view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GNTL1_chr17_82937149_83056770 | 82971683 | C | CGACCACA others(32): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0155 others(56): Show |
59 | 220 | 0.2682 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971716 | T | CGGTACTG others(32): Show |
intron_variant | MODIFIER | NA19064.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0159 a0001c0001t0004g0229 |
2 | 234 | 0.0085 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971716 | T | TGGTACTG others(32): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0093 | 1 | 233 | 0.0043 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971758 | T | TGCCGACC others(32): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01515.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0009 | a0001c0001t0006a0002c0005t0007a0002c0009t0003 | a0001c0001t0006g0165 a0002c0005t0007g0238 a0002c0009t0003g0092 others(1): Show |
4 | 266 | 0.0150 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971825 | G | GAAGGACC others(32): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG01496.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0036others(5): Show | a0001c0001t0002g0065 a0001c0001t0002g0153 a0001c0001t0004g0246 others(10): Show |
13 | 207 | 0.0628 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971956 | C | CCACCACA others(32): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015 | a0001c0001t0012g0149 a0001c0001t0015g0252 |
2 | 257 | 0.0078 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972132 | T | TAGAAGGA others(32): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01168.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0020others(10): Show | a0001c0001t0001g0052 a0001c0001t0006g0165 a0001c0001t0006g0183 others(17): Show |
20 | 242 | 0.0826 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972255 | C | CGGTACTG others(32): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03579.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0006g0129 |
3 | 173 | 0.0173 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972300 | T | TGACCACA others(32): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00735.hp1 others(66): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0185 a0001c0001t0002g0177 a0001c0001t0004g0250 others(62): Show |
69 | 163 | 0.4233 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972873 | C | CGGTACTG others(32): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0011others(26): Show | a0001c0001t0004g0250 a0001c0001t0004g0256 a0001c0001t0004g0258 others(57): Show |
63 | 239 | 0.2636 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972873 | C | CGGTACTG others(32): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(18): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0185 a0001c0001t0002g0059 a0001c0001t0005g0255 others(17): Show |
21 | 197 | 0.1066 | 39 | c.460 others(56): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33126594 | A | AAACATTG others(32): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0005 | a0004c0005t0043 | a0004c0005t0043g0287 | 1 | 259 | 0.0039 | 39 | c.649 others(56): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33126594 | A | AAACATTG others(32): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00642.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(66): Show |
74 | 332 | 0.2229 | 39 | c.649 others(56): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28112173 | C | CCCTTCCT others(32): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 150 | 0.0067 | 39 | c.571 others(58): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112177 | C | CCCTTCCT others(32): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143 a0001c0001t0002g0151 |
2 | 146 | 0.0137 | 39 | c.571 others(58): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112185 | C | CCCTTCCT others(32): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 136 | 0.0074 | 39 | c.571 others(58): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0111 | 1 | 100 | 0.0100 | 39 | c.-16 others(58): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0029 | a0001c0004t0029g0003 | 1 | 53 | 0.0189 | 39 | c.-16 others(60): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60735929 | G | GTTAAGTG others(32): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(13): Show |
16 | 74 | 0.2162 | 39 | c.322 others(58): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAATAT others(32): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 25 | 0.0400 | 39 | c.202 others(58): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80177225 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0101 | 1 | 49 | 0.0204 | 39 | c.742 others(56): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467597 | G | GTGGTAGT others(32): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0209 | 1 | 207 | 0.0048 | 39 | c.487 others(56): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467822 | A | ATGGTGGT others(32): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02056.hp2 HG02080.hp1 others(19): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0046 others(19): Show |
22 | 214 | 0.1028 | 39 | c.487 others(54): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467834 | G | GTGGTGAT others(32): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 258 | 0.0039 | 39 | c.487 others(54): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 219 | 0.0046 | 39 | c.-43 others(50): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 219 | 0.0046 | 39 | c.-43 others(50): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATTT others(32): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 219 | 0.0046 | 39 | c.-43 others(50): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117103 | T | TATATATA others(32): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 440 | 0.0023 | 39 | c.-43 others(50): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4329 | chr15 | TogoVar | |||||||
BCL2L11_chr2_111115914_111173444 | 111120979 | T | TGCCGCTG others(32): Show |
5_prime_UTR_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0041 | 1 | 45 | 0.0222 | 39 | c.-21 others(48): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 1/4 | 2761 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17720154 | T | TTTCTTTC others(32): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0239 | 1 | 109 | 0.0092 | 39 | c.601 others(56): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81235201 | A | AATAATAT others(32): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0100 | 1 | 202 | 0.0050 | 39 | c.-37 others(50): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3487 | chr16 | TogoVar | |||||||
BCR_chr22_23175509_23323037 | 23262027 | C | CGTAGCTG others(32): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0008 | a0008c0023 | a0008c0023t0183 | a0008c0023t0183g0184 | 1 | 294 | 0.0034 | 39 | c.175 others(56): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDKRB1_chr14_96251210_96269763 | 96253436 | T | TGTTTCCA others(32): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 HG03540.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0039 a0005c0009t0001g0014 |
2 | 442 | 0.0045 | 39 | c.-29 others(50): Show |
BDKRB1 | ENSG00000100739.11 | transcript | ENST00000216629.11 | protein_coding | 2773 | chr14 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58621956 | G | GAACAGAA others(32): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0022 | a0002c0003t0022g0058 | 1 | 41 | 0.0244 | 39 | c.237 others(56): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32230293 | A | AGGGGGCT others(32): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0127 | 1 | 288 | 0.0035 | 39 | c.426 others(58): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCTT others(32): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02602.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0195 others(1): Show |
4 | 110 | 0.0364 | 39 | c.*69 others(50): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCTT others(32): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0115 | 1 | 107 | 0.0093 | 39 | c.*69 others(50): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127105467 | C | CCCTCCTC others(32): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283 | 1 | 128 | 0.0078 | 39 | c.84+ others(54): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 a0001c0001t0003g0262 |
2 | 55 | 0.0364 | 39 | c.103 others(58): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAAAAT others(32): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0046 | 1 | 102 | 0.0098 | 39 | c.44+ others(54): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TTTTCTTT others(32): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02071.hp2 HG02080.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0165 others(26): Show |
29 | 156 | 0.1859 | 39 | c.-26 others(60): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(32): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0213 | 1 | 15 | 0.0667 | 39 | c.106 others(56): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15591320 | C | CGGTGGCT others(32): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 290 | 0.0034 | 39 | c.*44 others(50): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3062 | chr16 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40113056 | C | CGTGTGGG others(32): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(41): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0106 others(38): Show |
44 | 68 | 0.6471 | 39 | c.-44 others(50): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4178 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40113056 | C | CGTGTGGG others(32): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0200 a0001c0001t0002g0105 a0001c0001t0003g0199 others(1): Show |
4 | 28 | 0.1429 | 39 | c.-44 others(50): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4178 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40113056 | C | CGTGTGGG others(32): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(186): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0149 others(178): Show |
189 | 213 | 0.8873 | 39 | c.-44 others(50): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4178 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40113056 | C | CGTGTGGG others(32): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0024 others(92): Show |
101 | 125 | 0.8080 | 39 | c.-44 others(50): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4178 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40113056 | C | CGTGTGGG others(32): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02615.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0348 a0001c0001t0002g0211 a0001c0001t0006g0336 others(1): Show |
4 | 28 | 0.1429 | 39 | c.-44 others(50): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4178 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40113058 | T | TGTGGGGG others(32): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0117 | 1 | 412 | 0.0024 | 39 | c.-44 others(50): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4180 | chr15 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55764827 | A | ACACAAAA others(32): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 318 | 0.0031 | 39 | c.102 others(58): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 4/6 | chr6 | TogoVar |