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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICD1_chr12_32101847_32388633 | 32165513 | C | CACAAA | intron_variant | MODIFIER | HG03195.hp2 HG03453.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0015a0001c0001t0016a0001c0002t0005others(1): Show | a0001c0001t0015g0042a0001c0001t0016g0041a0001c0002t0005g0290others(1): Show | 4 | 290 | 0.0138 | 5 | c.214 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32215953 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01109.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0038a0001c0001t0001g0194a0001c0001t0001g0258others(22): Show | 25 | 290 | 0.0862 | 5 | c.214 others(20): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32238944 | C | CAAAAA | intron_variant | MODIFIER | HG02683.hp2 HG04184.hp2 NA18947.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0002t0001g0178a0001c0002t0002g0207a0001c0002t0002g0212others(4): Show | 7 | 290 | 0.0241 | 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 | a0001c0001t0003g0246a0001c0001t0006g0034a0001c0001t0006g0035others(28): Show | 31 | 290 | 0.1069 | 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 | a0001c0001t0006g0162a0001c0001t0018g0219a0001c0001t0018g0227 | 3 | 290 | 0.0103 | 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 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0194others(63): Show | 66 | 290 | 0.2276 | 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 | a0001c0001t0001g0182a0001c0001t0001g0258a0001c0001t0001g0276others(64): Show | 67 | 290 | 0.2310 | 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 | a0001c0001t0006g0021a0001c0001t0006g0023a0001c0001t0006g0034others(25): Show | 28 | 290 | 0.0966 | 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(94): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0038a0001c0001t0001g0049a0001c0001t0001g0059others(94): Show | 97 | 290 | 0.3345 | 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(66): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0004a0001c0001t0002g0132a0001c0001t0002g0133others(64): Show | 69 | 296 | 0.2331 | 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(160): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(160): Show | 163 | 270 | 0.6037 | 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 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0002g0249others(2): Show | 5 | 270 | 0.0185 | 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(102): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0038others(102): Show | 105 | 270 | 0.3889 | 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 | a0002c0002t0002g0108a0002c0002t0002g0143a0002c0005t0002g0097 | 3 | 312 | 0.0096 | 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 | a0001c0001t0001g0079a0001c0001t0001g0139a0001c0001t0001g0154others(53): Show | 56 | 312 | 0.1795 | 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 |
a0001a0009 | a0001c0001a0009c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0083others(22): Show | 25 | 312 | 0.0801 | 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 |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(17): Show | a0001c0001t0001g0016a0001c0001t0001g0031a0001c0001t0001g0037others(117): Show | 129 | 344 | 0.3750 | 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 | a0001c0001t0001g0079a0001c0001t0001g0211a0001c0001t0001g0271others(6): Show | 9 | 400 | 0.0225 | 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(297): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0009a0001c0019others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(277): Show | 300 | 400 | 0.7500 | 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 | a0003c0003t0001g0008a0003c0003t0001g0084 | 3 | 400 | 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 |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0011others(178): Show | 198 | 386 | 0.5130 | 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 | a0001c0001t0011g0023a0001c0001t0011g0141a0001c0001t0021g0139others(2): Show | 7 | 384 | 0.0182 | 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 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0003g0003a0001c0001t0003g0013a0001c0001t0003g0016others(18): Show | 66 | 432 | 0.1528 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0050a0001c0001t0001g0100a0001c0001t0001g0103others(21): Show | 24 | 274 | 0.0876 | 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 | a0001c0001t0001g0205a0001c0001t0001g0268a0001c0001t0001g0269 | 3 | 274 | 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 | a0001c0011t0001a0002c0038t0002 | a0001c0011t0001g0209a0002c0038t0002g0091 | 2 | 274 | 0.0073 | 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 |
a0001a0002a0006 | a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0003t0009a0001c0006t0003a0001c0007t0004others(4): Show | a0001c0003t0009g0031a0001c0006t0003g0005a0001c0006t0003g0007others(5): Show | 8 | 274 | 0.0292 | 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 | a0001c0018t0005 | a0001c0018t0005g0183a0001c0018t0005g0184 | 2 | 274 | 0.0073 | 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 | a0002c0002t0002a0002c0002t0003a0002c0004t0002others(1): Show | a0002c0002t0002g0040a0002c0002t0002g0075a0002c0002t0002g0087others(3): Show | 6 | 274 | 0.0219 | 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 | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(1): Show | a0002c0002t0002g0092a0002c0002t0003g0160a0002c0002t0010g0015others(1): Show | 4 | 274 | 0.0146 | 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 | a0001c0001t0001g0231a0001c0001t0001g0254a0001c0023t0001g0011 | 3 | 274 | 0.0110 | 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 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0039a0002c0002t0002g0075a0002c0002t0002g0087others(3): Show | 6 | 274 | 0.0219 | 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 | a0001c0001t0001a0001c0010t0002a0001c0011t0001others(1): Show | a0001c0001t0001g0215a0001c0001t0001g0238a0001c0001t0001g0243others(5): Show | 8 | 274 | 0.0292 | 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 |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0003a0001c0005t0001others(4): Show | a0001c0001t0001g0202a0001c0001t0001g0204a0001c0001t0001g0206others(15): Show | 18 | 274 | 0.0657 | 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 |
a0001a0011 | a0001c0003a0011c0028 | a0001c0003t0003a0011c0028t0002 | a0001c0003t0003g0134a0011c0028t0002g0179 | 2 | 274 | 0.0073 | 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 | a0001c0001t0002g0203a0001c0001t0004g0051a0001c0001t0004g0052others(25): Show | 33 | 404 | 0.0817 | 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 | a0001c0001t0004g0049a0001c0002t0008g0120a0001c0002t0013g0022others(1): Show | 6 | 404 | 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 | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(98): Show | 132 | 404 | 0.3267 | 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 | a0001c0001t0003g0042a0001c0001t0003g0054a0001c0001t0003g0062others(10): Show | 15 | 404 | 0.0371 | 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 | a0001c0001t0003g0078a0001c0001t0005g0079a0001c0003t0004g0075others(1): Show | 4 | 308 | 0.0130 | 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 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | 280 | 0.0250 | 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 | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0001g0052others(107): Show | 111 | 280 | 0.3964 | 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 |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0048a0001c0001t0001g0052others(32): Show | 35 | 280 | 0.1250 | 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 | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0070others(48): Show | 52 | 322 | 0.1615 | 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 | a0001c0001t0001g0010a0001c0001t0001g0047a0001c0001t0001g0048others(12): Show | 15 | 322 | 0.0466 | 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(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0017others(34): Show | 50 | 378 | 0.1323 | 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 | a0001c0003t0005g0008a0001c0003t0005g0043a0001c0003t0005g0044others(7): Show | 16 | 378 | 0.0423 | 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 | a0001c0001t0004g0018a0001c0001t0004g0039a0001c0001t0004g0193others(12): Show | 18 | 378 | 0.0476 | 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(57): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0017others(38): Show | 60 | 378 | 0.1587 | 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 | a0001c0001t0001g0162a0001c0001t0001g0166a0001c0001t0006g0206others(1): Show | 4 | 378 | 0.0106 | 5 | c.173 others(20): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar |