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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVL9_chr7_32490489_32593726 | 32531415 | G | GAACATGT others(45): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(65): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0010a0001c0001t0094a0001c0002t0005others(32): Show | a0001c0001t0010g0163 a0001c0001t0094g0175 a0001c0002t0005g0142 others(65): Show |
68 | 330 | 0.2061 | 52 | c.94- others(69): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(45): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 446 | 0.0022 | 52 | c.287 others(67): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285931 | C | CCCCAACC others(45): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03486.hp1 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0032a0001c0011t0019 | a0001c0004t0032g0279 a0001c0011t0019g0002 |
3 | 378 | 0.0079 | 52 | c.*21 others(63): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1508 | chr16 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167563255 | C | CGGGGTGG others(45): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0073 others(5): Show |
8 | 118 | 0.0678 | 52 | c.-41 others(73): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563264 | T | TGGCCGGA others(45): Show |
intron_variant | MODIFIER | HG02896.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0052 a0001c0001t0028g0056 |
2 | 118 | 0.0170 | 52 | c.-41 others(73): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563264 | T | TGGCCGGA others(45): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0069 | 1 | 118 | 0.0085 | 52 | c.-41 others(73): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316434 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 268 | 0.0037 | 52 | c.106 others(71): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82958946 | G | GGGTGTAT others(45): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0067 | 1 | 266 | 0.0038 | 52 | c.681 others(69): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28112197 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 158 | 0.0063 | 52 | c.571 others(71): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675877 | T | TCCCCTTC others(45): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01346.hp2 others(23): Show |
a0001a0012a0017 | a0001c0001a0012c0025a0017c0026 | a0001c0001t0003a0001c0001t0004a0012c0025t0004others(1): Show | a0001c0001t0003g0011 a0001c0001t0003g0023 a0001c0001t0003g0052 others(20): Show |
26 | 420 | 0.0619 | 52 | c.910 others(67): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675879 | C | CCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG02965.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 a0002c0003t0002g0058 a0002c0003t0002g0063 |
5 | 420 | 0.0119 | 52 | c.910 others(67): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675902 | C | CCTTTTCC others(45): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0083 | 1 | 420 | 0.0024 | 52 | c.910 others(67): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675902 | C | CCTTTTCC others(45): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 420 | 0.0024 | 52 | c.910 others(67): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675903 | C | CCCTTCCC others(45): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0285 | 1 | 420 | 0.0024 | 52 | c.910 others(67): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675907 | T | TCCCCTTT others(45): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 | 1 | 420 | 0.0024 | 52 | c.910 others(67): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98393030 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 298 | 0.0034 | 52 | c.51+ others(67): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 88059059 | T | TGGTCCGT others(45): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 352 | 0.0028 | 52 | c.131 others(71): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0135 | 1 | 380 | 0.0026 | 52 | c.393 others(69): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107591641 | T | TACACACA others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02970.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0062 a0001c0001t0001g0063 |
3 | 398 | 0.0075 | 52 | c.194 others(69): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(45): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 | 1 | 458 | 0.0022 | 52 | c.-43 others(63): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(45): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 NA18963.hp2 NA19063.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 a0002c0002t0002g0018 |
3 | 458 | 0.0066 | 52 | c.-43 others(63): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(45): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 458 | 0.0022 | 52 | c.-43 others(63): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17720154 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18953.hp2 NA19079.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0008a0001c0001t0010a0001c0002t0014others(1): Show | a0001c0001t0008g0223 a0001c0001t0010g0235 a0001c0002t0014g0064 others(1): Show |
4 | 306 | 0.0131 | 52 | c.601 others(69): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL6B_chr17_7018050_7034644 | 7028436 | C | CCTGGAGG others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(42): Show |
290 | 356 | 0.8146 | 52 | c.*81 others(61): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 9/9 | 870 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCL6B_chr17_7018050_7034644 | 7028450 | G | GTGTGGGG others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp1 others(47): Show |
a0002a0005a0009 | a0002c0002a0005c0018a0009c0010 | a0002c0002t0002a0002c0002t0012a0002c0002t0018others(2): Show | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0015 others(5): Show |
50 | 356 | 0.1405 | 52 | c.*86 others(61): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 9/9 | 870 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCL6B_chr17_7018050_7034644 | 7028454 | G | GGGGGATT others(45): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0016 | a0002c0016t0013 | a0002c0016t0013g0018 | 1 | 356 | 0.0028 | 52 | c.*86 others(61): Show |
BCL6B | ENSG00000161940.11 | transcript | ENST00000293805.10 | protein_coding | 9/9 | 870 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCL6_chr3_187716381_187750468 | 187718013 | T | TGTAAGCG others(45): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0111 |
2 | 404 | 0.0050 | 52 | c.*44 others(63): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3367 | chr3 | TogoVar | |||||||
BCL6_chr3_187716381_187750468 | 187718035 | A | AACTCCCC others(45): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(228): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(209): Show |
231 | 404 | 0.5718 | 52 | c.*44 others(63): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3345 | chr3 | TogoVar | |||||||
BCL6_chr3_187716381_187750468 | 187718049 | G | GTGGCTAT others(45): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(152): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0134 a0001c0001t0002g0094 a0001c0002t0001g0013 others(134): Show |
155 | 404 | 0.3837 | 52 | c.*44 others(63): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3331 | chr3 | TogoVar | |||||||
BCL6_chr3_187716381_187750468 | 187718092 | C | CCCAGAAG others(45): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 404 | 0.0025 | 52 | c.*43 others(63): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3288 | chr3 | TogoVar | |||||||
BCL6_chr3_187716381_187750468 | 187718118 | G | GTAAGGGT others(45): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0353 | 1 | 404 | 0.0025 | 52 | c.*43 others(63): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3262 | chr3 | TogoVar | |||||||
BCL6_chr3_187716381_187750468 | 187718134 | T | TGGCAGAC others(45): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 404 | 0.0025 | 52 | c.*43 others(63): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 3246 | chr3 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(45): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0174 | a0001c0001t0174g0177 | 1 | 319 | 0.0031 | 52 | c.*12 others(63): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197517475 | T | TTTCCTGC others(45): Show |
intron_variant | MODIFIER | HG02145.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0210a0001c0001t0215 | a0001c0001t0210g0168 a0001c0001t0215g0024 |
2 | 319 | 0.0063 | 52 | c.410 others(69): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197518852 | C | CCCCCCCC others(45): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0137 | a0001c0001t0137g0220 | 1 | 319 | 0.0031 | 52 | c.409 others(69): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
BEAN1_chr16_66422295_66487833 | 66474569 | A | AGAGGGAG others(45): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0200 | 1 | 298 | 0.0034 | 52 | c.290 others(69): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474569 | A | AGAGGGAG others(45): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 298 | 0.0034 | 52 | c.290 others(69): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGGAGG others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0248 |
2 | 298 | 0.0067 | 52 | c.290 others(69): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGGAGG others(45): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0050 | 1 | 298 | 0.0034 | 52 | c.290 others(69): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGGAGG others(45): Show |
intron_variant | MODIFIER | HG00140.hp2 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 a0002c0002t0001g0188 |
2 | 298 | 0.0067 | 52 | c.290 others(69): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474622 | G | GAGGAAGG others(45): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 298 | 0.0034 | 52 | c.290 others(69): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546339 | A | ACCCCGGC others(45): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 326 | 0.0031 | 52 | c.233 others(67): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 3/6 | chr14 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700985 | T | TTCCTTCG others(45): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 366 | 0.0027 | 52 | c.-17 others(63): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1683 | chr12 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137035 | C | CATATGAA others(45): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00609.hp2 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(66): Show |
76 | 432 | 0.1759 | 52 | c.*59 others(63): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4748 | chr5 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79137152 | C | CACGAATA others(45): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 432 | 0.0023 | 52 | c.*60 others(63): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4865 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58621956 | G | GAACAGAA others(45): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01256.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0073 a0001c0001t0002g0003 a0001c0001t0005g0014 others(9): Show |
12 | 132 | 0.0909 | 52 | c.237 others(69): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32142468 | A | ATCTATCT others(45): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0288 | 1 | 290 | 0.0035 | 52 | c.213 others(71): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32253903 | A | ATATCCCA others(45): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0174 a0001c0001t0003g0225 a0001c0001t0003g0232 |
3 | 290 | 0.0103 | 52 | c.426 others(71): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276323 | C | CTCTCCCT others(45): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155 a0001c0001t0002g0132 |
2 | 378 | 0.0053 | 52 | c.398 others(67): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276358 | T | TCCGTCTC others(45): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0249 | 1 | 378 | 0.0027 | 52 | c.398 others(67): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar |