| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASTN2_chr9_116418112_117420057 | 117060510 | A | AAAGAAAG others(32): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0099 | 2 | 102 | 0.0196 | 39 | c.127 others(60): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | ||||||
| ATAD1_chr10_87746512_87823226 | 87798625 | G | GGGTGTGT others(32): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042a0001c0001t0003g0094 | 2 | 360 | 0.0056 | 39 | c.163 others(56): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| ATAD1_chr10_87746512_87823226 | 87798625 | G | GTGTGTGT others(32): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 360 | 0.0028 | 39 | c.163 others(56): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| ATAD3A_chr1_1507162_1539685 | 1516294 | T | TGGTGTTG others(32): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0001 | a0001c0037a0001c0038 | a0001c0037t0019a0001c0038t0020 | a0001c0037t0019g0316a0001c0038t0020g0315 | 2 | 420 | 0.0048 | 39 | c.282 others(54): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3A_chr1_1507162_1539685 | 1516323 | G | GAGGGAGG others(32): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03130.hp1 others(2): Show |
a0005a0006 | a0005c0009a0006c0017 | a0005c0009t0008a0006c0017t0008 | a0005c0009t0008g0045a0005c0009t0008g0046a0005c0009t0008g0047others(1): Show | 5 | 420 | 0.0119 | 39 | c.282 others(54): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461589 | C | CTGAGACC others(32): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0017 | a0017c0050 | a0017c0050t0074 | a0017c0050t0074g0133 | 1 | 410 | 0.0024 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461621 | T | TCTCCTCA others(32): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03704.hp1 |
a0002 | a0002c0002 | a0002c0002t0024a0002c0002t0124 | a0002c0002t0024g0101a0002c0002t0124g0336 | 2 | 410 | 0.0049 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461621 | T | TCTCCTCA others(32): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(109): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(57): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0033others(103): Show | 112 | 410 | 0.2732 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461621 | T | TCTCCTCA others(32): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0277 | 1 | 410 | 0.0024 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461682 | A | AGGGACTG others(32): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01433.hp2 others(4): Show |
a0001a0002a0023 | a0001c0004a0001c0022a0002c0002others(1): Show | a0001c0004t0014a0001c0004t0186a0001c0004t0189others(4): Show | a0001c0004t0014g0142a0001c0004t0186g0146a0001c0004t0189g0159others(4): Show | 7 | 410 | 0.0171 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461719 | G | GTAGGGAC others(32): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02109.hp1 HG02717.hp1 others(1): Show |
a0005a0014 | a0005c0010a0014c0044 | a0005c0010t0077a0005c0010t0078a0005c0010t0183others(1): Show | a0005c0010t0077g0028a0005c0010t0078g0309a0005c0010t0183g0028others(1): Show | 4 | 410 | 0.0098 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461719 | G | GTGGGGAC others(32): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0022 | a0001c0022t0051 | a0001c0022t0051g0173 | 1 | 410 | 0.0024 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461719 | G | GTGGGGAC others(32): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0031 | a0002c0031t0051 | a0002c0031t0051g0212 | 1 | 410 | 0.0024 | 39 | c.980 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461726 | T | TTGGAGGG others(32): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03453.hp1 |
a0002a0003 | a0002c0002a0003c0041 | a0002c0002t0028a0003c0041t0057 | a0002c0002t0028g0215a0003c0041t0057g0045 | 2 | 410 | 0.0049 | 39 | c.981 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATAD3C_chr1_1444689_1475163 | 1461767 | A | AGAGGGAG others(32): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0024 | a0024c0053 | a0024c0053t0069 | a0024c0053t0069g0047 | 1 | 410 | 0.0024 | 39 | c.981 others(54): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(32): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 226 | 0.0044 | 39 | c.108 others(56): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
| ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0188a0003c0003t0001g0205 | 2 | 226 | 0.0089 | 39 | c.217 others(58): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATOH8_chr2_85748991_85796383 | 85753898 | C | CGAACTGG others(32): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0250 | 1 | 378 | 0.0027 | 39 | c.-29 others(48): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 92 | chr2 | TogoVar | ||||||
| ATOSA_chr15_52576321_52684388 | 52679769 | T | TCCTCCTC others(32): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 362 | 0.0028 | 39 | c.-10 others(50): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 382 | chr15 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112767314 | C | CGTTGGGG others(32): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0041 | 1 | 254 | 0.0039 | 39 | c.40- others(56): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804052 | T | TCCTCCTT others(32): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0021a0001c0004t0003 | a0001c0001t0021g0240a0001c0004t0003g0049a0001c0004t0003g0079 | 3 | 254 | 0.0118 | 39 | c.163 others(54): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804052 | T | TCCTCCTT others(32): Show |
intron_variant | MODIFIER | HG02895.hp2 NA19065.hp2 |
a0001 | a0001c0006a0001c0011 | a0001c0006t0004a0001c0011t0001 | a0001c0006t0004g0114a0001c0011t0001g0139 | 2 | 254 | 0.0079 | 39 | c.163 others(54): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804197 | C | CTTCCCCT others(32): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 NA20300.hp1 |
a0001a0009 | a0001c0001a0009c0038 | a0001c0001t0001a0009c0038t0069 | a0001c0001t0001g0068a0001c0001t0001g0146a0009c0038t0069g0044 | 3 | 254 | 0.0118 | 39 | c.163 others(54): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804305 | T | TCCTCCTT others(32): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 254 | 0.0039 | 39 | c.163 others(54): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP1A3_chr19_41961582_41999230 | 41990360 | C | CCTCTCTC others(32): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 282 | 0.0036 | 39 | c.7-1 others(52): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 1/22 | chr19 | TogoVar | ||||||
| ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(32): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 334 | 0.0030 | 39 | c.*32 others(50): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | ||||||
| ATP5ME_chr4_667436_679276 | 669342 | C | CACTACCC others(32): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 NA19002.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 394 | 0.0076 | 39 | c.*31 others(50): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3093 | chr4 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG02040.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0007t0001others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0001g0047others(14): Show | 17 | 376 | 0.0452 | 39 | c.157 others(58): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
| ATP9A_chr20_51591514_51773390 | 51651237 | C | CATAATAT others(32): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 312 | 0.0032 | 39 | c.150 others(58): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
| ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(32): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0040a0001c0002t0004g0054 | 2 | 128 | 0.0156 | 39 | c.317 others(60): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ATR_chr3_142444235_142583733 | 142543400 | C | CTTCTTCC others(32): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01099.hp2 others(18): Show |
a0002a0003 | a0002c0002a0002c0005a0003c0003 | a0002c0002t0001a0002c0005t0001a0003c0003t0001 | a0002c0002t0001g0289a0002c0002t0001g0291a0002c0005t0001g0027others(18): Show | 21 | 322 | 0.0652 | 39 | c.335 others(56): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 298 | 0.0034 | 39 | c.251 others(56): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
| ATXN3_chr14_92053552_92111582 | 92071009 | C | CGCTGCTG others(32): Show |
conservative_inframe_insertion | MODERATE | HG01168.hp2 HG01169.hp2 HG01884.hp2 others(26): Show |
a0003a0054 | a0003c0003a0054c0044 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(7): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(24): Show | 29 | 402 | 0.0721 | 39 | c.916 others(46): Show |
p.Gly others(51): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 946/6884 | 916/1086 | 306/361 | chr14 | TogoVar | ||
| ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(32): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 HG01069.hp1 HG01192.hp1 others(7): Show |
a0010 | a0010c0011 | a0010c0011t0006a0010c0011t0007a0010c0011t0019others(2): Show | a0010c0011t0006g0275a0010c0011t0006g0366a0010c0011t0006g0372others(7): Show | 10 | 402 | 0.0249 | 39 | c.915 others(46): Show |
p.Gln others(52): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | ||
| AUTS2_chr7_69593475_70798506 | 69614367 | T | TCTTTCTT others(32): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 76 | 0.0132 | 39 | c.309 others(58): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 69614367 | T | TCTTTCTT others(32): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01952.hp1 HG02165.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0053a0001c0001t0004g0051a0001c0001t0008g0063others(3): Show | 6 | 76 | 0.0790 | 39 | c.309 others(58): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 70579244 | T | TAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0059 | 1 | 76 | 0.0132 | 39 | c.691 others(60): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 266 | 0.0038 | 39 | c.446 others(58): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| AVL9_chr7_32490489_32593726 | 32579430 | A | ATTATATA others(32): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 NA18944.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0032a0002c0003t0089a0002c0003t0090others(1): Show | a0002c0003t0032g0118a0002c0003t0032g0135a0002c0003t0032g0136others(3): Show | 6 | 330 | 0.0182 | 39 | c.168 others(56): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AXL_chr19_41214223_41266766 | 41250382 | A | ACCCACTC others(32): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0094 | 1 | 314 | 0.0032 | 39 | c.171 others(58): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 268 | 0.0037 | 39 | c.-38 others(50): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0007 | 1 | 268 | 0.0037 | 39 | c.-38 others(50): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 268 | 0.0037 | 39 | c.-38 others(50): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 NA19079.hp1 NA19087.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0002c0002t0002 | a0001c0001t0005g0045a0001c0001t0006g0052a0002c0002t0002g0166others(1): Show | 4 | 268 | 0.0149 | 39 | c.-38 others(50): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 268 | 0.0037 | 39 | c.-38 others(50): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 268 | 0.0037 | 39 | c.-38 others(50): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196208 | T | TATATATA others(32): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 268 | 0.0037 | 39 | c.-38 others(50): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3766 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31316431 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03130.hp2 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0163a0001c0001t0006g0054a0001c0001t0006g0057 | 3 | 268 | 0.0112 | 39 | c.106 others(58): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| B3GNT3_chr19_17790138_17818576 | 17809029 | T | TCACCCTG others(32): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0211 | 1 | 406 | 0.0025 | 39 | c.567 others(54): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| B3GNTL1_chr17_82937149_83056770 | 82971582 | T | TAGGGGCC others(32): Show |
intron_variant | MODIFIER | HG01981.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0039a0001c0012t0001 | a0001c0001t0039g0260a0001c0012t0001g0080 | 2 | 266 | 0.0075 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar |