| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0293 | 1 | 322 | 0.0031 | -20 | c.589 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
| ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(102): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0081a0001c0001t0001g0087a0001c0001t0001g0088others(102): Show | 105 | 316 | 0.3323 | -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 | 45795354 | GATTCTAT others(13): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 316 | 0.0032 | -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 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0025others(68): Show | 71 | 316 | 0.2247 | -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 | a0001c0003t0001g0180a0001c0003t0001g0181a0002c0002t0001g0074 | 3 | 298 | 0.0101 | -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 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0159a0001c0001t0023g0247 | 2 | 252 | 0.0079 | -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 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 252 | 0.0040 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0059others(15): Show | 18 | 252 | 0.0714 | -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 | a0001c0001t0003a0001c0001t0008a0001c0001t0027 | a0001c0001t0003g0070a0001c0001t0008g0075a0001c0001t0027g0134 | 3 | 252 | 0.0119 | -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 | a0001c0001t0017 | a0001c0001t0017g0213 | 1 | 252 | 0.0040 | -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 | 408 | 0.0025 | -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 | 408 | 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 | a0004c0006t0064 | a0004c0006t0064g0142 | 1 | 300 | 0.0033 | -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 |
a0001a0004 | a0001c0001a0001c0008a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0044a0001c0001t0001g0073a0001c0001t0001g0074others(19): Show | 22 | 76 | 0.2895 | -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 | a0001c0001t0003g0076a0001c0001t0025g0050 | 2 | 76 | 0.0263 | -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 | a0005 | a0005c0011 | a0005c0011t0007 | a0005c0011t0007g0004 | 1 | 76 | 0.0132 | -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 |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(10): Show | 13 | 76 | 0.1711 | -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 | a0001c0001t0001g0037a0001c0001t0003g0035a0001c0003t0008g0069 | 3 | 76 | 0.0395 | -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 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0003g0068 | 3 | 76 | 0.0395 | -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 | a0001c0001t0005g0012a0001c0001t0005g0015a0001c0001t0006g0038others(12): Show | 15 | 76 | 0.1974 | -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 | a0001c0001t0005g0005a0001c0001t0005g0012a0001c0001t0005g0015others(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 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0003g0076others(3): Show | 6 | 76 | 0.0790 | -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 | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0074others(6): Show | 9 | 76 | 0.1184 | -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 | a0001c0001t0002g0052a0001c0001t0002g0067a0001c0001t0005g0005others(7): Show | 10 | 76 | 0.1316 | -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 | a0001c0001t0001g0128a0001c0001t0006g0123a0001c0001t0006g0126 | 3 | 266 | 0.0113 | -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 | 266 | 0.0038 | -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 | a0001c0001t0001g0160a0001c0001t0001g0188a0001c0001t0002g0056others(1): Show | 4 | 266 | 0.0150 | -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 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0022 | 1 | 266 | 0.0038 | -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 | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0144others(3): Show | 6 | 266 | 0.0226 | -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(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(99): Show | 102 | 266 | 0.3835 | -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 |
a0003 | a0003c0005 | a0003c0005t0023a0003c0005t0063a0003c0005t0066 | a0003c0005t0023g0317a0003c0005t0063g0318a0003c0005t0066g0326 | 3 | 330 | 0.0091 | -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 | a0001c0001t0001g0166a0002c0002t0002g0108 | 2 | 446 | 0.0045 | -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 | a0002c0003t0033g0064 | 1 | 448 | 0.0022 | -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 | 448 | 0.0022 | -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 | a0001c0001t0002g0002a0001c0001t0004g0005a0001c0001t0004g0035others(8): Show | 26 | 448 | 0.0580 | -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 | a0001c0001t0007g0012a0002c0003t0020g0038 | 3 | 448 | 0.0067 | -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 | 396 | 0.0025 | -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 | a0001c0006t0001g0197a0001c0006t0001g0198a0001c0006t0001g0199others(1): Show | 4 | 356 | 0.0112 | -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 | a0002c0001t0001g0294 | 1 | 356 | 0.0028 | -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 | a0003c0004t0001g0173a0003c0004t0001g0177a0003c0004t0001g0179others(12): Show | 15 | 356 | 0.0421 | -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 | a0008c0012t0001g0168a0008c0012t0001g0169a0008c0012t0001g0170others(2): Show | 5 | 356 | 0.0140 | -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 | a0001c0002t0001g0018 | 1 | 402 | 0.0025 | -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 |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0099a0001c0001t0002g0194a0001c0001t0003g0280others(97): Show | 102 | 314 | 0.3248 | -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 | a0001c0001t0001g0001a0001c0001t0001g0078a0001c0001t0001g0094 | 4 | 380 | 0.0105 | -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(29): Show | a0001c0001t0001g0046a0001c0001t0001g0062a0001c0001t0001g0068others(63): Show | 66 | 118 | 0.5593 | -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 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0068others(12): Show | 15 | 118 | 0.1271 | -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 | a0001c0001t0006g0106a0001c0001t0007g0102a0001c0001t0008g0080others(4): Show | 7 | 118 | 0.0593 | -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 | a0001c0001t0001g0015a0001c0001t0002g0293a0001c0001t0002g0301others(28): Show | 31 | 336 | 0.0923 | -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 | a0001c0001t0001g0068 | 1 | 336 | 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 | a0001c0001t0062g0084 | 1 | 336 | 0.0030 | -20 | c.-39 others(39): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |