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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICD1_chr12_32101847_32388633 | 32238944 | C | CAAAAA | intron_variant | MODIFIER | HG02683.hp2 HG04184.hp2 NA18947.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0002t0001g0178 a0001c0002t0002g0208 a0001c0002t0002g0227 others(4): Show |
7 | 141 | 0.0496 | 5 | c.426 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32243264 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01358.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0003g0246 a0001c0001t0006g0034 a0001c0001t0006g0035 others(28): Show |
31 | 120 | 0.2583 | 5 | c.426 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32252117 | A | ATATAT | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0158 a0001c0001t0018g0210 a0001c0001t0018g0224 |
3 | 158 | 0.0190 | 5 | c.426 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32283359 | A | ACCACT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 others(63): Show |
66 | 232 | 0.2845 | 5 | c.427 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32298569 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00597.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0182 a0001c0001t0001g0263 a0001c0001t0001g0281 others(64): Show |
67 | 148 | 0.4527 | 5 | c.579 others(22): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32298870 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0006g0021 a0001c0001t0006g0027 a0001c0001t0006g0034 others(25): Show |
28 | 274 | 0.1022 | 5 | c.579 others(22): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32312198 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(93): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0058 others(93): Show |
96 | 288 | 0.3333 | 5 | c.100 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 119999062 | G | GAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01069.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 others(63): Show |
68 | 175 | 0.3886 | 5 | c.645 others(20): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42786494 | A | ATAAAC | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(159): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(159): Show |
162 | 268 | 0.6045 | 5 | c.-10 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42793122 | A | ATTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01516.hp1 HG02165.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0249 others(2): Show |
5 | 31 | 0.1613 | 5 | c.-10 others(26): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42844557 | A | AGGCAG | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(101): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0038 others(101): Show |
104 | 268 | 0.3881 | 5 | c.184 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47657930 | C | CTCTCG | intron_variant | MODIFIER | HG02145.hp1 HG03490.hp2 NA19012.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0005t0002 | a0002c0002t0002g0110 a0002c0002t0002g0146 a0002c0005t0002g0071 |
3 | 306 | 0.0098 | 5 | c.-10 others(26): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
BICRA_chr19_47604134_47708277 | 47663874 | C | CTTCCA | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(53): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0006others(14): Show | a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0142 others(53): Show |
56 | 259 | 0.2162 | 5 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47684830 | T | TCTAAG | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01109.hp2 others(22): Show |
a0001a0007 | a0001c0001a0007c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 others(22): Show |
25 | 310 | 0.0806 | 5 | c.228 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127046636 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(126): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(17): Show | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0037 others(117): Show |
129 | 327 | 0.3945 | 5 | c.*18 others(16): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1395 | chr2 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51277462 | G | GGGGAC | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02486.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0089 a0001c0001t0001g0209 a0001c0001t0001g0261 others(6): Show |
9 | 398 | 0.0226 | 5 | c.*40 others(16): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 3575 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51290933 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0009a0001c0019others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(259): Show |
299 | 398 | 0.7513 | 5 | c.151 others(22): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 10/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51322440 | A | AGTGTG | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 NA19043.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006 | 3 | 398 | 0.0075 | 5 | c.81+ others(20): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22661352 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(195): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(173): Show |
198 | 296 | 0.6689 | 5 | c.8+7 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102321347 | G | GTTTTA | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp1 HG03225.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0011a0001c0001t0021a0001c0007t0038 | a0001c0001t0011g0022 a0001c0001t0011g0042 a0001c0001t0021g0042 others(2): Show |
7 | 382 | 0.0183 | 5 | c.-26 others(24): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC5_chr17_78209253_78230635 | 78230230 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0016 others(18): Show |
66 | 144 | 0.4583 | 5 | c.*66 others(16): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 4596 | chr17 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32431181 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0017 | a0001c0001t0001a0001c0003t0001a0003c0017t0001 | a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0102 others(21): Show |
24 | 55 | 0.4364 | 5 | c.324 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32439947 | C | CTCTGT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0269 a0001c0001t0001g0270 |
3 | 272 | 0.0110 | 5 | c.381 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 16/73 | chr2 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32460980 | T | TTGCTC | intron_variant | MODIFIER | HG02040.hp1 HG03471.hp1 |
a0001a0002 | a0001c0011a0002c0038 | a0001c0011t0001a0002c0038t0001 | a0001c0011t0001g0220 a0002c0038t0001g0098 |
2 | 270 | 0.0074 | 5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460998 | C | CTCTCT | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp2 HG01993.hp2 others(5): Show |
a0001a0002a0005 | a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0003t0005a0001c0006t0001a0001c0007t0002others(4): Show | a0001c0003t0005g0032 a0001c0006t0001g0008 a0001c0006t0001g0010 others(5): Show |
8 | 236 | 0.0339 | 5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461047 | C | CTTCTG | intron_variant | MODIFIER | HG02622.hp2 HG03209.hp2 |
a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0183 a0001c0018t0003g0184 |
2 | 269 | 0.0074 | 5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461057 | C | CTTCTG | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp2 HG02451.hp1 others(3): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0017 | a0002c0002t0001a0002c0004t0001a0003c0017t0001 | a0002c0002t0001g0041 a0002c0002t0001g0069 a0002c0002t0001g0100 others(3): Show |
6 | 255 | 0.0235 | 5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461068 | T | TTCTCC | intron_variant | MODIFIER | HG03486.hp2 NA19054.hp1 NA19066.hp2 others(1): Show |
a0002 | a0002c0002a0002c0024 | a0002c0002t0001a0002c0002t0006a0002c0024t0001 | a0002c0002t0001g0062 a0002c0002t0001g0161 a0002c0002t0006g0015 others(1): Show |
4 | 92 | 0.0435 | 5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461106 | T | TCCTCC | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02015.hp2 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0023t0001g0011 |
3 | 245 | 0.0122 | 5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02976.hp1 NA18947.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 a0002c0002t0001g0069 a0002c0002t0001g0075 others(3): Show |
6 | 9 | 0.6667 | 5 | c.740 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32508276 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01255.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0010a0001c0011others(1): Show | a0001c0001t0001a0001c0010t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0207 a0001c0001t0001g0229 a0001c0001t0001g0245 others(5): Show |
8 | 29 | 0.2759 | 5 | c.998 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32521365 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02015.hp2 others(15): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 others(15): Show |
18 | 27 | 0.6667 | 5 | c.116 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 57/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32570961 | C | CTTATT | intron_variant | MODIFIER | HG02965.hp2 HG03688.hp2 |
a0001a0010 | a0001c0003a0010c0028 | a0001c0003t0001a0010c0028t0001 | a0001c0003t0001g0123 a0010c0028t0001g0179 |
2 | 271 | 0.0074 | 5 | c.131 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102809772 | C | CCTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0002g0203 a0001c0001t0004g0051 a0001c0001t0004g0052 others(25): Show |
33 | 402 | 0.0821 | 5 | c.478 others(22): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102823716 | T | TGTTCA | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0008a0001c0002t0013 | a0001c0001t0004g0049 a0001c0002t0008g0120 a0001c0002t0013g0022 others(1): Show |
6 | 402 | 0.0149 | 5 | c.901 others(22): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102824950 | A | ATTAAT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(129): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(98): Show |
132 | 227 | 0.5815 | 5 | c.901 others(22): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTT | intron_variant | MODIFIER | HG02083.hp1 HG02451.hp1 HG02647.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0017 | a0001c0001t0003g0042 a0001c0001t0003g0054 a0001c0001t0003g0062 others(10): Show |
15 | 68 | 0.2206 | 5 | c.103 others(24): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11504367 | G | GAAAGA | intron_variant | MODIFIER | HG00733.hp2 HG02257.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0003t0004others(1): Show | a0001c0001t0003g0078 a0001c0001t0005g0079 a0001c0003t0004g0075 others(1): Show |
4 | 110 | 0.0364 | 5 | c.-2+ others(20): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90713652 | G | GTGTGT | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02486.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0001c0001t0002a0006c0013t0002 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(4): Show |
7 | 250 | 0.0280 | 5 | c.-37 others(16): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 3693 | chr15 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90738564 | A | AAAAAC | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(108): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0053 others(107): Show |
111 | 248 | 0.4476 | 5 | c.-4- others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90784351 | T | TTTTTG | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01167.hp2 others(32): Show |
a0001a0002a0009 | a0001c0001a0001c0009a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0049 others(31): Show |
35 | 256 | 0.1367 | 5 | c.266 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96194768 | A | ATTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00642.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0071 others(48): Show |
52 | 105 | 0.4952 | 5 | c.125 others(24): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96259670 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0048 others(12): Show |
15 | 19 | 0.7895 | 5 | c.47+ others(22): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276314 | C | CCATCT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 others(25): Show |
49 | 376 | 0.1303 | 5 | c.398 others(20): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276385 | C | CCCTCT | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp1 HG02145.hp1 others(13): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0005a0003c0005t0005 | a0001c0003t0005g0011 a0001c0003t0005g0023 a0001c0003t0005g0046 others(6): Show |
16 | 375 | 0.0427 | 5 | c.398 others(20): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281693 | A | AAAAAT | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01192.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0011a0002c0002t0003 | a0001c0001t0004g0006 a0001c0001t0004g0174 a0001c0001t0004g0176 others(9): Show |
18 | 197 | 0.0914 | 5 | c.173 others(20): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281693 | A | AAATAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(56): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 others(32): Show |
59 | 238 | 0.2479 | 5 | c.173 others(20): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281693 | A | ATATAT | intron_variant | MODIFIER | HG02258.hp1 NA18971.hp2 NA20129.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0006a0003c0005t0005 | a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0006g0183 others(1): Show |
4 | 183 | 0.0219 | 5 | c.173 others(20): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8013216 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(147): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(141): Show |
150 | 153 | 0.9804 | 5 | c.*24 others(16): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 350 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8022575 | T | TTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(72): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(66): Show |
75 | 361 | 0.2078 | 5 | c.384 others(22): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar |