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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYW1B_chr7_72569513_72833200 | 72667048 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01074.hp2 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0007a0001c0019a0002c0003others(4): Show | a0001c0007t0001a0001c0019t0001a0002c0003t0001others(6): Show | a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 others(39): Show |
42 | 277 | 0.1516 | 8 | c.150 others(29): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72669932 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02622.hp1 others(11): Show |
a0001a0002a0003 | a0001c0007a0002c0003a0003c0004 | a0001c0007t0001a0002c0003t0001a0003c0004t0002 | a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 others(11): Show |
14 | 107 | 0.1308 | 8 | c.150 others(29): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72672473 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0019others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0019t0001others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0060 others(59): Show |
62 | 65 | 0.9538 | 8 | c.150 others(29): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72675539 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02027.hp2 HG02080.hp2 others(12): Show |
a0001a0002a0012 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show |
15 | 73 | 0.2055 | 8 | c.150 others(29): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72733159 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG02071.hp2 others(20): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0001a0001c0006t0001a0002c0003t0001others(1): Show | a0001c0002t0001g0216 a0001c0002t0001g0222 a0001c0002t0001g0261 others(20): Show |
23 | 29 | 0.7931 | 8 | c.108 others(27): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72752732 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(91): Show |
a0001a0004a0012 | a0001c0001a0001c0007a0001c0018others(5): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(91): Show |
94 | 256 | 0.3672 | 8 | c.965 others(25): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 7/13 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67006948 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG02257.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0013t0001others(3): Show | a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0237 others(14): Show |
17 | 90 | 0.1889 | 8 | c.274 others(25): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67029382 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01257.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0002 | a0001c0002t0001g0303 a0002c0004t0002g0283 a0002c0004t0002g0302 others(2): Show |
5 | 338 | 0.0148 | 8 | c.984 others(25): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67029415 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(3): Show |
a0002a0005 | a0002c0004a0005c0010 | a0002c0004t0002a0002c0004t0004a0005c0010t0005 | a0002c0004t0002g0358 a0002c0004t0004g0287 a0002c0004t0004g0292 others(3): Show |
6 | 251 | 0.0239 | 8 | c.984 others(25): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67032885 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01496.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0021others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0021t0001others(2): Show | a0001c0001t0001g0208 a0001c0002t0003g0312 a0001c0002t0003g0320 others(20): Show |
23 | 130 | 0.1769 | 8 | c.984 others(25): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67094651 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02055.hp2 HG02083.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0009 | a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 others(14): Show |
17 | 46 | 0.3696 | 8 | c.138 others(27): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67139728 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01243.hp2 HG02056.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0096 a0001c0001t0001g0168 a0001c0001t0001g0180 others(5): Show |
8 | 93 | 0.0860 | 8 | c.169 others(29): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67149722 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00735.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0015 others(70): Show |
73 | 141 | 0.5177 | 8 | c.169 others(29): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67157963 | T | TGTAAAAC others(1): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19006.hp1 NA19080.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0002t0001g0339 |
3 | 362 | 0.0083 | 8 | c.169 others(29): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67180632 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01168.hp1 others(23): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0003t0013a0002c0004t0002 | a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0221 others(23): Show |
26 | 297 | 0.0875 | 8 | c.169 others(27): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67206622 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02155.hp2 HG03491.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0018t0001others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0111 a0001c0001t0001g0165 others(8): Show |
11 | 148 | 0.0743 | 8 | c.197 others(29): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67211150 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02165.hp1 others(5): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0004a0002c0004t0004 | a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0004t0004g0282 others(5): Show |
8 | 91 | 0.0879 | 8 | c.197 others(29): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67234348 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00738.hp2 others(28): Show |
a0002a0003 | a0002c0003a0002c0004a0002c0007others(1): Show | a0002c0003t0002a0002c0004t0002a0002c0004t0004others(2): Show | a0002c0003t0002g0005 a0002c0003t0002g0136 a0002c0003t0002g0137 others(28): Show |
31 | 300 | 0.1033 | 8 | c.197 others(27): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67235912 | A | AAGAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01106.hp1 others(22): Show |
a0002a0007 | a0002c0003a0002c0004a0002c0007others(1): Show | a0002c0003t0002a0002c0003t0013a0002c0004t0004others(2): Show | a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0210 others(22): Show |
25 | 309 | 0.0809 | 8 | c.197 others(27): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67239694 | T | TTTAGTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(78): Show |
a0002a0003a0007others(1): Show | a0002c0003a0002c0004a0002c0007others(3): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0013others(6): Show | a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 others(78): Show |
81 | 362 | 0.2238 | 8 | c.*11 others(19): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 181 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67241362 | A | ACACTAGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(78): Show |
a0002a0003a0007others(1): Show | a0002c0003a0002c0004a0002c0007others(3): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0013others(6): Show | a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 others(78): Show |
81 | 362 | 0.2238 | 8 | c.*28 others(19): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 1849 | chr7 | TogoVar | |||||||
TYW3_chr1_74728152_74771677 | 74748142 | G | GACAACTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 others(109): Show |
231 | 330 | 0.7000 | 8 | c.355 others(23): Show |
TYW3 | ENSG00000162623.16 | transcript | ENST00000370867.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70679402 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(130): Show |
