| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BCAS3_chr17_60672851_61397831 | 60770400 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG01952.hp1 others(20): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0004t0002a0002c0003t0001others(8): Show | a0001c0002t0001g0042a0001c0004t0002g0035a0001c0004t0002g0050others(20): Show | 23 | 74 | 0.3108 | -22 | c.403 others(41): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61045988 | TTTATATA others(15): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0039 | 1 | 74 | 0.0135 | -22 | c.202 others(41): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61322808 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0012 | 1 | 74 | 0.0135 | -22 | c.242 others(43): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCAS4_chr20_50790061_50882177 | 50806728 | AGTAGGTA others(15): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004a0001c0003t0001g0005 | 2 | 270 | 0.0074 | -22 | c.91- others(39): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
| BCAT1_chr12_24805024_24954101 | 24836906 | GAGAGAAA others(15): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0043 | a0001c0001t0002g0106a0001c0001t0002g0259a0001c0001t0002g0270others(4): Show | 7 | 322 | 0.0217 | -22 | c.818 others(37): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99199677 | TGTGTGTG others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0015 | a0001c0001t0008g0084a0001c0001t0014g0182a0001c0001t0014g0260others(2): Show | 5 | 350 | 0.0143 | -22 | c.641 others(41): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL11B_chr14_99164287_99277197 | 99199683 | TGCGCGCG others(15): Show |
T | intron_variant | MODIFIER | NA18983.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0181a0001c0002t0004g0117 | 2 | 350 | 0.0057 | -22 | c.641 others(41): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
| BCL2L10_chr15_52104263_52117775 | 52116918 | CTTTTTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0009 | a0002c0002t0005g0113a0002c0002t0009g0116 | 2 | 458 | 0.0044 | -22 | c.-42 others(33): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4144 | chr15 | TogoVar | ||||||
| BCL2L13_chr22_17633757_17735855 | 17715122 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03516.hp1 NA18952.hp2 |
a0001a0004a0007 | a0001c0001a0004c0006a0007c0013 | a0001c0001t0010a0004c0006t0001a0007c0013t0003 | a0001c0001t0010g0225a0004c0006t0001g0092a0007c0013t0003g0028 | 3 | 306 | 0.0098 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715150 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA18979.hp2 NA19077.hp1 NA19079.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0020 | a0001c0001t0003g0051a0001c0001t0013g0164a0001c0001t0013g0236others(1): Show | 4 | 306 | 0.0131 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715152 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02647.hp2 NA19089.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0003g0026a0001c0001t0008g0234a0001c0001t0010g0146others(1): Show | 4 | 306 | 0.0131 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715154 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02145.hp2 NA18974.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0027 | a0001c0001t0003g0048a0001c0001t0003g0050a0001c0002t0027g0076 | 3 | 306 | 0.0098 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715158 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG02717.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0068a0001c0002t0014g0065 | 2 | 306 | 0.0065 | -22 | c.601 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L1_chr20_31659458_31727868 | 31663113 | TATACACA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 186 | 0.0054 | -22 | c.*28 others(33): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 1344 | chr20 | TogoVar | ||||||
| BCL2L1_chr20_31659458_31727868 | 31691152 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02015.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0087 | 2 | 186 | 0.0108 | -22 | c.565 others(41): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63169403 | TTTTCTTT others(15): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 264 | 0.0038 | -22 | c.586 others(41): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL3_chr19_44743708_44765044 | 44752275 | ACTGCAGC others(15): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0138 | 1 | 344 | 0.0029 | -22 | c.410 others(37): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| BCL3_chr19_44743708_44765044 | 44759003 | GGCCCCTC others(15): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02129.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0026a0001c0001t0002g0045a0001c0001t0005g0155 | 4 | 344 | 0.0116 | -22 | c.117 others(39): Show |
BCL3 | ENSG00000069399.15 | transcript | ENST00000164227.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0023 | a0001c0001t0001g0262a0001c0001t0001g0263a0001c0002t0023g0278 | 3 | 362 | 0.0083 | -22 | c.175 others(39): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BCL9_chr1_147536501_147631216 | 147627902 | ATGCAAGA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0195a0001c0001t0014g0229 | 2 | 316 | 0.0063 | -22 | c.*29 others(33): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1687 | chr1 | TogoVar | ||||||
| BCO1_chr16_81233689_81296142 | 81280269 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0001g0041others(6): Show | 10 | 402 | 0.0249 | -22 | c.110 others(39): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BCO1_chr16_81233689_81296142 | 81284261 | TATATTTA others(15): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02922.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0013 | a0001c0001t0001a0001c0002t0001a0008c0013t0001 | a0001c0001t0001g0273a0001c0002t0001g0169a0001c0002t0001g0170others(1): Show | 4 | 402 | 0.0100 | -22 | c.120 others(41): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BCOR_chrX_40046251_40102958 | 40046528 | ATATAAAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0035a0001c0002t0001g0203 | 2 | 257 | 0.0078 | -22 | c.*55 others(33): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4722 | chrX | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40046554 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02717.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0121a0001c0001t0001g0129a0001c0002t0001g0149 | 3 | 257 | 0.0117 | -22 | c.*55 others(33): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4696 | chrX | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40080815 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03579.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128 | 3 | 257 | 0.0117 | -22 | c.-40 others(39): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| BEAN1_chr16_66422295_66487833 | 66445475 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 298 | 0.0034 | -22 | c.25+ others(37): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 444 | 0.0023 | -22 | c.-72 others(31): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | ||||||
| BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(15): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02615.hp1 HG03225.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0011 | a0001c0001t0003a0001c0001t0017a0001c0001t0022others(2): Show | a0001c0001t0003g0172a0001c0001t0003g0203a0001c0001t0003g0243others(4): Show | 7 | 368 | 0.0190 | -22 | c.241 others(39): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG03486.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0004 | a0001c0002t0001g0050a0001c0003t0004g0056 | 2 | 368 | 0.0054 | -22 | c.241 others(39): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| BEST1_chr11_61945351_61969461 | 61958902 | ACACATAC others(15): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0201 | 1 | 410 | 0.0024 | -22 | c.868 others(37): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BET1L_chr11_197924_212399 | 200766 | GGCCCGGC others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0025a0001c0001t0007g0006 | 4 | 402 | 0.0100 | -22 | c.*45 others(33): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 2157 | chr11 | TogoVar | ||||||
| BEX1_chrX_103057651_103069171 | 103060010 | CTCTCTCT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 2 | 339 | 0.0059 | -22 | c.*28 others(33): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2640 | chrX | TogoVar | ||||||
| BEX1_chrX_103057651_103069171 | 103060012 | CTCTCTAT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 339 | 0.0030 | -22 | c.*28 others(33): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2638 | chrX | TogoVar | ||||||
| BEX2_chrX_103304346_103315990 | 103309250 | GTGTATAT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02897.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 308 | 0.0162 | -22 | c.*31 others(31): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 95 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102153606 | CATATATA others(15): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 324 | 0.0031 | -22 | c.*30 others(31): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | ||||||
| BFSP1_chr20_17488905_17536379 | 17501518 | TGCACCCC others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(115): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(12): Show | a0001c0002t0001g0007a0001c0002t0001g0041a0001c0002t0001g0058others(109): Show | 118 | 396 | 0.2980 | -22 | c.736 others(39): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
| BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02015.hp2 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0032a0001c0002t0001g0054others(10): Show | 13 | 276 | 0.0471 | -22 | c.490 others(37): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BHLHA9_chr17_1265444_1276815 | 1275720 | GGTGTGTG others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 442 | 0.0068 | -22 | c.*44 others(33): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 3906 | chr17 | TogoVar | ||||||
| BHMT_chr5_79106809_79137288 | 79137250 | CATATACG others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 NA19064.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0213a0002c0003t0001g0039 | 2 | 432 | 0.0046 | -22 | c.*61 others(33): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4963 | chr5 | TogoVar | ||||||
| BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02922.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0004a0002c0002t0010a0003c0004t0044 | a0002c0002t0004g0093a0002c0002t0010g0123a0003c0004t0044g0112 | 3 | 132 | 0.0227 | -22 | c.307 others(41): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32116470 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0188a0001c0001t0001g0193a0001c0001t0001g0194others(31): Show | 34 | 290 | 0.1172 | -22 | c.213 others(39): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32116490 | CTTTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0174a0001c0001t0001g0202a0001c0001t0001g0208others(34): Show | 37 | 290 | 0.1276 | -22 | c.213 others(39): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32282199 | CTTCTTTT others(15): Show |
C | intron_variant | MODIFIER | NA19064.hp2 NA19083.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0075a0001c0002t0003g0238 | 2 | 290 | 0.0069 | -22 | c.427 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32346635 | CGTGTATA others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01106.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0028a0001c0002t0002others(2): Show | a0001c0001t0008g0125a0001c0001t0008g0129a0001c0001t0008g0140others(9): Show | 12 | 290 | 0.0414 | -22 | c.276 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32348723 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0209 | 1 | 290 | 0.0035 | -22 | c.276 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG03453.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0022 | a0001c0001t0007g0037a0001c0002t0022g0240 | 2 | 270 | 0.0074 | -22 | c.184 others(41): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BICRA_chr19_47604134_47708277 | 47612629 | GGGAGAGG others(15): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0299 | 1 | 312 | 0.0032 | -22 | c.-10 others(41): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BID_chr22_17729138_17779469 | 17762725 | AATTTCTC others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0030a0001c0001t0001g0137 | 3 | 362 | 0.0083 | -22 | c.-59 others(41): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
| BIN1_chr2_127043032_127112154 | 127043997 | TCACATTC others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01361.hp1 HG01934.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0108a0001c0001t0001g0109others(8): Show | 12 | 344 | 0.0349 | -22 | c.*45 others(33): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 4034 | chr2 | TogoVar | ||||||
| BIN2_chr12_51276038_51329174 | 51295577 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03927.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0005 | a0001c0001t0001g0015a0005c0008t0005g0252 | 3 | 400 | 0.0075 | -22 | c.761 others(37): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar |