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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK1_chr19_55278997_55317562 | 55307747 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03834.hp2 NA20805.hp2 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0002a0004c0012t0002 | a0001c0001t0002g0048a0001c0001t0002g0275a0004c0012t0002g0119 | 3 | 338 | 0.0089 | -8 | c.209 others(25): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1446076 | GGCTGGGC others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02717.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0003a0002c0005t0005a0002c0005t0034 | a0001c0003t0003g0291a0002c0005t0005g0289a0002c0005t0034g0055others(1): Show | 4 | 360 | 0.0111 | -8 | c.122 others(25): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39203434 | GGTTCTTT others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG02559.hp1 HG02572.hp2 others(8): Show |
a0004 | a0004c0003 | a0004c0003t0008a0004c0003t0017 | a0004c0003t0008g0018a0004c0003t0008g0026a0004c0003t0008g0027others(8): Show | 11 | 338 | 0.0325 | -8 | c.436 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 37/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39244921 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(56): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0024a0007c0025others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0021others(56): Show | 59 | 338 | 0.1746 | -8 | c.248 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02559.hp1 HG02572.hp2 others(14): Show |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0019a0004c0003t0008a0004c0003t0017others(3): Show | a0003c0004t0019g0076a0003c0004t0019g0077a0004c0003t0008g0018others(14): Show | 17 | 338 | 0.0503 | -8 | c.235 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39249913 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01433.hp2 HG02074.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0002g0021a0001c0001t0002g0039a0001c0001t0002g0064others(11): Show | 14 | 338 | 0.0414 | -8 | c.234 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39249915 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00642.hp2 others(58): Show |
a0002a0003a0004others(3): Show | a0002c0002a0002c0010a0003c0011others(4): Show | a0002c0002t0001a0002c0002t0022a0002c0002t0023others(13): Show | a0002c0002t0001g0184a0002c0002t0001g0185a0002c0002t0001g0186others(58): Show | 61 | 338 | 0.1805 | -8 | c.234 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39279649 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01070.hp2 others(35): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0010a0003c0004t0014others(2): Show | a0003c0004t0005g0091a0003c0004t0005g0096a0003c0004t0005g0097others(35): Show | 38 | 338 | 0.1124 | -8 | c.932 others(23): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 9/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39292124 | GGTGGGGG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(65): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0008a0001c0020others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0020a0001c0001t0002g0038a0001c0001t0002g0040others(65): Show | 68 | 338 | 0.2012 | -8 | c.831 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80672431 | GAGGAATG others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0063 | 1 | 265 | 0.0038 | -8 | c.*41 others(19): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 41/41 | 4170 | chrX | TogoVar | |||||
BRWD3_chrX_80664503_80814877 | 80686346 | CACCAACA others(1): Show |
C | intron_variant | MODIFIER | HG03710.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0101a0001c0001t0119 | a0001c0001t0101g0157a0001c0001t0119g0179 | 2 | 265 | 0.0076 | -8 | c.400 others(25): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 35/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80696519 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021a0001c0001t0022others(4): Show | a0001c0001t0008g0126a0001c0001t0021g0143a0001c0001t0022g0156others(7): Show | 10 | 265 | 0.0377 | -8 | c.306 others(25): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 26/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80730389 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01256.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0020others(5): Show | a0001c0001t0010g0078a0001c0001t0012g0148a0001c0001t0012g0149others(8): Show | 11 | 265 | 0.0415 | -8 | c.112 others(25): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80731894 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0148 | a0001c0001t0148g0251 | 1 | 265 | 0.0038 | -8 | c.112 others(27): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80750857 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0089a0001c0001t0158 | a0001c0001t0089g0129a0001c0001t0158g0261 | 2 | 265 | 0.0076 | -8 | c.431 others(25): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80788085 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01515.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0004g0081a0001c0001t0008g0125a0001c0001t0010g0078others(10): Show | 13 | 265 | 0.0491 | -8 | c.430 others(25): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809759 | AAGAGAGA others(1): Show |
A | 5_prime_UTR_variant | MODIFIER | HG03041.hp1 NA18970.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0104a0001c0001t0151a0001c0004t0108 | a0001c0001t0104g0162a0001c0001t0151g0254a0001c0004t0108g0166 | 3 | 265 | 0.0113 | -8 | c.-29 others(17): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | |||||
BSDC1_chr1_32359633_32399441 | 32360845 | CATAGATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0053others(7): Show | 10 | 170 | 0.0588 | -8 | c.*57 others(19): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3787 | chr1 | TogoVar | ||||||
BSDC1_chr1_32359633_32399441 | 32360891 | TAGATGAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0090 | 2 | 170 | 0.0118 | -8 | c.*57 others(19): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3741 | chr1 | TogoVar | ||||||
BSDC1_chr1_32359633_32399441 | 32389784 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022a0001c0001t0009g0023 | 2 | 170 | 0.0118 | -8 | c.73- others(23): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570594 | GGCGGAGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02451.hp2 HG02486.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0003a0001c0001t0021a0001c0002t0001others(3): Show | a0001c0001t0003g0048a0001c0001t0003g0051a0001c0001t0003g0069others(7): Show | 10 | 306 | 0.0327 | -8 | c.-20 others(19): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2001 | chr19 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 54999518 | CCCATCCA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01081.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(37): Show | a0001c0001t0001g0004a0001c0001t0001g0071a0001c0001t0001g0076others(39): Show | 60 | 448 | 0.1339 | -8 | c.177 others(23): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49613303 | CGAGAGAG others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 |
a0002a0014 | a0002c0020a0014c0037 | a0002c0020t0024a0014c0037t0025 | a0002c0020t0024g0166a0014c0037t0025g0052 | 2 | 186 | 0.0108 | -8 | c.225 others(27): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSPH1_chr19_47963046_47997170 | 47969684 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(89): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0310a0001c0001t0002g0003a0001c0001t0002g0004others(87): Show | 92 | 444 | 0.2072 | -8 | c.*3- others(23): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47975649 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0087a0001c0001t0001g0088others(39): Show | 43 | 444 | 0.0969 | -8 | c.*2+ others(23): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113357886 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 NA19240.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0212a0001c0001t0004g0096a0001c0001t0004g0173others(1): Show | 4 | 448 | 0.0089 | -8 | c.301 others(25): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BSPRY_chr9_113344541_113376222 | 113362174 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009a0001c0002t0014others(1): Show | a0001c0002t0004g0207a0001c0002t0009g0208a0001c0002t0009g0210others(2): Show | 7 | 448 | 0.0156 | -8 | c.532 others(23): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BST2_chr19_17397939_17410630 | 17402491 | AAAAGAGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(112): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0030others(1): Show | 115 | 412 | 0.2791 | -8 | c.*84 others(17): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 447 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410523 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 412 | 0.0073 | -8 | c.-49 others(19): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4894 | chr19 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91942298 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03209.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0321a0001c0001t0007g0322a0001c0001t0007g0323 | 3 | 330 | 0.0091 | -8 | c.254 others(21): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 91959738 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(49): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0002g0165a0001c0001t0002g0171a0001c0001t0002g0172others(49): Show | 52 | 330 | 0.1576 | -8 | c.991 others(21): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 91959740 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00673.hp1 others(65): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0042a0001c0001t0001g0043others(64): Show | 68 | 330 | 0.2061 | -8 | c.991 others(21): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTAF1_chr10_91918770_92036437 | 92001969 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0181a0001c0001t0003g0191a0001c0001t0003g0209others(4): Show | 7 | 330 | 0.0212 | -8 | c.366 others(27): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD10_chr11_13383008_13468222 | 13467708 | TCCCAAGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG02055.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0013a0001c0001t0001g0067a0001c0001t0001g0069others(23): Show | 27 | 356 | 0.0758 | -8 | c.-46 others(19): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 4487 | chr11 | TogoVar | ||||||
BTBD16_chr10_122266296_122343159 | 122284673 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0007a0001c0018others(10): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(88): Show | 99 | 382 | 0.2592 | -8 | c.241 others(23): Show |
BTBD16 | ENSG00000138152.10 | transcript | ENST00000260723.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD16_chr10_122266296_122343159 | 122334494 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(68): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0007a0001c0028others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(63): Show | 71 | 382 | 0.1859 | -8 | c.116 others(25): Show |
BTBD16 | ENSG00000138152.10 | transcript | ENST00000260723.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTBD18_chr11_57738514_57756819 | 57754643 | CCCTCCCT others(1): Show |
C | upstream_gene_variant | MODIFIER | NA18945.hp2 NA18950.hp2 NA18957.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0097 | 5 | 354 | 0.0141 | -8 | c.-31 others(19): Show |
BTBD18 | ENSG00000233436.8 | transcript | ENST00000422652.6 | protein_coding | 2825 | chr11 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44812786 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0001g0058a0001c0001t0007g0051a0001c0001t0007g0063others(7): Show | 10 | 436 | 0.0229 | -8 | c.415 others(23): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTBD19_chr1_44803523_44820585 | 44814148 | CTCTTTCT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01346.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0025a0001c0001t0064others(3): Show | a0001c0001t0017g0004a0001c0001t0017g0011a0001c0001t0017g0012others(9): Show | 13 | 436 | 0.0298 | -8 | c.*43 others(17): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 434 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
BTBD19_chr1_44803523_44820585 | 44814227 | TTTCCTTC others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18944.hp2 NA18969.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0079a0001c0001t0080 | a0001c0001t0031g0021a0001c0001t0031g0090a0001c0001t0079g0021others(1): Show | 5 | 436 | 0.0115 | -8 | c.*47 others(17): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 475 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
BTBD1_chr15_83011423_83072252 | 83019823 | CTGACCTC others(1): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02738.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0045a0001c0001t0002g0046others(1): Show | 4 | 328 | 0.0122 | -8 | c.114 others(25): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 6/7 | chr15 | TogoVar | ||||||
BTBD1_chr15_83011423_83072252 | 83022835 | ACCGTAGT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0108a0001c0001t0004g0109a0001c0001t0004g0110others(4): Show | 7 | 328 | 0.0213 | -8 | c.105 others(27): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 5/7 | chr15 | TogoVar | ||||||
BTBD1_chr15_83011423_83072252 | 83042374 | ATATGTAT others(1): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01884.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011 | a0001c0001t0002g0017a0001c0001t0002g0019a0001c0001t0002g0020others(23): Show | 26 | 328 | 0.0793 | -8 | c.665 others(23): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 3/7 | chr15 | TogoVar | ||||||
BTBD1_chr15_83011423_83072252 | 83042396 | TATAGAGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(98): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0019others(98): Show | 101 | 328 | 0.3079 | -8 | c.665 others(23): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 3/7 | chr15 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1983398 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG03098.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0006a0004c0007others(2): Show | a0001c0001t0015a0003c0006t0002a0003c0006t0004others(3): Show | a0001c0001t0015g0239a0003c0006t0002g0140a0003c0006t0004g0138others(4): Show | 7 | 364 | 0.0192 | -8 | c.*30 others(19): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2049 | chr19 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93247328 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01255.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0017a0002c0002t0008a0002c0002t0010others(13): Show | a0001c0001t0017g0282a0001c0001t0017g0283a0002c0002t0008g0135others(30): Show | 33 | 375 | 0.0880 | -8 | c.212 others(27): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93300704 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0034a0001c0001t0001g0047others(13): Show | 16 | 375 | 0.0427 | -8 | c.-10 others(27): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93308297 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(91): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0010 | a0001c0001t0002a0001c0001t0012a0001c0001t0032others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0285a0001c0001t0002g0286others(90): Show | 94 | 375 | 0.2507 | -8 | c.-10 others(29): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93313679 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(86): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0002a0001c0001t0012a0001c0001t0033others(9): Show | a0001c0001t0002g0285a0001c0001t0002g0286a0001c0001t0002g0290others(86): Show | 89 | 375 | 0.2373 | -8 | c.-10 others(29): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD8_chr1_92075345_92189723 | 92076539 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01891.hp2 others(5): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0006c0011t0001others(2): Show | a0001c0001t0001g0061a0001c0001t0001g0099a0001c0001t0001g0144others(5): Show | 8 | 158 | 0.0506 | -8 | c.-40 others(19): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3805 | chr1 | TogoVar |