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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCO2_chr11_112170512_112223946 | 112192925 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(148): Show |
a0001a0005a0007others(4): Show | a0001c0001a0001c0008a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(138): Show |
151 | 165 | 0.9152 | 8 | c.294 others(23): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112211352 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01167.hp1 others(32): Show |
a0001 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(30): Show |
35 | 44 | 0.7955 | 8 | c.119 others(27): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
BCORL1_chrX_129977635_130063071 | 129997986 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0155 a0001c0005t0008g0156 |
2 | 166 | 0.0120 | 8 | c.-44 others(25): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130000894 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0006a0001c0009t0014 | a0001c0002t0006g0028 a0001c0009t0014g0082 |
2 | 192 | 0.0104 | 8 | c.-44 others(25): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043746 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02922.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0109 others(1): Show |
4 | 151 | 0.0265 | 8 | c.484 others(27): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23202721 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00735.hp2 others(48): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0189a0001c0002t0006a0001c0002t0032others(41): Show | a0001c0001t0189g0218 a0001c0002t0006g0195 a0001c0002t0032g0256 others(48): Show |
51 | 156 | 0.3269 | 8 | c.127 others(29): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23240302 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG06807.hp1 NA18906.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0007a0004c0011others(1): Show | a0001c0005t0058a0002c0007t0017a0004c0011t0170others(2): Show | a0001c0005t0058g0036 a0002c0007t0017g0061 a0004c0011t0170g0279 others(2): Show |
5 | 52 | 0.0962 | 8 | c.128 others(29): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 NA18965.hp2 NA18980.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0179 a0001c0001t0001g0192 others(1): Show |
4 | 184 | 0.0217 | 8 | c.*12 others(19): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197549975 | T | TTATTTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01256.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(1): Show | a0001c0001t0002g0050 a0001c0001t0004g0053 a0001c0001t0020g0052 others(1): Show |
4 | 181 | 0.0221 | 8 | c.-43 others(25): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27659629 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18979.hp2 NA19085.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0001a0002c0002t0002 | a0001c0001t0018g0267 a0002c0002t0001g0207 a0002c0002t0002g0196 |
3 | 71 | 0.0423 | 8 | c.-21 others(25): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27697158 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01123.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0125 others(3): Show |
11 | 298 | 0.0369 | 8 | c.-22 others(25): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDNF_chr11_27649893_27705455 | 27698226 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00673.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0002g0044 a0001c0001t0003g0202 a0002c0002t0001g0207 others(27): Show |
42 | 46 | 0.9130 | 8 | c.-22 others(25): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71506786 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01978.hp2 |
a0004a0005a0009 | a0004c0004a0005c0005a0009c0008 | a0004c0004t0004a0005c0005t0015a0009c0008t0002 | a0004c0004t0004g0311 a0005c0005t0015g0309 a0009c0008t0002g0008 |
3 | 172 | 0.0174 | 8 | c.237 others(27): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71506823 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(11): Show |
a0001a0032 | a0001c0001a0001c0030a0032c0027 | a0001c0001t0002a0001c0001t0019a0001c0030t0002others(1): Show | a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0068 others(11): Show |
14 | 130 | 0.1077 | 8 | c.237 others(27): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66461569 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0237 a0001c0001t0001g0238 others(3): Show |
6 | 29 | 0.2069 | 8 | c.26- others(23): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66470170 | C | CGATGGAT others(1): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02809.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0030 a0001c0001t0001g0107 a0001c0001t0001g0178 others(4): Show |
7 | 149 | 0.0470 | 8 | c.289 others(23): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474557 | A | AGAGGGAG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 HG03669.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0129 others(3): Show |
6 | 291 | 0.0206 | 8 | c.290 others(25): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474602 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 NA18906.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0001c0001t0004a0006c0004t0003 | a0001c0001t0001g0027 a0001c0001t0001g0217 a0001c0001t0004g0041 others(1): Show |
4 | 266 | 0.0150 | 8 | c.290 others(25): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02486.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(6): Show |
9 | 40 | 0.2250 | 8 | c.290 others(25): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100583692 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02280.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0103 others(23): Show |
34 | 138 | 0.2464 | 8 | c.42+ others(23): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
BEGAIN_chr14_100532147_100592417 | 100585415 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01884.hp2 HG01891.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0027 others(16): Show |
20 | 190 | 0.1053 | 8 | c.42+ others(23): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18190766 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01358.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0006 a0002c0002t0001g0132 a0002c0002t0001g0175 others(5): Show |
9 | 155 | 0.0581 | 8 | c.128 others(25): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18190766 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(58): Show |
a0002a0007 | a0002c0002a0002c0003a0007c0012 | a0002c0002t0001a0002c0002t0010a0002c0002t0013others(3): Show | a0002c0002t0001g0140 a0002c0002t0001g0150 a0002c0002t0001g0151 others(58): Show |
61 | 207 | 0.2947 | 8 | c.128 others(25): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18194972 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02293.hp1 HG02559.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0002c0002t0001g0150 others(1): Show |
4 | 152 | 0.0263 | 8 | c.118 others(25): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107103959 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01346.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0034others(2): Show | a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 others(6): Show |
9 | 182 | 0.0495 | 8 | c.-11 others(25): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42132440 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0014 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(3): Show | a0001c0001t0002g0110 a0001c0001t0005g0019 a0001c0001t0005g0021 others(11): Show |
18 | 104 | 0.1731 | 8 | c.105 others(27): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762614 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 a0001c0002t0002g0139 a0001c0002t0002g0189 |
3 | 310 | 0.0097 | 8 | c.227 others(25): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762656 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG01358.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0079 a0001c0001t0001g0143 a0001c0001t0001g0158 others(3): Show |
6 | 103 | 0.0583 | 8 | c.227 others(25): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48769526 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0001g0101 others(19): Show |
23 | 123 | 0.1870 | 8 | c.226 others(25): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48778135 | A | ACATCCAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01175.hp2 HG02559.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 others(12): Show |
16 | 165 | 0.0970 | 8 | c.-13 others(19): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1245 | chr1 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13503712 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(71): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(62): Show |
74 | 291 | 0.2543 | 8 | c.146 others(25): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
BEST1_chr11_61945351_61969461 | 61951197 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02723.hp2 others(7): Show |
a0001a0006 | a0001c0008a0006c0018 | a0001c0008t0001a0006c0018t0002 | a0001c0008t0001g0010 a0001c0008t0001g0070 a0006c0018t0002g0071 |
10 | 378 | 0.0265 | 8 | c.-36 others(23): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61953886 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02273.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0015 a0001c0004t0001g0060 a0001c0004t0001g0109 |
8 | 145 | 0.0552 | 8 | c.153 others(25): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61957972 | T | TCAAACAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(58): Show |
173 | 243 | 0.7119 | 8 | c.715 others(23): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61958903 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02896.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 |
3 | 371 | 0.0081 | 8 | c.868 others(23): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(40): Show |
57 | 187 | 0.3048 | 8 | c.482 others(25): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686786 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01884.hp1 others(33): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0198 a0001c0001t0001g0199 others(31): Show |
36 | 322 | 0.1118 | 8 | c.481 others(25): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700981 | T | TTCCCTCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0024 others(16): Show |
22 | 224 | 0.0982 | 8 | c.-17 others(19): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1679 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700985 | T | TTCCCTCC others(1): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02132.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0142 others(3): Show |
6 | 131 | 0.0458 | 8 | c.-17 others(19): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1683 | chr12 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44782629 | C | CAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 NA18953.hp2 NA18981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0014 a0001c0001t0006g0017 others(1): Show |
6 | 108 | 0.0556 | 8 | c.*15 others(19): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 955 | chr1 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44792972 | T | TAAACAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00735.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 |
37 | 249 | 0.1486 | 8 | c.-52 others(19): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 4803 | chr1 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 NA19030.hp2 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 |
4 | 93 | 0.0430 | 8 | c.-20 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTGTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01496.hp2 HG01978.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(1): Show |
21 | 110 | 0.1909 | 8 | c.-20 others(19): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX2_chrX_103304346_103315990 | 103314607 | T | TACAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0005t0001g0012 |
11 | 306 | 0.0359 | 8 | c.-38 others(19): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 3618 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02129.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008 others(2): Show |
10 | 32 | 0.3125 | 8 | c.*32 others(17): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102157003 | G | GAAGAAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(257): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(15): Show |
260 | 322 | 0.8075 | 8 | c.-12 others(19): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 1027 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17497457 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
a0001a0006 | a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0004t0002a0001c0005t0004a0001c0006t0002others(1): Show | a0001c0004t0002g0126 a0001c0004t0002g0192 a0001c0004t0002g0193 others(26): Show |
33 | 125 | 0.2640 | 8 | c.957 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17497459 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(41): Show |
a0001a0007a0010 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0001g0010 a0001c0003t0001g0084 a0001c0003t0001g0274 others(39): Show |
44 | 91 | 0.4835 | 8 | c.957 others(23): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 6/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529064 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02615.hp1 HG02895.hp2 others(14): Show |
a0001a0002 | a0001c0003a0001c0008a0001c0012others(3): Show | a0001c0003t0001a0001c0003t0003a0001c0008t0001others(4): Show | a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0003g0048 others(13): Show |
17 | 168 | 0.1012 | 8 | c.377 others(25): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133409227 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01255.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(10): Show |
15 | 33 | 0.4545 | 8 | c.489 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |