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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8B4_chr15_49853238_50124233 | 50087352 | A | ATTTATAT others(22): Show |
intron_variant | MODIFIER | HG02055.hp2 NA20300.hp1 |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0001a0011c0012t0001 | a0002c0002t0001g0163 a0011c0012t0001g0095 |
2 | 226 | 0.0088 | 29 | c.29- others(46): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50087352 | A | ATTTATAT others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0240 | 1 | 225 | 0.0044 | 29 | c.29- others(46): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0013a0001c0002t0011 | a0001c0001t0012g0161 a0001c0001t0013g0052 a0001c0002t0011g0051 others(1): Show |
4 | 84 | 0.0476 | 29 | c.328 others(46): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18612.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0004t0003 | a0001c0001t0001g0054 a0001c0001t0008g0055 a0001c0001t0008g0057 others(1): Show |
4 | 5 | 0.8000 | 29 | c.119 others(46): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115802046 | A | ACACACAC others(22): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0118 | 1 | 44 | 0.0227 | 29 | c.390 others(50): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | |||||||
ATRN_chr20_3466018_3656118 | 3512107 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03942.hp2 HG04199.hp1 |
a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0155 a0002c0004t0016g0156 |
2 | 108 | 0.0185 | 29 | c.411 others(48): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 a0001c0001t0002g0121 |
2 | 18 | 0.1111 | 29 | c.455 others(46): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440648 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 HG03041.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0011a0001c0008t0047a0002c0003t0031others(3): Show | a0001c0001t0011g0131 a0001c0008t0047g0060 a0002c0003t0031g0058 others(3): Show |
6 | 115 | 0.0522 | 29 | c.-16 others(50): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16494078 | G | GGAGAGGC others(22): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0006 a0002c0004t0003g0114 |
2 | 29 | 0.0690 | 29 | c.-29 others(48): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111458166 | G | GAGATATA others(22): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02965.hp2 |
a0003a0005 | a0003c0004a0005c0023 | a0003c0004t0005a0005c0023t0005 | a0003c0004t0005g0006 a0005c0023t0005g0122 |
2 | 296 | 0.0068 | 29 | c.289 others(46): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576132 | T | TAACATAA others(22): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0110 | 1 | 260 | 0.0038 | 29 | c.252 others(48): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0012 | a0012c0017 | a0012c0017t0017 | a0012c0017t0017g0019 | 1 | 66 | 0.0152 | 29 | c.499 others(44): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70185257 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0025 | 1 | 28 | 0.0357 | 29 | c.660 others(48): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33864728 | A | ACAGTTCA others(22): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0147 | 1 | 264 | 0.0038 | 29 | c.*18 others(40): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1498 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 6 | 0.1667 | 29 | c.446 others(48): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503406 | A | ACACACAC others(22): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0284 | 1 | 323 | 0.0031 | 29 | c.93+ others(44): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32579431 | T | TTATATAT others(22): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03139.hp1 HG03471.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0117a0001c0008t0093a0001c0008t0095 | a0001c0002t0117g0217 a0001c0008t0093g0056 a0001c0008t0095g0055 |
3 | 328 | 0.0091 | 29 | c.168 others(46): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285937 | C | CCCCAACC others(22): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 329 | 0.0030 | 29 | c.*21 others(40): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1502 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285959 | G | GCGGTTCT others(22): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0004a0001c0011a0001c0012 | a0001c0004t0032a0001c0011t0019a0001c0012t0040others(1): Show | a0001c0004t0032g0279 a0001c0011t0019g0002 a0001c0012t0040g0067 others(1): Show |
5 | 333 | 0.0150 | 29 | c.*21 others(40): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1480 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285976 | G | GCGGTTCT others(22): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189 | 1 | 371 | 0.0027 | 29 | c.*21 others(40): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1463 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 312275 | T | TTTTTACC others(22): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0261 | 1 | 376 | 0.0027 | 29 | c.102 others(48): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65563020 | A | AGTGAAAG others(22): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA18968.hp1 NA18970.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0055 a0001c0002t0001g0295 |
5 | 400 | 0.0125 | 29 | c.-16 others(40): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 1373 | chr17 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39630450 | A | ACAGTGAC others(22): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0031a0002c0002t0004others(5): Show | a0001c0001t0002g0043 a0001c0001t0031g0037 a0001c0001t0031g0038 others(6): Show |
9 | 334 | 0.0269 | 29 | c.-39 others(50): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0016 | 1 | 39 | 0.0256 | 29 | c.-38 others(40): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG03209.hp2 HG06807.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0003t0003 | a0002c0002t0003g0011 a0002c0002t0003g0234 a0002c0003t0003g0028 |
3 | 41 | 0.0732 | 29 | c.-38 others(40): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0120 | 1 | 39 | 0.0256 | 29 | c.-38 others(40): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31316431 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02056.hp1 HG02080.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0049 others(5): Show |
8 | 238 | 0.0336 | 29 | c.106 others(48): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82958944 | G | GTGTGGGG others(22): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0081 | 1 | 266 | 0.0038 | 29 | c.681 others(46): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003594 | C | CGTGTGGG others(22): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0223 | 1 | 266 | 0.0038 | 29 | c.459 others(46): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003881 | C | CGTGTGGG others(22): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19043.hp2 |
a0001a0003 | a0001c0006a0003c0030 | a0001c0006t0001a0003c0030t0011 | a0001c0006t0001g0018 a0003c0030t0011g0141 |
2 | 266 | 0.0075 | 29 | c.459 others(46): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02647.hp2 others(6): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0001a0001c0002t0013a0001c0016t0088others(5): Show | a0001c0001t0001g0020 a0001c0002t0013g0175 a0001c0016t0088g0229 others(6): Show |
9 | 29 | 0.3103 | 29 | c.170 others(48): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375187 | G | GGGAGGGA others(22): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0026 | 1 | 182 | 0.0055 | 29 | c.784 others(44): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375191 | G | GGGAGGAG others(22): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 181 | 0.0055 | 29 | c.784 others(44): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28139985 | A | AAAACAGA others(22): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0142 a0001c0001t0002g0145 |
2 | 156 | 0.0128 | 29 | c.680 others(48): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28196321 | C | CGTCTCAA others(22): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0082 |
2 | 140 | 0.0143 | 29 | c.681 others(48): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41174138 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 97 | 0.0103 | 29 | c.312 others(46): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119675895 | T | TCCTTCCT others(22): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 357 | 0.0028 | 29 | c.910 others(44): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675895 | T | TCCTTCCT others(22): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0014 | a0014c0012 | a0014c0012t0004 | a0014c0012t0004g0119 | 1 | 357 | 0.0028 | 29 | c.910 others(44): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0114 |
3 | 160 | 0.0188 | 29 | c.128 others(46): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 158 | 0.0063 | 29 | c.128 others(46): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02630.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0020 a0001c0002t0001g0209 |
2 | 159 | 0.0126 | 29 | c.128 others(46): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 158 | 0.0063 | 29 | c.128 others(46): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L2_chr22_38079900_38115684 | 38084929 | T | TTTACAAA others(22): Show |
3_prime_UTR_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0014 | 1 | 16 | 0.0625 | 29 | c.*34 others(38): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 14/14 | 370 | chr22 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG01975.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0098 a0002c0002t0002g0110 a0002c0002t0002g0111 others(2): Show |
5 | 261 | 0.0192 | 29 | c.130 others(46): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
BAMBI_chr10_28672521_28687932 | 28683987 | C | CAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 132 | 0.0076 | 29 | c.*15 others(40): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 1056 | chr10 | TogoVar | |||||||
BAP1_chr3_52396008_52415008 | 52410180 | A | ACGGGACG others(22): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 345 | 0.0087 | 29 | c.-30 others(38): Show |
BAP1 | ENSG00000163930.10 | transcript | ENST00000460680.6 | protein_coding | 173 | chr3 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214751151 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0004 | a0004c0007 | a0004c0007t0030 | a0004c0007t0030g0040 | 1 | 39 | 0.0256 | 29 | c.167 others(48): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159377812 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001 | a0001c0001t0009g0132 a0002c0002t0001g0128 |
2 | 58 | 0.0345 | 29 | c.400 others(48): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74035584 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03209.hp2 |
a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0354 a0005c0005t0008g0355 |
2 | 108 | 0.0185 | 29 | c.495 others(46): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACACAAA others(22): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | 270 | 0.0074 | 29 | c.*44 others(40): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar |