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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL2L13_chr22_17633757_17735855 | 17666200 | A | ATTTTTAT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00733.hp1 others(92): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0003g0002a0001c0001t0003g0021a0001c0001t0003g0022others(92): Show | 95 | 306 | 0.3105 | 7 | c.121 others(26): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17685760 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0099a0001c0001t0002g0100a0001c0001t0002g0112others(27): Show | 30 | 306 | 0.0980 | 7 | c.229 others(24): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L14_chr12_12065939_12104695 | 12078797 | C | CTTTTGTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(403): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(336): Show | 406 | 454 | 0.8943 | 7 | c.-7- others(20): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL2L14_chr12_12065939_12104695 | 12078799 | G | GTTGTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01167.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0001g0039a0001c0001t0001g0306a0001c0002t0001g0300others(31): Show | 38 | 454 | 0.0837 | 7 | c.-7- others(20): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL2_chr18_63118346_63324769 | 63133319 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0003g0105a0001c0001t0003g0107a0001c0001t0003g0144others(21): Show | 24 | 264 | 0.0909 | 7 | c.586 others(24): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63169329 | T | TTCCTTTC | intron_variant | MODIFIER | HG03831.hp1 HG04228.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0003 | a0001c0001t0003g0205a0001c0002t0002g0051a0001c0002t0003g0249 | 3 | 264 | 0.0114 | 7 | c.586 others(26): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BCL3_chr19_44743708_44765044 | 44764194 | G | GGGAGAGA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00673.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0012a0001c0001t0003g0016a0001c0001t0003g0059others(26): Show | 48 | 344 | 0.1395 | 7 | c.*45 others(18): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4151 | chr19 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122049031 | A | ATATATAT | intron_variant | MODIFIER | HG00621.hp1 NA18747.hp1 NA19089.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0030a0001c0001t0097a0003c0008t0035 | a0001c0001t0030g0195a0001c0001t0097g0258a0003c0008t0035g0002 | 3 | 362 | 0.0083 | 7 | c.439 others(24): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
BCL7A_chr12_122016884_122067044 | 122049033 | A | ATATATAT | intron_variant | MODIFIER | NA18612.hp2 NA18941.hp1 NA18957.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0030a0001c0001t0035a0001c0001t0091others(1): Show | a0001c0001t0030g0179a0001c0001t0035g0020a0001c0001t0091g0245others(1): Show | 4 | 362 | 0.0111 | 7 | c.439 others(24): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19994741 | T | TATATATA | upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 207 | 0.0048 | 7 | c.-38 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 3681 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995658 | A | AGGGAGGG | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0035others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0023a0001c0001t0002g0024others(5): Show | 8 | 207 | 0.0387 | 7 | c.-47 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4598 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995662 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0016 | 1 | 207 | 0.0048 | 7 | c.-47 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4602 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995662 | A | AAGAAAGG | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG03139.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0002g0026a0001c0001t0003g0081a0001c0001t0003g0082others(4): Show | 7 | 207 | 0.0338 | 7 | c.-47 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4602 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995668 | G | GAAAGAAA | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 207 | 0.0048 | 7 | c.-47 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4608 | chrX | TogoVar | ||||||
BCLAF3_chrX_19907860_19996061 | 19995708 | G | GGGAGGAA | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 207 | 0.0048 | 7 | c.-48 others(18): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4648 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81247881 | C | CCCACCAT | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01074.hp2 others(9): Show |
a0001a0002a0012 | a0001c0005a0002c0006a0012c0012 | a0001c0005t0001a0002c0006t0001a0012c0012t0001 | a0001c0005t0001g0020a0001c0005t0001g0021a0001c0005t0001g0022others(9): Show | 12 | 402 | 0.0299 | 7 | c.193 others(24): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCO1_chr16_81233689_81296142 | 81262841 | A | ACAAAAAC | intron_variant | MODIFIER | HG01081.hp1 HG02451.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0262a0001c0001t0001g0263a0001c0001t0001g0269others(4): Show | 7 | 402 | 0.0174 | 7 | c.471 others(22): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112192925 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(33): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0008a0001c0022others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0013others(30): Show | 36 | 380 | 0.0947 | 7 | c.294 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130003374 | C | CTTCTTCT | intron_variant | MODIFIER | HG02630.hp1 HG03041.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0002 | a0001c0001t0002g0099a0001c0001t0007g0057a0001c0001t0007g0059others(1): Show | 4 | 203 | 0.0197 | 7 | c.-44 others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130011574 | G | GTAACTTC | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp1 others(131): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(131): Show | 134 | 203 | 0.6601 | 7 | c.87- others(22): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 2/13 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043769 | T | TATATATA | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 203 | 0.0049 | 7 | c.484 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043784 | A | ATATATTT | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 203 | 0.0049 | 7 | c.484 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATATA | intron_variant | MODIFIER | HG02735.hp1 HG03041.hp1 HG03486.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0014a0001c0022others(1): Show | a0001c0001t0001a0001c0014t0013a0001c0022t0001others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0089a0001c0014t0013g0138others(2): Show | 5 | 203 | 0.0246 | 7 | c.484 others(26): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40056281 | T | TAAAAAAA | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0120a0001c0001t0001g0126a0001c0001t0002g0025others(2): Show | 5 | 257 | 0.0195 | 7 | c.459 others(24): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 11/14 | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23180591 | C | CGGCGGCA | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0206a0001c0004t0007a0001c0004t0014others(50): Show | a0001c0002t0206g0177a0001c0004t0007g0014a0001c0004t0007g0062others(65): Show | 68 | 296 | 0.2297 | 7 | c.-37 others(16): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/23 | 369 | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23201455 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(198): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(27): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(154): Show | a0001c0001t0004g0240a0001c0001t0011g0223a0001c0001t0013g0243others(195): Show | 201 | 296 | 0.6791 | 7 | c.127 others(28): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCR_chr22_23175509_23323037 | 23252260 | T | TGGTAGGA | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01192.hp1 others(4): Show |
a0003a0009 | a0003c0008a0003c0031a0009c0025 | a0003c0008t0005a0003c0031t0129a0009c0025t0190 | a0003c0008t0005g0079a0003c0008t0005g0082a0003c0008t0005g0083others(4): Show | 7 | 296 | 0.0237 | 7 | c.128 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GTGTGTGT | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG02080.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0116a0001c0001t0186a0001c0001t0213 | a0001c0001t0116g0253a0001c0001t0186g0196a0001c0001t0213g0080 | 3 | 319 | 0.0094 | 7 | c.*12 others(18): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510684 | G | GTGTGTGT | 3_prime_UTR_variant | MODIFIER | HG02735.hp2 HG02886.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0001t0117a0001c0002t0046 | a0001c0001t0039g0008a0001c0001t0117g0029a0001c0002t0046g0012 | 3 | 319 | 0.0094 | 7 | c.*12 others(18): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1210 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197542521 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01261.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(14): Show | a0001c0001t0003g0092a0001c0001t0003g0104a0001c0001t0008g0307others(15): Show | 19 | 319 | 0.0596 | 7 | c.83+ others(22): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 3/7 | chr3 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27689883 | C | CCCCTGCT | intron_variant | MODIFIER | HG02895.hp1 HG02965.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018a0001c0001t0010g0019a0001c0001t0010g0062others(2): Show | 7 | 360 | 0.0194 | 7 | c.-22 others(26): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BDNF_chr11_27649893_27705455 | 27698226 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0025 | a0001c0001t0002g0192a0002c0002t0002g0038a0002c0002t0002g0039others(10): Show | 18 | 360 | 0.0500 | 7 | c.-22 others(24): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66433584 | A | AAGCCAAT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00741.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0257a0001c0001t0001g0258others(21): Show | 25 | 298 | 0.0839 | 7 | c.-82 others(24): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BEGAIN_chr14_100532147_100592417 | 100583692 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0046others(10): Show | 13 | 326 | 0.0399 | 7 | c.42+ others(22): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18201396 | C | CAAAAAAA | intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0006 | a0004c0006t0010 | a0004c0006t0010g0147 | 1 | 295 | 0.0034 | 7 | c.103 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 6/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18201427 | A | AAAAAAAC | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0009 | 1 | 295 | 0.0034 | 7 | c.103 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 6/13 | chrX | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18212092 | C | CTTTTTTT | intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0006 | a0004c0006t0010 | a0004c0006t0010g0147 | 1 | 295 | 0.0034 | 7 | c.492 others(22): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 4/13 | chrX | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107086433 | G | GGTGAAAC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0019 | a0001c0001t0012a0001c0001t0017a0001c0004t0021others(2): Show | a0001c0001t0012g0219a0001c0001t0012g0220a0001c0001t0017g0201others(3): Show | 6 | 368 | 0.0163 | 7 | c.240 others(26): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
BEND5_chr1_48722519_48781891 | 48769526 | A | ACACACAC | intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0101a0001c0001t0002g0100a0001c0002t0002g0102 | 3 | 342 | 0.0088 | 7 | c.226 others(24): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13479808 | T | TGTCCTTC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(115): Show | 131 | 300 | 0.4367 | 7 | c.106 others(26): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13518286 | A | AGCAGGCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(58): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(54): Show | 61 | 300 | 0.2033 | 7 | c.145 others(24): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61965339 | A | AGTATGAC | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(70): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0017 | a0001c0001t0001a0001c0009t0001a0005c0017t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(27): Show | 73 | 410 | 0.1781 | 7 | c.*12 others(18): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 879 | chr11 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0092a0001c0001t0004g0040a0001c0001t0004g0041others(13): Show | 16 | 366 | 0.0437 | 7 | c.482 others(24): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BET1L_chr11_197924_212399 | 205057 | T | TGGGGGAG | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034a0001c0001t0035others(5): Show | a0001c0001t0003g0002a0001c0001t0003g0032a0001c0001t0003g0039others(7): Show | 72 | 402 | 0.1791 | 7 | c.*23 others(16): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 4/4 | 244 | chr11 | TogoVar | |||||
BEX1_chrX_103057651_103069171 | 103066030 | T | TGTGTGTA | upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 339 | 0.0030 | 7 | c.-20 others(18): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1860 | chrX | TogoVar | ||||||
BEX1_chrX_103057651_103069171 | 103066059 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02165.hp1 NA18941.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 3 | 339 | 0.0089 | 7 | c.-20 others(18): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1889 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102157010 | A | AAAAGAAG | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | 7 | c.-12 others(18): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 1034 | chrX | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425785 | G | GAAAGGGA | intron_variant | MODIFIER | HG02257.hp1 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0137a0001c0001t0001g0263 | 3 | 276 | 0.0109 | 7 | c.490 others(26): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153496948 | G | GCCCACCC | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0017a0001c0001t0026others(22): Show | a0001c0001t0005g0057a0001c0001t0017g0022a0001c0001t0026g0022others(25): Show | 31 | 321 | 0.0966 | 7 | c.-12 others(24): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153499773 | T | TGTGGATG | intron_variant | MODIFIER | NA19075.hp1 | a0007 | a0007c0008 | a0007c0008t0034 | a0007c0008t0034g0176 | 1 | 321 | 0.0031 | 7 | c.-12 others(24): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |