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 | 61206801 | CAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02451.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0060others(18): Show | 21 | 74 | 0.2838 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61213512 | CTTA | C | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 NA21309.hp2 |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0001 | a0001c0002t0002a0002c0005t0001a0003c0001t0001 | a0001c0002t0002g0070a0002c0005t0001g0014a0003c0001t0001g0007 | 3 | 74 | 0.0405 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61232069 | ATGG | A | intron_variant | MODIFIER | HG01099.hp1 HG02486.hp1 HG02615.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0056a0001c0002t0001g0060a0001c0002t0002g0053others(10): Show | 13 | 74 | 0.1757 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61234783 | GAAA | G | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG01952.hp1 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(6): Show | a0001c0002t0001g0059a0001c0004t0001g0043a0002c0003t0001g0040others(13): Show | 16 | 74 | 0.2162 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61267617 | ATCC | A | intron_variant | MODIFIER | HG01952.hp2 HG03098.hp2 HG03209.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0002t0002g0057a0001c0004t0001g0058a0001c0004t0002g0035others(3): Show | 6 | 74 | 0.0811 | -3 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61270112 | ATTT | A | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02809.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(2): Show | a0001c0002t0002a0002c0003t0003a0002c0005t0001others(3): Show | a0001c0002t0002g0054a0001c0002t0002g0069a0002c0003t0003g0013others(6): Show | 9 | 74 | 0.1216 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61272636 | CAAA | C | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0002t0001g0071a0001c0002t0002g0070a0001c0004t0001g0045others(1): Show | 4 | 74 | 0.0541 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61338887 | GGAA | G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02486.hp1 |
a0001a0002 | a0001c0002a0002c0003a0002c0007 | a0001c0002t0001a0002c0003t0002a0002c0007t0001 | a0001c0002t0001g0059a0002c0003t0002g0039a0002c0007t0001g0004 | 3 | 74 | 0.0405 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61350634 | CTTT | C | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG02451.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(7): Show | a0001c0002t0001g0056a0001c0002t0001g0063a0001c0002t0002g0064others(13): Show | 16 | 74 | 0.2162 | -3 | c.242 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61373805 | TTTG | T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0060a0001c0002t0001g0067others(5): Show | 8 | 74 | 0.1081 | -3 | c.259 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61386796 | GTTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(3): Show | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0002g0053others(5): Show | 8 | 74 | 0.1081 | -3 | c.259 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796478 | TATA | T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00741.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0249a0001c0001t0001g0251a0001c0001t0001g0252others(11): Show | 14 | 270 | 0.0519 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796480 | TATA | T | intron_variant | MODIFIER | HG01496.hp1 HG01943.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0003 | a0001c0001t0002g0232a0002c0002t0001g0055a0002c0002t0001g0056others(2): Show | 5 | 270 | 0.0185 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796482 | TATA | T | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0005g0206a0001c0001t0005g0207a0001c0003t0001g0208others(2): Show | 5 | 270 | 0.0185 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50800559 | CTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0003g0065others(2): Show | 5 | 270 | 0.0185 | -3 | c.90+ others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50806862 | CTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(5): Show | a0001c0001t0002g0017a0001c0001t0002g0270a0001c0004t0001g0011others(9): Show | 12 | 270 | 0.0444 | -3 | c.91- others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50816791 | ATTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp1 others(61): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0173a0001c0001t0001g0175a0001c0001t0001g0198others(61): Show | 64 | 270 | 0.2370 | -3 | c.91- others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50846607 | CTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01433.hp2 HG01981.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0089a0001c0001t0001g0168a0001c0001t0003g0219others(8): Show | 11 | 270 | 0.0407 | -3 | c.399 others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50872578 | GAAC | G | intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0179a0001c0001t0004g0040a0001c0001t0004g0098others(8): Show | 11 | 270 | 0.0407 | -3 | c.400 others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50875602 | TAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01106.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0004t0003others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0065a0001c0001t0003g0073others(35): Show | 38 | 270 | 0.1407 | -3 | c.400 others(18): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24808435 | ATTT | A | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01257.hp2 HG01496.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(18): Show | a0001c0001t0002g0207a0001c0001t0003g0242a0001c0001t0014g0200others(29): Show | 32 | 322 | 0.0994 | -3 | c.*95 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1588 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24808759 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(113): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(113): Show | 116 | 322 | 0.3603 | -3 | c.*92 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1264 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24814802 | GTTT | G | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020a0001c0001t0068others(3): Show | a0001c0001t0011g0029a0001c0001t0011g0030a0001c0001t0011g0039others(9): Show | 12 | 322 | 0.0373 | -3 | c.*32 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 11/11 | 3203 | chr12 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24825463 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(248): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(248): Show | 251 | 322 | 0.7795 | -3 | c.111 others(22): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24831918 | AGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01069.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(9): Show | a0001c0001t0002g0233a0001c0001t0011g0029a0001c0001t0011g0030others(14): Show | 17 | 322 | 0.0528 | -3 | c.104 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24835556 | TTTA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0042others(1): Show | a0001c0001t0006g0187a0001c0001t0015g0026a0001c0001t0015g0028others(2): Show | 5 | 322 | 0.0155 | -3 | c.903 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24878466 | AAAC | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0071 | a0001c0001t0020g0087a0001c0001t0020g0293a0001c0001t0020g0294others(1): Show | 4 | 322 | 0.0124 | -3 | c.510 others(16): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887081 | ATAT | A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0058 | a0001c0001t0030g0085a0001c0001t0030g0295a0001c0001t0058g0289 | 3 | 322 | 0.0093 | -3 | c.280 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24899835 | TAAA | T | intron_variant | MODIFIER | HG01169.hp1 HG01517.hp1 HG01884.hp1 others(19): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(12): Show | a0001c0001t0001g0291a0001c0001t0002g0106a0001c0001t0002g0259others(19): Show | 22 | 322 | 0.0683 | -3 | c.78+ others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24928704 | TTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0060others(80): Show | 83 | 322 | 0.2578 | -3 | c.6+2 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24930896 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00621.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0037a0001c0001t0001g0060a0001c0001t0001g0165others(73): Show | 76 | 322 | 0.2360 | -3 | c.6+1 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24933109 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0121a0001c0001t0001g0167a0001c0001t0001g0188others(26): Show | 29 | 322 | 0.0901 | -3 | c.6+1 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24952296 | TAAA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(87): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0218a0001c0001t0001g0235a0001c0001t0001g0236others(87): Show | 90 | 322 | 0.2795 | -3 | c.-33 others(14): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3196 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48802441 | CTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01081.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0077a0001c0001t0001g0086a0001c0001t0001g0091others(5): Show | 20 | 408 | 0.0490 | -3 | c.301 others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 3/10 | chr19 | TogoVar | ||||||
BCDIN3D_chr12_49831043_49848106 | 49846485 | CTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0002g0002a0001c0001t0004g0004a0001c0001t0009g0009others(9): Show | 45 | 420 | 0.1071 | -3 | c.-34 others(14): Show |
BCDIN3D | ENSG00000186666.6 | transcript | ENST00000333924.6 | protein_coding | 3380 | chr12 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165773741 | ATAT | A | intron_variant | MODIFIER | HG01433.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0224a0001c0001t0006g0225a0001c0001t0006g0226others(2): Show | 5 | 304 | 0.0165 | -3 | c.168 others(20): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165777354 | AAAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp2 others(56): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0008others(4): Show | a0002c0002t0002g0004a0002c0002t0002g0015a0002c0002t0002g0017others(45): Show | 59 | 304 | 0.1941 | -3 | c.168 others(22): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165840333 | TAGA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00642.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(40): Show | 53 | 304 | 0.1743 | -3 | c.-30 others(14): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2911 | chr3 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41396617 | CTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02280.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0169a0001c0001t0001g0246a0001c0001t0001g0253others(9): Show | 13 | 374 | 0.0348 | -3 | c.-12 others(14): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1200 | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41397727 | TTTC | T | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18947.hp2 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117a0001c0001t0003g0150a0001c0001t0003g0151others(2): Show | 5 | 374 | 0.0134 | -3 | c.-10 others(11): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 90 | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41407950 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0125others(47): Show | 60 | 374 | 0.1604 | -3 | c.109 others(20): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41408541 | TCTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001a0001c0006t0002 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0110others(8): Show | 13 | 374 | 0.0348 | -3 | c.109 others(20): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41409798 | ATTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0001a0001c0004t0002a0001c0014t0001 | a0001c0004t0001g0008a0001c0004t0001g0106a0001c0004t0002g0105others(1): Show | 8 | 374 | 0.0214 | -3 | c.109 others(18): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41418091 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(157): Show | 209 | 374 | 0.5588 | -3 | c.485 others(20): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHA_chr19_41392818_41430002 | 41427885 | TGAG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(158): Show | 205 | 374 | 0.5481 | -3 | c.*32 others(14): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2884 | chr19 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80108559 | TAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(86): Show | 89 | 294 | 0.3027 | -3 | c.196 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80124464 | CGTT | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0023 | a0001c0001t0003g0108a0001c0001t0003g0110a0001c0001t0003g0111others(3): Show | 6 | 294 | 0.0204 | -3 | c.197 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80177225 | CAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01515.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0159a0001c0001t0001g0163a0001c0001t0001g0164others(13): Show | 16 | 294 | 0.0544 | -3 | c.742 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80199771 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(81): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(81): Show | 84 | 294 | 0.2857 | -3 | c.743 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80210135 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(91): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(91): Show | 94 | 294 | 0.3197 | -3 | c.951 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |