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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL2L11_chr2_111115914_111173444 | 111120979 | TGCCGCCG others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG03098.hp1 HG03516.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0028others(1): Show | a0001c0001t0001g0150 a0001c0001t0014g0080 a0001c0001t0028g0286 others(1): Show |
4 | 48 | 0.0833 | -9 | c.-18 others(18): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 1/4 | 2725 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17683844 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(141): Show |
a0001 | a0001c0001a0001c0009a0001c0014 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(36): Show | a0001c0001t0002g0004 a0001c0001t0002g0103 a0001c0001t0002g0114 others(140): Show |
144 | 206 | 0.6990 | -9 | c.229 others(24): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31683769 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG03139.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076 a0001c0001t0002g0089 a0001c0001t0002g0090 others(2): Show |
5 | 10 | 0.5000 | -9 | c.565 others(28): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31691152 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(57): Show |
64 | 74 | 0.8649 | -9 | c.565 others(28): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31709840 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00741.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(60): Show |
67 | 130 | 0.5154 | -9 | c.564 others(28): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63155534 | GGGTGGGC others(2): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0001g0162 a0001c0001t0005g0169 a0001c0001t0012g0163 others(5): Show |
8 | 262 | 0.0305 | -9 | c.586 others(28): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169333 | CTTCCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0052 | a0001c0001t0001g0168 a0001c0001t0002g0027 a0001c0001t0052g0230 |
3 | 259 | 0.0116 | -9 | c.586 others(28): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63324505 | CAAAAATA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0023g0258 others(1): Show |
4 | 262 | 0.0153 | -9 | c.-56 others(20): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 4737 | chr18 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63324508 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0015 | a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0003g0213 others(4): Show |
7 | 57 | 0.1228 | -9 | c.-56 others(20): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 4740 | chr18 | TogoVar | |||||||
BCL3_chr19_44743708_44765044 | 44744435 | ATATTATT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(54): Show |
76 | 180 | 0.4222 | -9 | c.-43 others(20): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 4272 | chr19 | TogoVar | |||||||
BCL7B_chr7_73531356_73562690 | 73540827 | CTCAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 |
3 | 282 | 0.0106 | -9 | c.266 others(24): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
BCL7B_chr7_73531356_73562690 | 73540829 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(5): Show |
11 | 19 | 0.5789 | -9 | c.266 others(24): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
BCL7B_chr7_73531356_73562690 | 73561529 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0047 |
3 | 50 | 0.0600 | -9 | c.-39 others(20): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3840 | chr7 | TogoVar | |||||||
BCL7C_chr16_30882795_30899077 | 30892270 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(15): Show |
75 | 94 | 0.7979 | -9 | c.442 others(24): Show |
BCL7C | ENSG00000099385.12 | transcript | ENST00000215115.5 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
BCLAF3_chrX_19907860_19996061 | 19990922 | CCCGCCGC others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02630.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0182 others(12): Show |
15 | 46 | 0.3261 | -9 | c.-58 others(16): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20659 | chrX | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81280269 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00609.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0181 others(51): Show |
54 | 63 | 0.8571 | -9 | c.110 others(26): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23274907 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp2 others(36): Show |
a0001 | a0001c0002a0001c0005a0001c0013others(2): Show | a0001c0002t0008a0001c0002t0015a0001c0002t0029others(28): Show | a0001c0002t0008g0113 a0001c0002t0008g0143 a0001c0002t0015g0137 others(35): Show |
39 | 211 | 0.1848 | -9 | c.211 others(28): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23297205 | TTGTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0032a0001c0038 | a0001c0001t0122a0001c0032t0162a0001c0038t0110 | a0001c0001t0122g0124 a0001c0032t0162g0199 a0001c0038t0110g0133 |
3 | 294 | 0.0102 | -9 | c.301 others(28): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23298528 | TCCTTCCT others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01081.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0033a0001c0001t0099a0001c0001t0102others(39): Show | a0001c0001t0033g0235 a0001c0001t0033g0237 a0001c0001t0099g0165 others(41): Show |
44 | 294 | 0.1497 | -9 | c.301 others(28): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96204870 | GGGTGGGG others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(311): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(269): Show |
314 | 434 | 0.7235 | -9 | c.-11 others(18): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/3 | 32211 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDP1_chr5_71450651_71572820 | 71500316 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(93): Show |
a0002a0010a0012others(12): Show | a0002c0002a0002c0039a0002c0041others(14): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(17): Show | a0002c0002t0001g0133 a0002c0002t0001g0137 a0002c0002t0001g0138 others(92): Show |
96 | 153 | 0.6275 | -9 | c.195 others(28): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66433100 | TTTATTTT others(2): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18963.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0092 a0001c0001t0002g0279 a0001c0001t0002g0280 others(1): Show |
4 | 296 | 0.0135 | -9 | c.-82 others(26): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18185533 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0057 others(86): Show |
94 | 124 | 0.7581 | -9 | c.128 others(28): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18217922 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(78): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0202 others(77): Show |
81 | 277 | 0.2924 | -9 | c.26- others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 1/13 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107114666 | TCCGGCCG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0002 a0001c0001t0002g0240 a0001c0001t0002g0241 others(90): Show |
95 | 366 | 0.2596 | -9 | c.-12 others(24): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48779704 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(164): Show |
187 | 242 | 0.7727 | -9 | c.-28 others(20): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 2814 | chr1 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69687472 | AGAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(75): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0198 others(69): Show |
78 | 364 | 0.2143 | -9 | c.481 others(26): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158102 | TTTCTTCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
7 | 308 | 0.0227 | -9 | c.-23 others(20): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2126 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158150 | CTTCTTAT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | 287 | 0.0105 | -9 | c.-24 others(20): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2174 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102158153 | CTTATTAT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01361.hp1 HG01943.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
18 | 200 | 0.0900 | -9 | c.-24 others(20): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2177 | chrX | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133431077 | TGGTTCGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(155): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(152): Show |
158 | 274 | 0.5766 | -9 | c.490 others(28): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHA15_chr7_98206439_98220457 | 98211564 | TGGGGTTG others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0017others(4): Show | a0001c0001t0003g0003 a0001c0001t0007g0003 a0001c0001t0017g0003 others(4): Show |
84 | 454 | 0.1850 | -9 | c.-55 others(22): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58538301 | GAACCAAG others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 others(55): Show |
58 | 130 | 0.4462 | -9 | c.190 others(28): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58638862 | TTTTCTCT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp2 others(83): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0081 others(83): Show |
86 | 130 | 0.6615 | -9 | c.237 others(28): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58710430 | CAGATTAC others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0039a0001c0001t0041a0002c0003t0025 | a0001c0001t0039g0126 a0001c0001t0041g0130 a0002c0003t0025g0037 |
3 | 130 | 0.0231 | -9 | c.307 others(26): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58783607 | TTGTGAAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(101): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0081 others(101): Show |
104 | 130 | 0.8000 | -9 | c.308 others(26): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32359119 | ACTCTCTG others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG01243.hp2 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0003 | a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0217 others(6): Show |
9 | 288 | 0.0313 | -9 | c.276 others(28): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42793122 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
6 | 32 | 0.1875 | -9 | c.-10 others(30): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02165.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0164 others(3): Show |
6 | 12 | 0.5000 | -9 | c.184 others(28): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47658631 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01070.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0006a0001c0008t0006others(4): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0104 others(25): Show |
28 | 175 | 0.1600 | -9 | c.-10 others(30): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47659729 | CACACGTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01070.hp1 others(25): Show |
a0001a0008a0014 | a0001c0001a0001c0006a0001c0015others(2): Show | a0001c0001t0001a0001c0006t0002a0001c0006t0005others(3): Show | a0001c0001t0001g0087 a0001c0001t0001g0142 a0001c0001t0001g0157 others(25): Show |
28 | 310 | 0.0903 | -9 | c.-10 others(30): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
BID_chr22_17729138_17779469 | 17772653 | CCATCCTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(9): Show |
12 | 360 | 0.0333 | -9 | c.-59 others(26): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIK_chr22_43105750_43134712 | 43130417 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01070.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(27): Show |
66 | 71 | 0.9296 | -9 | c.*11 others(20): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 706 | chr22 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32431181 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0108 a0001c0001t0001g0199 a0001c0001t0001g0205 others(5): Show |
8 | 39 | 0.2051 | -9 | c.324 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32508276 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0248 a0001c0001t0001g0249 others(4): Show |
7 | 28 | 0.2500 | -9 | c.998 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11528813 | AGGTGGAA others(2): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03098.hp2 HG03139.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0004a0001c0004t0013a0003c0008t0012 | a0001c0001t0004g0087 a0001c0004t0013g0076 a0001c0004t0013g0077 others(3): Show |
6 | 306 | 0.0196 | -9 | c.-1- others(26): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90789987 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp1 HG01934.hp2 others(9): Show |
a0001a0002a0004 | a0001c0002a0001c0017a0002c0004others(1): Show | a0001c0002t0001a0001c0017t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0011 a0001c0002t0001g0085 a0001c0002t0001g0087 others(9): Show |
12 | 59 | 0.2034 | -9 | c.282 others(26): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90805257 | CTATGTAT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(87): Show |
a0001a0002a0010 | a0001c0001a0001c0009a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0036 others(87): Show |
90 | 278 | 0.3237 | -9 | c.375 others(26): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100087158 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG03195.hp1 others(2): Show |
a0009a0011a0019 | a0009c0011a0011c0021a0011c0027others(1): Show | a0009c0011t0001a0011c0021t0001a0011c0027t0001others(1): Show | a0009c0011t0001g0004 a0009c0011t0001g0005 a0011c0021t0001g0054 others(2): Show |
5 | 105 | 0.0476 | -9 | c.102 others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 8/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100106588 | TGAAGACT others(2): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA19240.hp1 |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0021 a0002c0010t0001g0022 |
2 | 186 | 0.0108 | -9 | c.207 others(26): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar |