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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01123.hp2 others(20): Show |
a0001a0003a0012 | a0001c0001a0003c0004a0012c0014 | a0001c0001t0002a0001c0001t0006a0003c0004t0008others(1): Show | a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0236 others(20): Show |
23 | 100 | 0.2300 | 17 | c.251 others(34): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03225.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0051 | a0001c0001t0006g0206 a0001c0001t0010g0032 a0001c0001t0051g0210 |
3 | 13 | 0.2308 | 17 | c.151 others(36): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727767 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 192 | 0.0052 | 17 | c.355 others(36): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731756 | A | AAGAAAAG others(10): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0054 | a0001c0001t0012g0115 a0001c0001t0054g0193 |
2 | 250 | 0.0080 | 17 | c.355 others(36): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105740784 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0095 | 1 | 91 | 0.0110 | 17 | c.355 others(36): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG04199.hp1 NA18957.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 6 | 0.8333 | 17 | c.-14 others(28): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69872834 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 24 | 0.0417 | 17 | c.310 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70053544 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 28 | 0.0357 | 17 | c.523 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18964.hp2 NA18987.hp2 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0002a0002c0002t0001a0008c0009t0002 | a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0151 others(2): Show |
5 | 10 | 0.5000 | 17 | c.446 others(36): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32548144 | C | CTCTCTTT others(10): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0056 | a0001c0009t0056g0311 | 1 | 321 | 0.0031 | 17 | c.301 others(32): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32566180 | A | ATCTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(130): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(55): Show | a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0175 others(130): Show |
133 | 190 | 0.7000 | 17 | c.121 others(36): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPR1B_chr1_206101936_206122388 | 206120159 | T | TGCTGAGT others(10): Show |
upstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0065 | 1 | 394 | 0.0025 | 17 | c.-32 others(28): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 2772 | chr1 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179459994 | T | TCCTTCCT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(10): Show |
a0003a0008a0020 | a0003c0004a0008c0012a0020c0030 | a0003c0004t0001a0008c0012t0001a0020c0030t0001 | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(10): Show |
13 | 352 | 0.0369 | 17 | c.179 others(36): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01358.hp1 others(11): Show |
a0001a0002a0005 | a0001c0006a0002c0001a0002c0022others(1): Show | a0001c0006t0001a0002c0001t0001a0002c0022t0001others(1): Show | a0001c0006t0001g0256 a0002c0001t0001g0133 a0002c0001t0001g0239 others(11): Show |
14 | 143 | 0.0979 | 17 | c.209 others(36): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285835 | A | ATTCTCCC others(10): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0079 | 1 | 376 | 0.0027 | 17 | c.*22 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1604 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285937 | C | CCCCAACC others(10): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0009 | a0001c0009t0038 | a0001c0009t0038g0277 | 1 | 329 | 0.0030 | 17 | c.*21 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1502 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285943 | C | CCCCAACC others(10): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0183 | 1 | 360 | 0.0028 | 17 | c.*21 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1496 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285949 | C | CCCCAACC others(10): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0354 a0001c0002t0001g0102 a0001c0002t0001g0104 others(1): Show |
4 | 342 | 0.0117 | 17 | c.*21 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1490 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 289743 | G | GCCCGAGG others(10): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01934.hp1 NA18947.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0014 | a0001c0003t0011a0001c0004t0025a0001c0014t0020 | a0001c0003t0011g0058 a0001c0003t0011g0062 a0001c0003t0011g0065 others(3): Show |
6 | 373 | 0.0161 | 17 | c.229 others(34): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 9/10 | chr16 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 832526 | C | CGGGGGGG others(10): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0009 | a0009c0016 | a0009c0016t0005 | a0009c0016t0005g0029 | 1 | 389 | 0.0026 | 17 | c.*64 others(26): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 509 | chr19 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474988 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0273 | 1 | 326 | 0.0031 | 17 | c.652 others(34): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 25 | 0.0400 | 17 | c.113 others(34): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167393671 | A | ATATACTT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02922.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0002g0018 others(9): Show |
12 | 116 | 0.1034 | 17 | c.-51 others(38): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70894707 | A | ACTTTTCT others(10): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 314 | 0.0032 | 17 | c.592 others(32): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31253595 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0176 |
2 | 138 | 0.0145 | 17 | c.459 others(34): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0122 a0001c0001t0007g0149 |
2 | 59 | 0.0339 | 17 | c.106 others(36): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31316431 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0059 a0001c0001t0022g0056 |
2 | 232 | 0.0086 | 17 | c.106 others(36): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
B3GNT5_chr3_183248253_183278385 | 183268426 | T | TGATGATA others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 388 | 0.0026 | 17 | c.-30 others(36): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0025 others(16): Show |
39 | 223 | 0.1749 | 17 | c.-30 others(34): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001a0013a0021 | a0001c0001a0001c0002a0013c0019others(1): Show | a0001c0001t0028a0001c0002t0005a0001c0002t0075others(2): Show | a0001c0001t0028g0048 a0001c0002t0005g0237 a0001c0002t0075g0191 others(3): Show |
6 | 26 | 0.2308 | 17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511407 | C | CCTTCCAC others(10): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0009 | a0009c0009 | a0009c0009t0004 | a0009c0009t0004g0097 | 1 | 318 | 0.0031 | 17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511729 | T | TCGACCTT others(10): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02273.hp2 HG03540.hp2 |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0012 | a0001c0001t0002a0006c0007t0047a0008c0012t0010 | a0001c0001t0002g0054 a0006c0007t0047g0167 a0008c0012t0010g0389 |
3 | 342 | 0.0088 | 17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512276 | C | CCTTCCAC others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01934.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0020 a0001c0001t0001g0089 a0001c0001t0001g0100 others(37): Show |
40 | 390 | 0.1026 | 17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512953 | C | CCTTCCAC others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0006a0009c0009t0003 | a0001c0001t0006g0062 a0009c0009t0003g0039 |
2 | 392 | 0.0051 | 17 | c.170 others(36): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545690 | T | TGTGGGGA others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01168.hp2 others(17): Show |
a0004a0005a0009others(2): Show | a0004c0005a0005c0006a0005c0017others(3): Show | a0004c0005t0004a0004c0005t0043a0005c0006t0001others(15): Show | a0004c0005t0004g0354 a0004c0005t0043g0219 a0005c0006t0001g0161 others(17): Show |
20 | 221 | 0.0905 | 17 | c.639 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545736 | C | CGAGGAGT others(10): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0006 | a0006c0045 | a0006c0045t0003 | a0006c0045t0003g0392 | 1 | 391 | 0.0026 | 17 | c.639 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545936 | A | AGAGGAGT others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0008 | a0003c0004t0002g0197 a0003c0004t0008g0310 |
2 | 386 | 0.0052 | 17 | c.639 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375115 | A | AGGGAGGA others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0017 | 1 | 182 | 0.0055 | 17 | c.784 others(32): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49643922 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0173 | 1 | 53 | 0.0189 | 17 | c.365 others(32): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 3/8 | chr20 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31618750 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0167 | 1 | 112 | 0.0089 | 17 | c.*68 others(28): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3495 | chr18 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0123 | 1 | 52 | 0.0192 | 17 | c.776 others(34): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
B4GAT1_chr11_66340374_66352629 | 66347690 | C | CCCGCCGC others(10): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 17 | c.-14 others(26): Show |
B4GAT1 | ENSG00000174684.7 | transcript | ENST00000311181.5 | protein_coding | 62 | chr11 | TogoVar | |||||||
B9D2_chr19_41349417_41369149 | 41351804 | T | TGCGGGGG others(10): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 others(1): Show |
5 | 146 | 0.0342 | 17 | c.*28 others(28): Show |
B9D2 | ENSG00000123810.9 | transcript | ENST00000243578.8 | protein_coding | 2612 | chr19 | TogoVar | |||||||
B9D2_chr19_41349417_41369149 | 41351804 | T | TGGGGGGG others(10): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(208): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(60): Show |
211 | 352 | 0.5994 | 17 | c.*28 others(28): Show |
B9D2 | ENSG00000123810.9 | transcript | ENST00000243578.8 | protein_coding | 2612 | chr19 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 27940623 | C | CAGTTTGC others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(89): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 others(89): Show |
92 | 156 | 0.5897 | 17 | c.205 others(36): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27983942 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01433.hp1 HG01496.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0057 others(5): Show |
8 | 11 | 0.7273 | 17 | c.206 others(34): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28040294 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03139.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0058 others(2): Show |
5 | 17 | 0.2941 | 17 | c.496 others(34): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01243.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0059 a0001c0001t0001g0073 others(8): Show |
11 | 15 | 0.7333 | 17 | c.680 others(36): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28248207 | C | CTTTTTCT others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 11 | 0.0909 | 17 | c.934 others(34): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28283019 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00738.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(26): Show |
29 | 125 | 0.2320 | 17 | c.935 others(36): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | chr2 | TogoVar |