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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNC5D_chr8_35230475_35801540 | 35695710 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0002t0007a0001c0002t0009others(2): Show | a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0007g0003 others(3): Show |
6 | 25 | 0.2400 | -12 | c.108 others(31): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35719141 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG02922.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003a0001c0003t0014 | a0001c0001t0001g0032 a0001c0003t0003g0008 a0001c0003t0014g0040 |
3 | 9 | 0.3333 | -12 | c.111 others(31): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35731399 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG02129.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0042 others(11): Show |
14 | 30 | 0.4667 | -12 | c.176 others(29): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35789137 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003 | a0001c0002t0001g0021 a0001c0003t0003g0022 |
2 | 10 | 0.2000 | -12 | c.265 others(31): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93467628 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0050 |
2 | 9 | 0.2222 | -12 | c.23- others(23): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93479172 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01516.hp1 HG01517.hp1 others(3): Show |
a0001 | a0001c0002a0001c0006a0001c0009 | a0001c0002t0001a0001c0006t0001a0001c0009t0001 | a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0187 others(3): Show |
6 | 55 | 0.1091 | -12 | c.619 others(29): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 4/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93485184 | ATGTATAT others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02572.hp2 HG03471.hp1 others(4): Show |
a0001a0002a0005 | a0001c0009a0001c0016a0002c0017others(1): Show | a0001c0009t0001a0001c0016t0001a0002c0017t0001others(1): Show | a0001c0009t0001g0018 a0001c0009t0001g0019 a0001c0016t0001g0020 others(4): Show |
7 | 192 | 0.0365 | -12 | c.620 others(29): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 4/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93558593 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01496.hp1 HG01496.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0044a0002c0003others(5): Show | a0001c0006t0001a0001c0044t0001a0002c0003t0001others(5): Show | a0001c0006t0001g0173 a0001c0006t0001g0174 a0001c0044t0001g0088 others(7): Show |
10 | 12 | 0.8333 | -12 | c.175 others(33): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 14/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93614299 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001a0009 | a0001c0002a0001c0021a0001c0041others(2): Show | a0001c0002t0001a0001c0021t0001a0001c0041t0001others(2): Show | a0001c0002t0001g0170 a0001c0021t0001g0190 a0001c0021t0001g0192 others(3): Show |
6 | 72 | 0.0833 | -12 | c.410 others(31): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 28/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93660520 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG01975.hp1 others(8): Show |
a0001a0002a0003 | a0001c0011a0001c0016a0001c0023others(3): Show | a0001c0011t0001a0001c0016t0001a0001c0023t0001others(3): Show | a0001c0011t0001g0151 a0001c0011t0001g0156 a0001c0016t0001g0020 others(8): Show |
11 | 80 | 0.1375 | -12 | c.685 others(31): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 42/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93660563 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG06807.hp2 |
a0001 | a0001c0006a0001c0034 | a0001c0006t0001a0001c0034t0001 | a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0034t0001g0009 |
3 | 119 | 0.0252 | -12 | c.685 others(31): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 42/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93667240 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0048 a0001c0002t0001g0017 a0001c0011t0001g0151 others(4): Show |
7 | 192 | 0.0365 | -12 | c.696 others(31): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209786980 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01069.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0136 others(17): Show |
20 | 25 | 0.8000 | -12 | c.724 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 5/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209791819 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0010a0001c0003t0006others(4): Show | a0001c0001t0001g0066 a0001c0002t0010g0051 a0001c0003t0006g0020 others(4): Show |
7 | 23 | 0.3043 | -12 | c.799 others(29): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 6/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209844468 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0112 | 1 | 171 | 0.0058 | -12 | c.345 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209844472 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01255.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0130 others(7): Show |
10 | 161 | 0.0621 | -12 | c.345 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209844476 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01981.hp1 HG02683.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0007a0001c0004t0001a0001c0009t0001others(3): Show | a0001c0001t0007g0095 a0001c0004t0001g0081 a0001c0009t0001g0025 others(3): Show |
6 | 135 | 0.0444 | -12 | c.345 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209856761 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0050 | 1 | 134 | 0.0075 | -12 | c.362 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 22/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209866523 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02040.hp2 |
a0001a0003 | a0001c0001a0003c0049a0003c0050 | a0001c0001t0001a0003c0049t0002a0003c0050t0002 | a0001c0001t0001g0132 a0003c0049t0002g0131 a0003c0050t0002g0126 |
3 | 186 | 0.0161 | -12 | c.362 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 22/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209883426 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0047 | a0001c0047t0002 | a0001c0047t0002g0003 | 1 | 120 | 0.0083 | -12 | c.411 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 25/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209922792 | AGTTTTTG others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0038 | 1 | 169 | 0.0059 | -12 | c.566 others(29): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209955692 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA19066.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0032 | a0001c0001t0003a0001c0032t0003 | a0001c0001t0003g0021 a0001c0001t0003g0170 a0001c0032t0003g0174 |
3 | 93 | 0.0323 | -12 | c.745 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 48/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209955736 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0038 | 1 | 173 | 0.0058 | -12 | c.745 others(31): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 48/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167286977 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 | 1 | 96 | 0.0104 | -12 | c.-45 others(23): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4337 | chr6 | TogoVar | |||||||
UNC93A_chr6_167286315_167321014 | 167287718 | TGTGTGTG others(5): Show |
T | upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 446 | 0.0022 | -12 | c.-37 others(23): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3596 | chr6 | TogoVar | |||||||
UNC93A_chr6_167286315_167321014 | 167288449 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(73): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0001c0036others(10): Show | a0001c0001t0001a0001c0001t0011a0001c0013t0001others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0053 others(56): Show |
76 | 102 | 0.7451 | -12 | c.-30 others(23): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2865 | chr6 | TogoVar | |||||||
UNC93A_chr6_167286315_167321014 | 167319802 | CATCAAGA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(153): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0023a0001c0036others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 others(124): Show |
156 | 446 | 0.3498 | -12 | c.*43 others(23): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3789 | chr6 | TogoVar | |||||||
UNC93B1_chr11_67986100_68009097 | 67992679 | TTGGAAGA others(5): Show |
T | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0190 | 1 | 368 | 0.0027 | -12 | c.148 others(29): Show |
UNC93B1 | ENSG00000110057.9 | transcript | ENST00000227471.7 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
UNCX_chr7_1227872_1242326 | 1230242 | CGGGGGAG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG02056.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(1): Show |
8 | 399 | 0.0201 | -12 | c.-27 others(23): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 2629 | chr7 | TogoVar | |||||||
UNCX_chr7_1227872_1242326 | 1230261 | GGGGCGCG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 404 | 0.0025 | -12 | c.-27 others(23): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 2610 | chr7 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109101106 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0290 | 1 | 23 | 0.0435 | -12 | c.436 others(27): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1367483 | GCCCTCCC others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0012a0001c0013 | a0001c0001t0029a0001c0012t0053a0001c0013t0030 | a0001c0001t0029g0061 a0001c0012t0053g0015 a0001c0013t0030g0013 others(1): Show |
4 | 33 | 0.1212 | -12 | c.178 others(29): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 13/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1415969 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02922.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0026a0001c0001t0071 | a0001c0001t0021g0306 a0001c0001t0021g0307 a0001c0001t0021g0308 others(2): Show |
5 | 120 | 0.0417 | -12 | c.-12 others(23): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 1266 | chr16 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75809084 | CGGCGGGG others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02080.hp1 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 others(2): Show |
8 | 356 | 0.0225 | -12 | c.105 others(27): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24493175 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(166): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(142): Show |
169 | 308 | 0.5487 | -12 | c.-22 others(23): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 2156 | chr22 | TogoVar | |||||||
UPB1_chr22_24490332_24533390 | 24496392 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01346.hp1 HG02572.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0246 a0001c0001t0004g0244 a0001c0001t0005g0241 others(9): Show |
13 | 350 | 0.0371 | -12 | c.104 others(27): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24509361 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01243.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0233 others(4): Show |
9 | 66 | 0.1364 | -12 | c.365 others(29): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24513906 | TCTGTGGA others(5): Show |
T | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 350 | 0.0029 | -12 | c.621 others(27): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 5/9 | chr22 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18829607 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03492.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0003 a0001c0001t0011g0001 |
2 | 390 | 0.0051 | -12 | c.-26 others(23): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2351 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18829619 | GTATATAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0151 a0001c0001t0003g0095 |
2 | 161 | 0.0124 | -12 | c.-25 others(23): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2339 | chr19 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11916733 | TCAAACAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0109 a0001c0001t0001g0153 a0001c0001t0001g0184 others(34): Show |
37 | 288 | 0.1285 | -12 | c.*45 others(23): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 3288 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11938842 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp2 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0114 a0001c0004t0007g0115 |
2 | 312 | 0.0064 | -12 | c.337 others(31): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 18/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11938853 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0332 a0001c0001t0002g0014 a0001c0001t0002g0018 others(45): Show |
48 | 110 | 0.4364 | -12 | c.337 others(31): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 18/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11994975 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0008others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0215 a0001c0001t0001g0216 others(4): Show |
7 | 119 | 0.0588 | -12 | c.184 others(31): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 8/21 | chr10 | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35670674 | TTCCCTCC others(5): Show |
T | intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 323 | 0.0031 | -12 | c.285 others(29): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119175012 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0195 | 1 | 12 | 0.0833 | -12 | c.-29 others(29): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179352 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0073 others(3): Show |
6 | 211 | 0.0284 | -12 | c.-29 others(29): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179387 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA18975.hp2 NA19012.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0292 a0001c0001t0001g0294 a0003c0003t0003g0293 |
3 | 420 | 0.0071 | -12 | c.-29 others(29): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01168.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0212 others(9): Show |
14 | 40 | 0.3500 | -12 | c.-29 others(29): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119209923 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(94): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(83): Show |
97 | 336 | 0.2887 | -12 | c.*59 others(23): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 4781 | chr3 | TogoVar |