a0001a0003a0009others(4): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0018 others(126): Show |
133 | 145 | 0.9172 | 8 | c.891 others(23): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 10/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70700301 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02895.hp2 HG03098.hp1 |
a0005 | a0005c0009a0005c0012 | a0005c0009t0004a0005c0012t0004 | a0005c0009t0004g0254 a0005c0009t0004g0256 a0005c0012t0004g0255 |
3 | 261 | 0.0115 | 8 | c.79- others(21): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70712051 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01346.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003a0001c0004t0014others(1): Show | a0001c0004t0001g0015 a0001c0004t0001g0122 a0001c0004t0003g0258 others(13): Show |
16 | 260 | 0.0615 | 8 | c.79- others(25): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718028 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG04204.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0017a0001c0004t0001a0001c0004t0003 | a0001c0003t0017g0045 a0001c0004t0001g0015 a0001c0004t0003g0261 |
3 | 188 | 0.0160 | 8 | c.79- others(25): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718324 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG01070.hp2 others(30): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0116 others(28): Show |
33 | 49 | 0.6735 | 8 | c.79- others(25): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70744821 | A | AGTCAGGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp2 others(75): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(17): Show | a0001c0001t0001g0036 a0001c0001t0001g0213 a0001c0001t0001g0214 others(75): Show |
78 | 308 | 0.2532 | 8 | c.78+ others(25): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67628518 | C | CAGCTCCA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(72): Show |
a0002a0003a0004 | a0002c0003a0002c0004a0002c0010others(4): Show | a0002c0003t0002a0002c0003t0006a0002c0003t0014others(14): Show | a0002c0003t0002g0003 a0002c0003t0002g0016 a0002c0003t0002g0018 others(63): Show |
75 | 322 | 0.2329 | 8 | c.240 others(25): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 27/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67637935 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(13): Show | a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0110 others(52): Show |
63 | 118 | 0.5339 | 8 | c.173 others(27): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67670837 | A | AATTCCAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001 | a0001c0002a0001c0007a0001c0008 | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(17): Show | a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0024 others(70): Show |
79 | 322 | 0.2453 | 8 | c.547 others(23): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 7/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67686933 | A | AACAGCAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001 | a0001c0002a0001c0007a0001c0008 | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(17): Show | a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0024 others(70): Show |
79 | 322 | 0.2453 | 8 | c.135 others(25): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67703465 | A | ACTAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG01928.hp2 HG01934.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0028 | a0001c0001t0001g0013 a0001c0001t0015g0097 a0001c0001t0015g0108 others(2): Show |
5 | 322 | 0.0155 | 8 | c.-23 others(19): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2311 | chr4 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99203023 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
122 | 222 | 0.5496 | 8 | c.31+ others(23): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99216078 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0303 a0001c0001t0001g0304 others(1): Show |
4 | 345 | 0.0116 | 8 | c.31+ others(25): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99237265 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18961.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0105 a0001c0001t0001g0286 a0001c0001t0004g0294 |
3 | 300 | 0.0100 | 8 | c.32- others(23): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99237269 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02523.hp2 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0033 others(3): Show |
6 | 264 | 0.0227 | 8 | c.32- others(23): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99237271 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0024 others(10): Show |
13 | 129 | 0.1008 | 8 | c.32- others(23): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99262710 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG01257.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 others(15): Show |
18 | 56 | 0.3214 | 8 | c.389 others(27): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99305886 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0278 a0001c0001t0001g0279 others(1): Show |
4 | 341 | 0.0117 | 8 | c.390 others(25): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99330458 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(199): Show |
204 | 219 | 0.9315 | 8 | c.562 others(25): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99368688 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG01433.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(16): Show |
19 | 74 | 0.2568 | 8 | c.927 others(23): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99387368 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00639.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(31): Show |
34 | 49 | 0.6939 | 8 | c.*20 others(19): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 865 | chr13 | TogoVar | |||||||
UBAP1L_chr15_65087760_65120200 | 65108752 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03579.hp1 NA18966.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0012t0002others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0102 a0001c0001t0001g0103 others(3): Show |
6 | 70 | 0.0857 | 8 | c.-17 others(27): Show |
UBAP1L | ENSG00000246922.10 | transcript | ENST00000559089.6 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34181116 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG01169.hp2 others(18): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0155 a0001c0001t0002g0247 a0001c0001t0002g0249 others(18): Show |
21 | 83 | 0.2530 | 8 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182160 | G | GTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0169 others(12): Show |
15 | 244 | 0.0615 | 8 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182200 | A | ATTTATTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01891.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0267 others(4): Show |
7 | 112 | 0.0625 | 8 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182616 | C | CTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01256.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0010 a0001c0001t0003g0211 a0001c0001t0003g0212 others(2): Show |
5 | 260 | 0.0192 | 8 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182677 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01361.hp1 NA18951.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0094 others(2): Show |
5 | 252 | 0.0198 | 8 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182681 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA18988.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0239 others(3): Show |
6 | 133 | 0.0451 | 8 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |