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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN10_chr22_45666834_45850307 | 45795354 | GATTCTAT others(13): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 121 | 0.0083 | -20 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45819192 | AAATAGAA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0024 others(67): Show |
71 | 114 | 0.6228 | -20 | c.123 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483188 | AACACATA others(13): Show |
A | intron_variant | MODIFIER | NA18969.hp1 NA19070.hp2 NA19091.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0195 a0001c0003t0001g0196 a0002c0002t0001g0094 |
3 | 194 | 0.0155 | -20 | c.252 others(39): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619522 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019 | a0001c0001t0006g0158 a0001c0001t0019g0247 |
2 | 242 | 0.0083 | -20 | c.151 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619524 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 236 | 0.0042 | -20 | c.151 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105628792 | CAAATAAA others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0059 others(15): Show |
18 | 99 | 0.1818 | -20 | c.120 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662019 | TTTCTTTC others(13): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03130.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0023g0134 |
3 | 227 | 0.0132 | -20 | c.578 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105860128 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0213 | 1 | 93 | 0.0108 | -20 | c.250 others(39): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74533856 | AAATAAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0000 | 1 | 389 | 0.0026 | -20 | c.-42 others(31): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 3978 | chr12 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74533864 | ATAAAAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0000 | 1 | 405 | 0.0025 | -20 | c.-42 others(31): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 3970 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63964073 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0006 | a0004c0006t0042 | a0004c0006t0042g0071 | 1 | 69 | 0.0145 | -20 | c.499 others(39): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69689640 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00741.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0001g0074 others(19): Show |
22 | 31 | 0.7097 | -20 | c.309 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0072 a0001c0001t0025g0050 |
2 | 7 | 0.2857 | -20 | c.310 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69886763 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0011 | a0003c0011t0007 | a0003c0011t0007g0004 | 1 | 19 | 0.0526 | -20 | c.310 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69926441 | GTCTGTCT others(13): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01433.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(10): Show |
13 | 59 | 0.2203 | -20 | c.522 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69946557 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02630.hp2 HG03239.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0008 | a0001c0001t0001g0036 a0001c0001t0003g0035 a0001c0003t0008g0069 |
3 | 4 | 0.7500 | -20 | c.522 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70043547 | CCCTTCCT others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 |
3 | 30 | 0.1000 | -20 | c.523 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70224331 | GTACAATA others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0006g0038 others(12): Show |
15 | 25 | 0.6000 | -20 | c.660 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70249874 | AAATATTT others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(10): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(15): Show |
18 | 76 | 0.2368 | -20 | c.660 others(41): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70377325 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02258.hp2 HG02647.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0072 others(3): Show |
6 | 17 | 0.3529 | -20 | c.661 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70410398 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(3): Show | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 others(6): Show |
9 | 27 | 0.3333 | -20 | c.661 others(39): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70796445 | ATTTTTTT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0005g0005 others(7): Show |
10 | 11 | 0.9091 | -20 | c.*54 others(31): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2940 | chr7 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33931349 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03225.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0028 a0001c0001t0006g0023 a0001c0001t0006g0026 |
3 | 5 | 0.6000 | -20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933518 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0016 | 1 | 251 | 0.0040 | -20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933520 | CACACAGA others(13): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG03540.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0002g0199 others(1): Show |
4 | 170 | 0.0235 | -20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | CAGAGAGA others(13): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0021 | 1 | 188 | 0.0053 | -20 | c.446 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33956543 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 others(3): Show |
6 | 264 | 0.0227 | -20 | c.445 others(39): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34038609 | CCGCCACC others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(99): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(99): Show |
102 | 264 | 0.3864 | -20 | c.267 others(35): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0005 | a0002c0005t0021a0002c0005t0049a0002c0005t0052 | a0002c0005t0021g0314 a0002c0005t0049g0315 a0002c0005t0052g0323 |
3 | 4 | 0.7500 | -20 | c.94- others(35): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0014 a0002c0002t0002g0001 |
2 | 172 | 0.0116 | -20 | c.287 others(35): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138005 | TCCTCCCT others(13): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0062 | 1 | 444 | 0.0023 | -20 | c.*93 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4753 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138047 | CTCCCTCC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 441 | 0.0023 | -20 | c.*92 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4711 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138051 | CTCCCTCC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01123.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0004g0034 others(8): Show |
26 | 436 | 0.0596 | -20 | c.*92 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4707 | chr12 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63138055 | CTCCCTCC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02886.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0020 | a0001c0001t0007g0012 a0002c0003t0020g0037 |
3 | 421 | 0.0071 | -20 | c.*92 others(31): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4703 | chr12 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | TTGTGTGT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 111 | 0.0090 | -20 | c.-51 others(31): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179421035 | CCCTTCCT others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0001 | a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 others(1): Show |
4 | 47 | 0.0851 | -20 | c.123 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179421367 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0292 | 1 | 60 | 0.0167 | -20 | c.123 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179489232 | AAAGAATT others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(12): Show |
a0003a0008a0009others(1): Show | a0003c0004a0008c0012a0009c0013others(1): Show | a0003c0004t0001a0008c0012t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(12): Show |
15 | 354 | 0.0424 | -20 | c.209 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179538873 | CTCCTGTA others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01109.hp2 others(2): Show |
a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 others(2): Show |
5 | 354 | 0.0141 | -20 | c.303 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65564088 | TCACACAC others(13): Show |
T | upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 110 | 0.0091 | -20 | c.-27 others(31): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41235369 | AATAGATA others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00738.hp1 others(99): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0096 a0001c0001t0002g0189 a0001c0001t0003g0275 others(97): Show |
102 | 153 | 0.6667 | -20 | c.784 others(37): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102822170 | TCACACAC others(13): Show |
T | downstream_gene_variant | MODIFIER | NA18957.hp1 NA18968.hp2 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0076 a0001c0001t0001g0096 |
4 | 64 | 0.0625 | -20 | c.*63 others(31): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4137 | chr8 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167369061 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0068 others(63): Show |
66 | 70 | 0.9429 | -20 | c.-51 others(41): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167588826 | CTTCCTTC others(13): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01255.hp2 HG02004.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0068 others(12): Show |
15 | 115 | 0.1304 | -20 | c.-40 others(41): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167625942 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0006g0106 a0001c0001t0007g0102 a0001c0001t0008g0080 others(4): Show |
7 | 38 | 0.1842 | -20 | c.-40 others(41): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39623201 | TCCTCCCT others(13): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01081.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(24): Show | a0001c0001t0001g0021 a0001c0001t0002g0282 a0001c0001t0002g0290 others(28): Show |
31 | 225 | 0.1378 | -20 | c.-39 others(41): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639339 | TTTCTTTC others(13): Show |
T | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 329 | 0.0030 | -20 | c.-39 others(39): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639398 | CTTTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0005 | 1 | 281 | 0.0036 | -20 | c.-39 others(39): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17799778 | AGGGGTAT others(13): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0008 | a0008c0010 | a0008c0010t0006 | a0008c0010t0006g0151 | 1 | 404 | 0.0025 | -20 | c.-51 others(37): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17803275 | GGATTACA others(13): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 404 | 0.0025 | -20 | c.-50 others(37): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |