVar | |||||||
UGT1A4_chr2_233713736_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(53): Show |
a0001 | a0001c0001a0001c0013a0001c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(36): Show |
56 | 231 | 0.2424 | -18 | c.867 others(35): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00621.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0158 a0001c0002t0001g0001 a0001c0002t0001g0024 others(38): Show |
56 | 229 | 0.2445 | -18 | c.867 others(37): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp2 others(50): Show |
a0001a0002a0007 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(41): Show |
53 | 229 | 0.2314 | -18 | c.861 others(37): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0016 others(42): Show |
50 | 220 | 0.2273 | -18 | c.856 others(37): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(4): Show | a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0195 others(42): Show |
46 | 200 | 0.2300 | -18 | c.856 others(37): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233725264 | GGAGGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(50): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0046 others(46): Show |
53 | 219 | 0.2420 | -18 | c.856 others(37): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT2A3_chr4_68923463_68956804 | 68935272 | GTATGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02559.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0005a0002c0001t0001a0002c0001t0007 | a0001c0003t0005g0003 a0001c0003t0005g0070 a0001c0003t0005g0074 others(3): Show |
12 | 261 | 0.0460 | -18 | c.865 others(35): Show |
UGT2A3 | ENSG00000135220.11 | transcript | ENST00000251566.9 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UGT2A3_chr4_68923463_68956804 | 68942504 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(278): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0003a0001c0010others(6): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0014others(13): Show | a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0014 others(194): Show |
281 | 325 | 0.8646 | -18 | c.864 others(35): Show |
UGT2A3 | ENSG00000135220.11 | transcript | ENST00000251566.9 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UHRF2_chr9_6408199_6512054 | 6428533 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0003t0001g0011 others(2): Show |
5 | 19 | 0.2632 | -18 | c.385 others(35): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6488251 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01099.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0041 others(34): Show |
37 | 40 | 0.9250 | -18 | c.149 others(37): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UIMC1_chr5_176900006_177011779 | 176911152 | AAAGAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0014 | 1 | 323 | 0.0031 | -18 | c.167 others(35): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176911157 | AAAGAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18952.hp2 NA18978.hp2 NA19056.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0119 a0002c0003t0001g0121 a0002c0003t0001g0130 others(2): Show |
5 | 325 | 0.0154 | -18 | c.167 others(35): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
ULBP1_chr6_149958943_149978715 | 149964348 | CGATCTCC others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 438 | 0.0023 | -18 | c.85+ others(31): Show |
ULBP1 | ENSG00000111981.5 | transcript | ENST00000229708.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ULBP1_chr6_149958943_149978715 | 149964781 | CCCCAACA others(11): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA21309.hp1 |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0014a0007c0010t0014 | a0001c0002t0014g0090 a0007c0010t0014g0091 |
2 | 438 | 0.0046 | -18 | c.85+ others(31): Show |
ULBP1 | ENSG00000111981.5 | transcript | ENST00000229708.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ULBP1_chr6_149958943_149978715 | 149965267 | CGAACATC others(11): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0090 | 1 | 438 | 0.0023 | -18 | c.85+ others(33): Show |
ULBP1 | ENSG00000111981.5 | transcript | ENST00000229708.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131916078 | CCGGAACC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | NA21309.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0112 | 1 | 342 | 0.0029 | -18 | c.179 others(27): Show |
p.Arg others(13): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 19/28 | 2179/5322 | 1799/3153 | 600/1050 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ULK2_chr17_19765830_19872936 | 19856977 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 165 | 0.0061 | -18 | c.226 others(35): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 3/26 | chr17 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41258986 | ATATACAT others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp1 |
a0003a0016 | a0003c0016a0016c0015 | a0003c0016t0001a0016c0015t0001 | a0003c0016t0001g0057 a0016c0015t0001g0005 |
2 | 70 | 0.0286 | -18 | c.367 others(37): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41323391 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG03453.hp2 others(1): Show |
a0002a0004a0009 | a0002c0004a0004c0002a0009c0008 | a0002c0004t0002a0004c0002t0005a0009c0008t0002 | a0002c0004t0002g0017 a0004c0002t0005g0068 a0009c0008t0002g0020 others(1): Show |
4 | 12 | 0.3333 | -18 | c.367 others(39): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41343295 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG02572.hp1 HG02622.hp1 others(5): Show |
a0001a0004a0021 | a0001c0001a0004c0002a0021c0019 | a0001c0001t0001a0001c0001t0003a0004c0002t0005others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0051 others(5): Show |
8 | 34 | 0.2353 | -18 | c.367 others(39): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41353699 | TTACTACT others(11): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02976.hp1 |
a0008a0017 | a0008c0010a0017c0012 | a0008c0010t0002a0017c0012t0001 | a0008c0010t0002g0056 a0017c0012t0001g0063 |
2 | 13 | 0.1538 | -18 | c.367 others(39): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41431355 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02257.hp1 others(6): Show |
a0001a0004a0010others(1): Show | a0001c0001a0004c0002a0010c0011others(1): Show | a0001c0001t0003a0004c0002t0001a0004c0002t0002others(2): Show | a0001c0001t0003g0069 a0001c0001t0003g0070 a0004c0002t0001g0006 others(6): Show |
9 | 32 | 0.2813 | -18 | c.349 others(39): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 34/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41592258 | TGAGTCAA others(11): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0050 | 1 | 70 | 0.0143 | -18 | c.312 others(39): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 31/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41890742 | AGGAGGGA others(11): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01243.hp2 others(5): Show |
a0004a0007a0010 | a0004c0002a0007c0005a0010c0011 | a0004c0002t0002a0007c0005t0001a0010c0011t0002 | a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009 others(5): Show |
8 | 22 | 0.3636 | -18 | c.157 others(37): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7643717 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0023 | 1 | 247 | 0.0040 | -18 | c.-64 others(35): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847100 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0237 | 1 | 227 | 0.0044 | -18 | c.157 others(37): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847102 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0014 | 1 | 216 | 0.0046 | -18 | c.157 others(37): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847104 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0078 | a0001c0001t0044g0121 a0001c0001t0078g0149 |
2 | 201 | 0.0100 | -18 | c.157 others(37): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7864602 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0086 others(21): Show |
24 | 48 | 0.5000 | -18 | c.157 others(37): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42077002 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG03704.hp2 NA18955.hp1 |
a0003a0107 | a0003c0004a0107c0179 | a0003c0004t0028a0107c0179t0002 | a0003c0004t0028g0038 a0107c0179t0002g0384 |
2 | 33 | 0.0606 | -18 | c.319 others(33): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124746755 | TTGTGTGT others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0135 | 1 | 8 | 0.1250 | -18 | c.*26 others(29): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 6/6 | 2696 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
UNC119_chr17_28541708_28557624 | 28542122 | CATATATA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 128 | 0.0078 | -18 | c.*51 others(29): Show |
UNC119 | ENSG00000109103.12 | transcript | ENST00000335765.9 | protein_coding | 4585 | chr17 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54124804 | GAAGTTTA others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp1 others(62): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(49): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0035 others(62): Show |
65 | 156 | 0.4167 | -18 | c.298 others(39): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54172703 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0007 | a0007c0010 | a0007c0010t0035 | a0007c0010t0035g0140 | 1 | 9 | 0.1111 | -18 | c.307 others(39): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54283694 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 156 | 0.0064 | -18 | c.381 others(39): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 10/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54475281 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(34): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(24): Show | a0001c0001t0002g0102 a0001c0001t0007g0016 a0001c0001t0011g0077 others(34): Show |
37 | 53 | 0.6981 | -18 | c.493 others(39): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54552680 | AATTATAT others(11): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02809.hp2 HG02818.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0008 | a0001c0001t0015a0001c0001t0056a0001c0001t0057others(3): Show | a0001c0001t0015g0070 a0001c0001t0056g0015 a0001c0001t0057g0145 others(3): Show |
6 | 155 | 0.0387 | -18 | c.587 others(37): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176808448 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01069.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0122 others(15): Show |
19 | 44 | 0.4318 | -18 | c.-23 others(29): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 2110 | chr5 | TogoVar | |||||||
UNC5B_chr10_71207570_71307864 | 71227707 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01257.hp2 HG01258.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(6): Show | a0001c0001t0002g0103 a0001c0001t0013g0234 a0001c0002t0001g0001 others(10): Show |
15 | 190 | 0.0789 | -18 | c.79+ others(35): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |