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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18994.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 a0001c0001t0002g0113 a0001c0001t0002g0174 |
3 | 19 | 0.1579 | 36 | c.455 others(53): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(29): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02055.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0197 a0001c0001t0003g0196 a0001c0001t0004g0193 others(4): Show |
7 | 91 | 0.0769 | 36 | c.-49 others(47): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92071009 | C | CGCTGCTG others(29): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp1 HG02056.hp1 HG03710.hp2 others(3): Show |
a0015 | a0015c0014 | a0015c0014t0001a0015c0014t0002a0015c0014t0024 | a0015c0014t0001g0055 a0015c0014t0001g0066 a0015c0014t0001g0109 others(3): Show |
6 | 291 | 0.0206 | 36 | c.916 others(43): Show |
p.Gly others(48): 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(29): Show |
conservative_inframe_insertion | MODERATE | HG01167.hp1 HG02258.hp2 HG03831.hp2 others(3): Show |
a0024a0033a0035 | a0024c0031a0024c0041a0033c0043others(1): Show | a0024c0031t0003a0024c0031t0006a0024c0041t0006others(2): Show | a0024c0031t0003g0138 a0024c0031t0006g0365 a0024c0041t0006g0371 others(3): Show |
6 | 107 | 0.0561 | 36 | c.915 others(43): Show |
p.Gln others(49): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN7L1_chr7_105599772_105881599 | 105664498 | A | AATATATG others(29): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 250 | 0.0040 | 36 | c.578 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(29): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0139 | 1 | 132 | 0.0076 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(29): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0027 a0001c0001t0011g0012 |
2 | 133 | 0.0150 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0053 | a0001c0001t0036g0190 a0001c0001t0053g0018 |
2 | 133 | 0.0150 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 NA19000.hp1 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0010a0004c0013t0031 | a0001c0001t0001g0236 a0001c0001t0010g0095 a0004c0013t0031g0107 |
3 | 134 | 0.0224 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCT others(29): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 132 | 0.0076 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCT others(29): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18971.hp2 NA18994.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0028 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0030 others(3): Show |
6 | 137 | 0.0438 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCT others(29): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01981.hp2 HG02056.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0089 a0001c0001t0003g0152 a0001c0001t0004g0203 others(3): Show |
6 | 137 | 0.0438 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCT others(29): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0069 | 1 | 132 | 0.0076 | 36 | c.356 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAGAA others(29): Show |
intron_variant | MODIFIER | HG01109.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0249 a0001c0001t0022g0189 |
2 | 53 | 0.0377 | 36 | c.355 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733864 | A | ATCCACCC others(29): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 250 | 0.0040 | 36 | c.355 others(55): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105869468 | A | AGGGGGGG others(29): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0096 | 1 | 250 | 0.0040 | 36 | c.250 others(53): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214581 | G | GATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 371 | 0.0027 | 36 | c.-40 others(47): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4007 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0023 |
2 | 214 | 0.0093 | 36 | c.-41 others(47): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 213 | 0.0047 | 36 | c.-41 others(47): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 HG03453.hp1 NA18952.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0002c0002t0001g0014 |
5 | 217 | 0.0230 | 36 | c.-41 others(47): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01167.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 |
4 | 216 | 0.0185 | 36 | c.-41 others(47): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01515.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0006 a0002c0002t0001g0009 |
4 | 216 | 0.0185 | 36 | c.-41 others(47): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 213 | 0.0047 | 36 | c.-41 others(47): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33985355 | G | GAAGGAAC others(29): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 others(83): Show |
87 | 264 | 0.3295 | 36 | c.445 others(55): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503373 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0161 | 1 | 19 | 0.0526 | 36 | c.93+ others(51): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285966 | T | TCCCAACC others(29): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 356 | 0.0028 | 36 | c.*21 others(47): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1473 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 326394 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0048 | 1 | 355 | 0.0028 | 36 | c.879 others(55): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGGCCC others(29): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 223 | 0.0045 | 36 | c.*36 others(47): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876002 | C | CGTATATA others(29): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 115 | 0.0087 | 36 | c.*59 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1958 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876003 | G | GTATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 HG06807.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0003g0028 |
3 | 108 | 0.0278 | 36 | c.*59 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1959 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876003 | G | GTATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 106 | 0.0094 | 36 | c.*59 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1959 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876053 | G | GTATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0062 a0001c0001t0006g0040 |
2 | 105 | 0.0190 | 36 | c.*60 others(47): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2009 | chr2 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70855050 | T | TCATATAC others(29): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 NA18981.hp1 NA19002.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0032a0001c0002t0007 | a0001c0001t0003g0136 a0001c0001t0032g0005 a0001c0002t0007g0241 |
3 | 41 | 0.0732 | 36 | c.*65 others(47): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1628 | chr6 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 39 | 0.0256 | 36 | c.-38 others(47): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 NA18964.hp2 NA19058.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0008 | a0001c0001t0001g0144 a0002c0002t0002g0126 a0002c0002t0008g0145 |
3 | 41 | 0.0732 | 36 | c.-38 others(47): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 39 | 0.0256 | 36 | c.-38 others(47): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0199 a0002c0002t0002g0112 |
2 | 40 | 0.0500 | 36 | c.-38 others(47): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02055.hp2 NA18954.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0088 a0001c0001t0001g0121 a0002c0002t0002g0158 |
3 | 41 | 0.0732 | 36 | c.-38 others(47): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATTATA others(29): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0085 | 1 | 39 | 0.0256 | 36 | c.-38 others(47): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG02109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0254 a0001c0001t0005g0198 a0001c0001t0007g0020 others(5): Show |
8 | 65 | 0.1231 | 36 | c.106 others(55): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003024 | C | CCGCCCTC others(29): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0149 | 1 | 223 | 0.0045 | 36 | c.459 others(53): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003301 | C | CCTCCGCG others(29): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp1 |
a0004 | a0004c0017 | a0004c0017t0002 | a0004c0017t0002g0137 a0004c0017t0002g0138 |
2 | 237 | 0.0084 | 36 | c.459 others(53): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003388 | G | GTCCGCGT others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0011t0001others(2): Show | a0001c0001t0002g0177 a0001c0001t0017g0176 a0001c0011t0001g0145 others(3): Show |
6 | 253 | 0.0237 | 36 | c.459 others(53): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004077 | G | GTCCGCGT others(29): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0036 | 1 | 222 | 0.0045 | 36 | c.459 others(53): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004156 | G | GTCCGCGT others(29): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0009 | a0002c0009t0013 | a0002c0009t0013g0088 | 1 | 257 | 0.0039 | 36 | c.459 others(51): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004156 | G | GTCCGCGT others(29): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0002others(3): Show | a0001c0001t0002g0059 a0001c0001t0032g0164 a0001c0002t0002g0115 others(4): Show |
7 | 263 | 0.0266 | 36 | c.459 others(51): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004186 | C | CACCGCCC others(29): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 266 | 0.0038 | 36 | c.459 others(51): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004215 | C | CCGCCCTC others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0011t0001others(2): Show | a0001c0001t0002g0177 a0001c0001t0017g0176 a0001c0011t0001g0145 others(3): Show |
6 | 255 | 0.0235 | 36 | c.459 others(51): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83004235 | G | GTCCGCGT others(29): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0036 | 1 | 262 | 0.0038 | 36 | c.459 others(51): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 459904 | C | CGGGGCGG others(29): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0151 | 1 | 383 | 0.0026 | 36 | c.-47 others(45): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 34 | chr12 | TogoVar |