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 | 35442902 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0009 | a0001c0001t0010g0064 a0001c0002t0009g0063 |
2 | 58 | 0.0345 | -8 | c.104 others(29): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35442904 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG03209.hp2 HG03688.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0005 | a0001c0001t0001g0013 a0001c0001t0002g0057 a0001c0003t0005g0048 |
3 | 44 | 0.0682 | -8 | c.104 others(29): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35512465 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03225.hp1 HG03453.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0006a0001c0002t0001a0002c0005t0018 | a0001c0001t0006g0010 a0001c0002t0001g0020 a0002c0005t0018g0054 |
3 | 15 | 0.2000 | -8 | c.104 others(27): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35538395 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0059 a0001c0003t0003g0022 |
2 | 10 | 0.2000 | -8 | c.104 others(27): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35555875 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 HG03486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0052 others(3): Show |
6 | 7 | 0.8571 | -8 | c.322 others(25): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35593046 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0006 | a0001c0001t0025g0026 a0001c0002t0006g0055 |
2 | 25 | 0.0800 | -8 | c.467 others(25): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35695710 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0005a0001c0003t0011others(1): Show | a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0003t0005g0033 others(4): Show |
7 | 26 | 0.2692 | -8 | c.108 others(27): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35719141 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0024a0001c0003t0005a0001c0003t0011 | a0001c0002t0024g0027 a0001c0003t0005g0041 a0001c0003t0005g0048 others(1): Show |
4 | 10 | 0.4000 | -8 | c.111 others(27): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35719180 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0023 | a0001c0003t0005g0033 a0001c0003t0023g0005 |
2 | 64 | 0.0313 | -8 | c.111 others(27): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 8/16 | chr8 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35789137 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0017 | a0001c0001t0001g0001 a0002c0005t0017g0030 |
2 | 10 | 0.2000 | -8 | c.265 others(27): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93443223 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0002a0001c0019 | a0001c0002t0001a0001c0019t0001 | a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 others(5): Show |
8 | 78 | 0.1026 | -8 | c.22+ others(25): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93479172 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG02109.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0009a0001c0016others(4): Show | a0001c0002t0001a0001c0009t0001a0001c0016t0001others(4): Show | a0001c0002t0001g0186 a0001c0009t0001g0008 a0001c0016t0001g0188 others(9): Show |
12 | 61 | 0.1967 | -8 | c.619 others(25): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 4/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93513215 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(70): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0020a0001c0028others(11): Show | a0001c0001t0001a0001c0020t0001a0001c0028t0001others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(70): Show |
73 | 192 | 0.3802 | -8 | c.899 others(27): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 7/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93536782 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0042 others(12): Show |
15 | 101 | 0.1485 | -8 | c.112 others(27): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 11/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93598365 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG02135.hp1 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0039 others(6): Show |
9 | 77 | 0.1169 | -8 | c.337 others(25): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 24/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93599353 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02895.hp2 others(2): Show |
a0001a0009 | a0001c0009a0001c0021a0001c0041others(1): Show | a0001c0009t0001a0001c0021t0001a0001c0041t0001others(1): Show | a0001c0009t0001g0008 a0001c0021t0001g0190 a0001c0021t0001g0192 others(2): Show |
5 | 57 | 0.0877 | -8 | c.337 others(27): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 24/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93614299 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0050 others(8): Show |
11 | 77 | 0.1429 | -8 | c.410 others(27): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 28/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93660520 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG02572.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0006 a0001c0002t0001g0165 a0001c0005t0001g0110 others(9): Show |
12 | 81 | 0.1481 | -8 | c.685 others(27): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 42/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93660563 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG03225.hp1 |
a0001 | a0001c0009a0001c0020 | a0001c0009t0001a0001c0020t0001 | a0001c0009t0001g0191 a0001c0020t0001g0083 |
2 | 118 | 0.0169 | -8 | c.685 others(27): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 42/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93689487 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0050 others(4): Show |
7 | 86 | 0.0814 | -8 | c.741 others(25): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 47/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209786980 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01981.hp2 HG02040.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0070 a0001c0001t0002g0072 a0001c0002t0002g0069 others(4): Show |
7 | 12 | 0.5833 | -8 | c.724 others(23): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 5/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209844472 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0067 a0001c0001t0001g0133 a0001c0001t0001g0136 others(4): Show |
7 | 158 | 0.0443 | -8 | c.345 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209844476 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp1 HG02109.hp1 HG02258.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0003a0001c0003t0006a0001c0015t0001others(3): Show | a0001c0001t0003g0145 a0001c0001t0003g0168 a0001c0001t0003g0169 others(6): Show |
9 | 138 | 0.0652 | -8 | c.345 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209856761 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(37): Show |
a0001a0005a0006others(4): Show | a0001c0005a0001c0006a0001c0007others(20): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0007others(27): Show | a0001c0005t0001g0075 a0001c0005t0001g0108 a0001c0005t0001g0187 others(37): Show |
40 | 173 | 0.2312 | -8 | c.362 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 22/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209866533 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03209.hp2 others(1): Show |
a0001a0013a0014 | a0001c0007a0001c0026a0013c0027others(1): Show | a0001c0007t0001a0001c0026t0006a0013c0027t0001others(1): Show | a0001c0007t0001g0034 a0001c0026t0006g0033 a0013c0027t0001g0032 others(1): Show |
4 | 130 | 0.0308 | -8 | c.362 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 22/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209902904 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02258.hp1 others(12): Show |
a0001a0005a0006others(1): Show | a0001c0005a0001c0006a0001c0009others(8): Show | a0001c0005t0001a0001c0006t0001a0001c0009t0001others(9): Show | a0001c0005t0001g0075 a0001c0006t0001g0001 a0001c0009t0001g0024 others(12): Show |
15 | 58 | 0.2586 | -8 | c.458 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209931364 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01934.hp2 HG02622.hp1 others(4): Show |
a0001a0011a0013others(1): Show | a0001c0001a0001c0021a0001c0026others(4): Show | a0001c0001t0002a0001c0021t0015a0001c0026t0006others(4): Show | a0001c0001t0002g0129 a0001c0021t0015g0093 a0001c0026t0006g0033 others(4): Show |
7 | 46 | 0.1522 | -8 | c.599 others(25): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 38/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209938676 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001a0013a0014 | a0001c0001a0001c0026a0001c0029others(2): Show | a0001c0001t0003a0001c0026t0006a0001c0029t0001others(2): Show | a0001c0001t0003g0178 a0001c0026t0006g0033 a0001c0029t0001g0045 others(2): Show |
5 | 31 | 0.1613 | -8 | c.646 others(25): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 42/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209938704 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
a0001a0006 | a0001c0009a0001c0010a0006c0017 | a0001c0009t0001a0001c0009t0018a0001c0010t0001others(3): Show | a0001c0009t0001g0024 a0001c0009t0001g0025 a0001c0009t0018g0002 others(5): Show |
8 | 186 | 0.0430 | -8 | c.646 others(25): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 42/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209955692 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(13): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0133 a0001c0001t0002g0116 a0001c0001t0002g0117 others(13): Show |
16 | 106 | 0.1509 | -8 | c.745 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 48/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167288449 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(68): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0105 others(59): Show |
71 | 97 | 0.7320 | -8 | c.-30 others(19): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2865 | chr6 | TogoVar | |||||||
UNC93A_chr6_167286315_167321014 | 167299131 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG02145.hp2 others(11): Show |
a0008a0015 | a0008c0007a0015c0018 | a0008c0007t0005a0015c0018t0005 | a0008c0007t0005g0005 a0008c0007t0005g0010 a0008c0007t0005g0020 others(6): Show |
14 | 297 | 0.0471 | -8 | c.625 others(25): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109093546 | AGCCGGGC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03209.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0016g0290 |
3 | 450 | 0.0067 | -8 | c.-41 others(19): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 4050 | chr12 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1367483 | GCCCTCCC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(265): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0032 others(263): Show |
268 | 297 | 0.9024 | -8 | c.178 others(25): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 13/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1391160 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 HG03486.hp2 |
a0001a0002 | a0001c0027a0002c0002 | a0001c0027t0019a0002c0002t0001 | a0001c0027t0019g0184 a0002c0002t0001g0166 a0002c0002t0001g0167 |
3 | 14 | 0.2143 | -8 | c.102 others(25): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 8/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1391239 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03225.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0070 | a0001c0001t0032g0063 a0001c0001t0032g0064 a0001c0001t0070g0065 |
3 | 27 | 0.1111 | -8 | c.102 others(25): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 8/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1400417 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp1 others(55): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0027a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0002g0089 others(55): Show |
58 | 59 | 0.9831 | -8 | c.599 others(23): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 4/14 | chr16 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75802242 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01167.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0003g0187 a0001c0001t0008g0118 a0001c0001t0008g0267 others(24): Show |
27 | 34 | 0.7941 | -8 | c.105 others(25): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UNK_chr17_75779806_75830799 | 75805810 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00735.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0188 a0001c0001t0003g0028 a0001c0001t0003g0031 others(50): Show |
55 | 150 | 0.3667 | -8 | c.105 others(25): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24496396 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03195.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0022a0001c0003t0016others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0242 a0001c0001t0004g0245 others(4): Show |
7 | 350 | 0.0200 | -8 | c.104 others(23): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPF1_chr19_18826959_18873230 | 18829287 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0007t0001g0164 |
3 | 392 | 0.0077 | -8 | c.-29 others(19): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2671 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18829611 | ATATATAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02523.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0027 others(4): Show |
7 | 390 | 0.0179 | -8 | c.-25 others(19): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2347 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18829619 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG00741.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(22): Show |
38 | 197 | 0.1929 | -8 | c.-25 others(19): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2339 | chr19 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11915372 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01943.hp1 HG01978.hp1 HG02004.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0102 a0001c0001t0001g0185 a0001c0002t0001g0295 others(3): Show |
6 | 24 | 0.2500 | -8 | c.*59 others(19): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 4649 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11916733 | TCAAACAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01516.hp1 HG01517.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0322 a0001c0001t0001g0332 others(13): Show |
16 | 267 | 0.0599 | -8 | c.*45 others(19): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 3288 | chr10 | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35676171 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(43): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0003others(1): Show | a0001c0001t0001a0003c0004t0001a0004c0003t0001others(1): Show | a0001c0001t0001g0206 a0003c0004t0001g0008 a0003c0004t0001g0161 others(21): Show |
46 | 386 | 0.1192 | -8 | c.648 others(23): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119175012 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(86): Show |
94 | 105 | 0.8952 | -8 | c.-29 others(25): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179352 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01074.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0003 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0145 others(13): Show |
17 | 222 | 0.0766 | -8 | c.-29 others(25): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 others(41): Show |
44 | 70 | 0.6286 | -8 | c.-29 others(25): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119208801 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(111): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0015 others(104): Show |
114 | 228 | 0.5000 | -8 | c.*48 others(19): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 3659 | chr3 | TogoVar |