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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UMODL1_chr21_42066317_42147996 | 42073819 | TCAATC | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(126): Show |
a0001a0002a0003others(55): Show | a0001c0001a0001c0008a0001c0133others(72): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(82): Show | a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0177 others(124): Show |
129 | 398 | 0.3241 | -5 | c.77- others(20): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42077001 | GGGTGT | G | intron_variant | MODIFIER | HG01099.hp2 HG01346.hp1 HG02129.hp2 others(4): Show |
a0002a0004a0015others(3): Show | a0002c0002a0004c0007a0015c0016others(3): Show | a0002c0002t0004a0004c0007t0002a0015c0016t0002others(3): Show | a0002c0002t0004g0347 a0004c0007t0002g0203 a0015c0016t0002g0142 others(4): Show |
7 | 387 | 0.0181 | -5 | c.319 others(20): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42133917 | TGTTTC | T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(5): Show |
a0014a0040 | a0014c0009a0040c0058 | a0014c0009t0008a0040c0058t0003 | a0014c0009t0008g0004 a0014c0009t0008g0118 a0014c0009t0008g0144 others(4): Show |
8 | 398 | 0.0201 | -5 | c.377 others(24): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMOD_chr16_20328051_20357715 | 20345399 | TTTTTC | T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0002a0001c0005t0001 | a0001c0001t0001g0190 a0001c0003t0002g0052 a0001c0005t0001g0013 others(5): Show |
11 | 401 | 0.0274 | -5 | c.118 others(22): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
UMOD_chr16_20328051_20357715 | 20345403 | TCTTTC | T | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0023 a0001c0002t0003g0069 a0001c0002t0003g0070 others(1): Show |
5 | 402 | 0.0124 | -5 | c.118 others(22): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124736420 | CATATT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(80): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0068a0002c0002t0002a0002c0002t0009others(11): Show | a0001c0001t0068g0056 a0002c0002t0002g0003 a0002c0002t0002g0013 others(36): Show |
83 | 432 | 0.1921 | -5 | c.311 others(22): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17631175 | CTCCTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0024others(1): Show | a0001c0002t0003a0001c0002t0027a0001c0002t0045others(3): Show | a0001c0002t0003g0068 a0001c0002t0027g0295 a0001c0002t0045g0164 others(3): Show |
6 | 307 | 0.0195 | -5 | c.342 others(22): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17646905 | CAGCAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(97): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0165 others(97): Show |
100 | 318 | 0.3145 | -5 | c.204 others(22): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 17/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17650933 | ATTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01109.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0002t0010a0001c0002t0011others(42): Show | a0001c0001t0001g0252 a0001c0002t0010g0069 a0001c0002t0011g0064 others(52): Show |
55 | 124 | 0.4435 | -5 | c.144 others(24): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 12/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17656852 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(74): Show | a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0250 others(121): Show |
124 | 187 | 0.6631 | -5 | c.768 others(20): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 9/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17663788 | TTTTTC | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(29): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(15): Show | a0001c0001t0004g0012 a0001c0002t0001g0106 a0001c0002t0003g0127 others(29): Show |
32 | 318 | 0.1006 | -5 | c.524 others(20): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 7/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17666126 | CTTTCT | C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01258.hp1 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0010others(13): Show | a0001c0002t0001g0266 a0001c0002t0008g0027 a0001c0002t0010g0033 others(18): Show |
21 | 219 | 0.0959 | -5 | c.523 others(20): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 7/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17670907 | GTAAAA | G | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02451.hp2 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0008a0001c0002t0011a0001c0002t0044others(15): Show | a0001c0002t0008g0027 a0001c0002t0008g0284 a0001c0002t0011g0064 others(16): Show |
19 | 115 | 0.1652 | -5 | c.271 others(22): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 4/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17681951 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0034a0001c0002t0001others(37): Show | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 others(50): Show |
53 | 70 | 0.7571 | -5 | c.23- others(20): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 1/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17686298 | GCCCCC | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(5): Show | a0001c0002t0003a0001c0002t0008a0001c0002t0010others(11): Show | a0001c0002t0003g0096 a0001c0002t0008g0284 a0001c0002t0010g0097 others(14): Show |
17 | 54 | 0.3148 | -5 | c.22+ others(20): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 1/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17691301 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01070.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0007others(6): Show | a0001c0001t0001g0022 a0001c0001t0004g0012 a0001c0002t0007g0018 others(11): Show |
14 | 120 | 0.1167 | -5 | c.-31 others(16): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 2948 | chr19 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35184801 | CGGGGG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(118): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0001c0013others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(30): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0059 others(118): Show |
121 | 128 | 0.9453 | -5 | c.22+ others(22): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35241591 | ACACAC | A | intron_variant | MODIFIER | HG02572.hp1 HG03490.hp1 |
a0004a0021 | a0004c0035a0021c0039 | a0004c0035t0001a0021c0039t0001 | a0004c0035t0001g0068 a0021c0039t0001g0215 |
2 | 222 | 0.0090 | -5 | c.395 others(22): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 5/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35254949 | TATATA | T | intron_variant | MODIFIER | HG02109.hp2 HG03209.hp1 HG03471.hp1 others(2): Show |
a0001a0003 | a0001c0007a0003c0002 | a0001c0007t0001a0003c0002t0001 | a0001c0007t0001g0015 a0001c0007t0001g0181 a0001c0007t0001g0182 others(2): Show |
5 | 222 | 0.0225 | -5 | c.469 others(22): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 6/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35254988 | ATATAT | A | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG02922.hp2 others(3): Show |
a0002a0006 | a0002c0003a0006c0008 | a0002c0003t0001a0006c0008t0002 | a0002c0003t0001g0045 a0006c0008t0002g0002 a0006c0008t0002g0008 others(3): Show |
6 | 222 | 0.0270 | -5 | c.469 others(22): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 6/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35255022 | TATATA | T | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG02738.hp2 others(8): Show |
a0006a0012a0024 | a0006c0008a0012c0014a0024c0021 | a0006c0008t0002a0012c0014t0004a0024c0021t0001 | a0006c0008t0002g0002 a0006c0008t0002g0003 a0006c0008t0002g0008 others(8): Show |
11 | 222 | 0.0495 | -5 | c.469 others(22): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 6/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35257580 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00673.hp2 others(38): Show |
a0002a0013a0014others(4): Show | a0002c0003a0002c0004a0002c0010others(7): Show | a0002c0003t0001a0002c0004t0001a0002c0010t0001others(7): Show | a0002c0003t0001g0024 a0002c0003t0001g0039 a0002c0003t0001g0040 others(38): Show |
41 | 120 | 0.3417 | -5 | c.469 others(22): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 6/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35319402 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(37): Show |
a0003a0006a0015others(1): Show | a0003c0002a0003c0016a0003c0024others(4): Show | a0003c0002t0001a0003c0016t0001a0003c0024t0001others(4): Show | a0003c0002t0001g0014 a0003c0002t0001g0021 a0003c0002t0001g0051 others(37): Show |
40 | 53 | 0.7547 | -5 | c.941 others(24): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35333102 | TTTATG | T | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG02922.hp2 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0002 a0006c0008t0002g0008 a0006c0008t0002g0009 others(2): Show |
5 | 222 | 0.0225 | -5 | c.941 others(26): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35392794 | AAAAAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02717.hp1 others(4): Show |
a0007a0023 | a0007c0009a0007c0025a0023c0026 | a0007c0009t0001a0007c0025t0001a0023c0026t0001 | a0007c0009t0001g0129 a0007c0009t0001g0185 a0007c0009t0001g0188 others(4): Show |
7 | 222 | 0.0315 | -5 | c.113 others(26): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 26/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35392809 | TAAAGA | T | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp1 HG02451.hp1 others(10): Show |
a0005a0022 | a0005c0006a0022c0041 | a0005c0006t0001a0022c0041t0001 | a0005c0006t0001g0156 a0005c0006t0001g0158 a0005c0006t0001g0186 others(10): Show |
13 | 222 | 0.0586 | -5 | c.113 others(26): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 26/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54006482 | TTAAAG | T | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0004t0018 | a0001c0001t0011g0069 a0001c0004t0018g0096 |
2 | 156 | 0.0128 | -5 | c.-25 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54074236 | TATATC | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp1 others(25): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0007a0001c0001t0016a0001c0001t0019others(24): Show | a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0001t0016g0113 others(25): Show |
28 | 156 | 0.1795 | -5 | c.298 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54075551 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00735.hp2 others(26): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0006g0106 others(26): Show |
29 | 34 | 0.8529 | -5 | c.298 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54100105 | CAAAAA | C | intron_variant | MODIFIER | HG01169.hp1 HG01192.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(12): Show | a0001c0001t0002g0144 a0001c0001t0006g0106 a0001c0001t0006g0124 others(15): Show |
18 | 31 | 0.5806 | -5 | c.298 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54153320 | TTATGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00735.hp1 others(44): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(36): Show | a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0006g0106 others(44): Show |
47 | 156 | 0.3013 | -5 | c.307 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54190992 | ATTAGT | A | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp1 |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0008a0007c0010t0035 | a0001c0002t0008g0081 a0007c0010t0035g0140 |
2 | 156 | 0.0128 | -5 | c.307 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54193747 | TAAGAG | T | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0057a0001c0002t0024 | a0001c0001t0007g0152 a0001c0001t0057g0145 a0001c0002t0024g0116 |
3 | 156 | 0.0192 | -5 | c.307 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54214698 | TTAAAG | T | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001a0011 | a0001c0002a0011c0024 | a0001c0002t0001a0011c0024t0028 | a0001c0002t0001g0018 a0011c0024t0028g0017 |
2 | 156 | 0.0128 | -5 | c.307 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54217777 | CTCTTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01515.hp2 others(9): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(8): Show | a0001c0001t0001g0013 a0001c0001t0006g0122 a0001c0001t0019g0042 others(9): Show |
12 | 156 | 0.0769 | -5 | c.307 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54221473 | AATTAT | A | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG03041.hp2 others(6): Show |
a0001a0007a0011others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0036a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0036g0089 a0001c0002t0001g0018 a0001c0002t0002g0082 others(6): Show |
9 | 156 | 0.0577 | -5 | c.307 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54261522 | GTTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(44): Show | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0006g0137 others(54): Show |
57 | 126 | 0.4524 | -5 | c.344 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54267277 | TAACAA | T | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03225.hp1 others(1): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0024 | a0001c0001t0036a0001c0001t0059a0001c0003t0021others(1): Show | a0001c0001t0036g0089 a0001c0001t0059g0147 a0001c0003t0021g0155 others(1): Show |
4 | 125 | 0.0320 | -5 | c.381 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 10/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54269478 | GTAAAA | G | 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 | -5 | c.381 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 10/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54296378 | TTTTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00738.hp1 others(12): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0011g0069 others(12): Show |
15 | 156 | 0.0962 | -5 | c.398 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 11/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54419827 | CTCAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01978.hp1 others(7): Show |
a0001a0002a0005 | a0001c0005a0001c0012a0001c0029others(3): Show | a0001c0005t0003a0001c0012t0017a0001c0029t0046others(3): Show | a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0005t0003g0097 others(7): Show |
10 | 156 | 0.0641 | -5 | c.493 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54470615 | TATTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp1 others(66): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(52): Show | a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0102 others(66): Show |
69 | 156 | 0.4423 | -5 | c.493 others(26): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54511372 | ATTTTC | A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01123.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0007a0001c0001t0011a0001c0001t0038others(12): Show | a0001c0001t0007g0006 a0001c0001t0007g0028 a0001c0001t0011g0150 others(13): Show |
16 | 156 | 0.1026 | -5 | c.538 others(22): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 23/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54522147 | ATAACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01169.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0015a0001c0001t0056a0001c0001t0057others(9): Show | a0001c0001t0015g0070 a0001c0001t0056g0015 a0001c0001t0057g0145 others(11): Show |
14 | 156 | 0.0897 | -5 | c.545 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54552534 | TAATTA | T | intron_variant | MODIFIER | HG02970.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0037a0001c0002t0001 | a0001c0001t0037g0158 a0001c0002t0001g0031 |
2 | 149 | 0.0134 | -5 | c.587 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 28/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54552546 | ATATTG | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025a0001c0001t0045 | a0001c0001t0011g0069 a0001c0001t0025g0003 a0001c0001t0045g0130 |
3 | 154 | 0.0195 | -5 | c.587 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54552652 | AATTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01192.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0012a0001c0032others(2): Show | a0001c0002t0008a0001c0012t0017a0001c0032t0004others(2): Show | a0001c0002t0008g0075 a0001c0012t0017g0109 a0001c0012t0017g0117 others(4): Show |
7 | 156 | 0.0449 | -5 | c.587 others(24): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13D_chr17_75822225_75849404 | 75824051 | AGGGGT | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(61): Show |
a0001a0002a0005others(3): Show | a0001c0003a0001c0015a0002c0005others(4): Show | a0001c0003t0001a0001c0015t0001a0002c0005t0001others(4): Show | a0001c0003t0001g0002 a0001c0003t0001g0012 a0001c0003t0001g0017 others(29): Show |
64 | 410 | 0.1561 | -5 | c.*39 others(16): Show |
UNC13D | ENSG00000092929.13 | transcript | ENST00000207549.9 | protein_coding | 3173 | chr17 | TogoVar | |||||||
UNC45B_chr17_35142817_35194343 | 35177840 | GTCTTT | G | intron_variant | MODIFIER | HG02698.hp1 NA18612.hp2 NA18940.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0055 others(5): Show |
10 | 432 | 0.0231 | -5 | c.225 others(22): Show |
UNC45B | ENSG00000141161.12 | transcript | ENST00000394570.7 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176806006 | GAAGGA | G | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0202 others(3): Show |
6 | 262 | 0.0229 | -5 | c.-47 others(16): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 4552 | chr5 | TogoVar |