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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCO1_chr16_81233689_81296142 | 81235157 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 402 | 0.0025 | -12 | c.-37 others(23): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3531 | chr16 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81242192 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18990.hp1 NA18993.hp2 NA19000.hp2 |
a0002a0003 | a0002c0006a0003c0003 | a0002c0006t0001a0003c0003t0001 | a0002c0006t0001g0364a0003c0003t0001g0363a0003c0003t0001g0365 | 3 | 402 | 0.0075 | -12 | c.64+ others(27): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO2_chr11_112170512_112223946 | 112213131 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0349a0001c0001t0001g0350 | 3 | 380 | 0.0079 | -12 | c.119 others(29): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 129989444 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01167.hp1 others(33): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0014others(33): Show | 36 | 203 | 0.1773 | -12 | c.-45 others(29): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCOR_chrX_40046251_40102958 | 40046522 | TTATATAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp1 NA19074.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0136a0001c0002t0007g0050 | 2 | 257 | 0.0078 | -12 | c.*55 others(23): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080815 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01255.hp1 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0055a0001c0001t0001g0068others(19): Show | 23 | 257 | 0.0895 | -12 | c.-40 others(29): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40080977 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 257 | 0.0039 | -12 | c.-40 others(29): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23194391 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01346.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0174a0001c0005t0176a0001c0005t0191 | a0001c0004t0174g0015a0001c0005t0176g0008a0001c0005t0191g0009 | 3 | 296 | 0.0101 | -12 | c.127 others(33): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23206937 | TCATTCCT others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG06807.hp1 NA18906.hp1 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0007a0004c0011 | a0001c0002t0113a0002c0007t0207a0004c0011t0125others(2): Show | a0001c0002t0113g0212a0002c0007t0207g0017a0004c0011t0125g0279others(2): Show | 5 | 296 | 0.0169 | -12 | c.127 others(33): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23296373 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0020 | a0001c0020t0157 | a0001c0020t0157g0194 | 1 | 296 | 0.0034 | -12 | c.301 others(31): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BDKRB2_chr14_96199839_96249164 | 96206028 | GTTGGAGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp1 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0078others(65): Show | 79 | 436 | 0.1812 | -12 | c.-40 others(29): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDKRB2_chr14_96199839_96249164 | 96213495 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0135others(22): Show | 25 | 436 | 0.0573 | -12 | c.-40 others(29): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDKRB2_chr14_96199839_96249164 | 96228624 | TGGGTATA others(5): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 436 | 0.0023 | -12 | c.-39 others(29): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDNF_chr11_27649893_27705455 | 27659646 | TGTGCGCG others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG03139.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(2): Show | a0001c0001t0001g0134a0001c0001t0001g0152a0001c0001t0001g0169others(6): Show | 10 | 360 | 0.0278 | -12 | c.-21 others(29): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27698226 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0076 | 1 | 360 | 0.0028 | -12 | c.-22 others(29): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71451104 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG02015.hp2 others(10): Show |
a0001a0003a0006others(4): Show | a0001c0001a0003c0003a0006c0007others(4): Show | a0001c0001t0002a0003c0003t0001a0006c0007t0002others(4): Show | a0001c0001t0002g0018a0001c0001t0002g0087a0003c0003t0001g0286others(10): Show | 13 | 325 | 0.0400 | -12 | c.-47 others(23): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4546 | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71451146 | CACACACA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp2 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0193 | 1 | 325 | 0.0031 | -12 | c.-47 others(23): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4504 | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71480277 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0109 | 1 | 325 | 0.0031 | -12 | c.101 others(31): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71506786 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0012 | 1 | 325 | 0.0031 | -12 | c.237 others(31): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71524633 | ATTTTTTA others(5): Show |
A | intron_variant | MODIFIER | HG03209.hp1 HG03516.hp1 |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0108a0006c0007t0002g0109 | 2 | 325 | 0.0062 | -12 | c.577 others(29): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71557375 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(97): Show |
a0002a0010a0011others(12): Show | a0002c0002a0002c0039a0002c0041others(14): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(18): Show | a0002c0002t0001g0132a0002c0002t0001g0135a0002c0002t0001g0136others(96): Show | 100 | 325 | 0.3077 | -12 | c.724 others(29): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66445475 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0014a0001c0001t0002g0120a0001c0001t0002g0121others(4): Show | 7 | 298 | 0.0235 | -12 | c.25+ others(27): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66461569 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01255.hp1 HG01934.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0249others(6): Show | 10 | 298 | 0.0336 | -12 | c.26- others(27): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEAN1_chr16_66422295_66487833 | 66470170 | CGATGGAT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(43): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0051a0001c0001t0001g0053others(42): Show | 46 | 298 | 0.1544 | -12 | c.289 others(27): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01099.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0000a0002c0002t0000a0003c0003t0000others(2): Show | a0001c0001t0000g0000a0002c0002t0000g0000a0003c0003t0000g0000others(2): Show | 31 | 444 | 0.0698 | -12 | c.-72 others(21): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | ||||||
BECN2_chr1_241952767_241964062 | 241957051 | ATGTGTGT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02074.hp1 HG02280.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 7 | 444 | 0.0158 | -12 | c.-71 others(21): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 715 | chr1 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100543292 | GTGTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0204 | 1 | 326 | 0.0031 | -12 | c.408 others(27): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 5/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546776 | GCGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG03098.hp2 NA19240.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0202a0001c0008t0001g0066 | 2 | 326 | 0.0061 | -12 | c.72- others(25): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546778 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | NA19068.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081 | 2 | 326 | 0.0061 | -12 | c.72- others(25): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546780 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02056.hp2 NA18964.hp2 NA18973.hp1 others(9): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0004a0001c0004t0001g0034a0001c0004t0003g0028others(8): Show | 12 | 326 | 0.0368 | -12 | c.72- others(25): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100585194 | CCCATCCA others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0202 | 1 | 326 | 0.0031 | -12 | c.42+ others(27): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100585221 | ATCCATCC others(5): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278 | 1 | 326 | 0.0031 | -12 | c.42+ others(27): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18185533 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG03098.hp1 HG03669.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(1): Show | 4 | 295 | 0.0136 | -12 | c.128 others(31): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18205605 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 295 | 0.0034 | -12 | c.493 others(29): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 4/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18224006 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG02083.hp1 others(23): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0071a0001c0001t0002g0218a0001c0001t0002g0243others(22): Show | 26 | 295 | 0.0881 | -12 | c.-32 others(23): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3121 | chrX | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(5): Show |
G | intron_variant | MODIFIER | HG03017.hp2 NA18953.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0019 | a0001c0001t0002g0013a0001c0001t0003g0010a0001c0001t0003g0331others(1): Show | 4 | 368 | 0.0109 | -12 | c.241 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02155.hp2 NA18941.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0014others(1): Show | a0001c0001t0004g0314a0001c0002t0001g0118a0001c0002t0001g0273others(4): Show | 7 | 368 | 0.0190 | -12 | c.241 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107094621 | CATAAATA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0023a0001c0001t0034others(1): Show | a0001c0001t0010g0216a0001c0001t0023g0112a0001c0001t0034g0215others(1): Show | 4 | 368 | 0.0109 | -12 | c.240 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107103955 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp2 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0071a0001c0005t0007g0076 | 2 | 368 | 0.0054 | -12 | c.-11 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107103959 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0050a0001c0002t0001others(2): Show | a0001c0001t0004g0043a0001c0001t0004g0073a0001c0001t0050g0075others(4): Show | 7 | 368 | 0.0190 | -12 | c.-11 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107111981 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01168.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0040others(2): Show | a0001c0001t0002g0114a0001c0001t0002g0268a0001c0001t0005g0297others(4): Show | 7 | 368 | 0.0190 | -12 | c.-12 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48735515 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01069.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0107a0001c0001t0001g0122others(17): Show | 24 | 342 | 0.0702 | -12 | c.110 others(29): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48762612 | TTTTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0002 | a0001c0001t0002g0100a0001c0001t0002g0175a0001c0001t0002g0176others(4): Show | 9 | 342 | 0.0263 | -12 | c.227 others(29): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48762614 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 342 | 0.0029 | -12 | c.227 others(29): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48779704 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295a0001c0001t0001g0296 | 2 | 342 | 0.0059 | -12 | c.-28 others(23): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 2814 | chr1 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61952303 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0024 | a0004c0024t0001 | a0004c0024t0001g0179 | 1 | 410 | 0.0024 | -12 | c.152 others(27): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BEST1_chr11_61945351_61969461 | 61958895 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01255.hp2 HG02040.hp1 others(23): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0029a0001c0001t0001g0077others(15): Show | 26 | 410 | 0.0634 | -12 | c.868 others(27): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BEST3_chr12_69648609_69704303 | 69665608 | CACAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(164): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0006a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(141): Show | 167 | 366 | 0.4563 | -12 | c.110 others(31): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69700888 | TTTCCTTC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01361.hp1 HG01361.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0272a0001c0001t0001g0300a0001c0001t0002g0012others(21): Show | 25 | 366 | 0.0683 | -12 | c.-17 others(23): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1586 | chr12 | TogoVar | ||||||
BEST4_chr1_44778585_44793170 | 44782556 | GGCGGTGG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -12 | c.*16 others(23): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 1028 | chr1 | TogoVar |