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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACBD7_chr10_15070475_15093776 | 15082283 | CAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0030others(4): Show | a0001c0001t0003g0101a0001c0001t0007g0085a0001c0001t0030g0086others(4): Show | 7 | 426 | 0.0164 | -3 | c.13- others(18): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
ACBD7_chr10_15070475_15093776 | 15089731 | GTGT | G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01099.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0055 | a0001c0001t0003g0005a0001c0001t0003g0032a0001c0001t0003g0080others(4): Show | 17 | 426 | 0.0399 | -3 | c.-10 others(14): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 956 | chr10 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44057703 | TAAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0006a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0006t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(25): Show | 87 | 446 | 0.1951 | -3 | c.132 others(20): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACCSL_chr11_44042981_44064977 | 44061467 | TTTG | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01884.hp1 others(30): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0029a0001c0001t0001g0031others(18): Show | 33 | 446 | 0.0740 | -3 | c.*15 others(14): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 1491 | chr11 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44062366 | TTTC | T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp2 others(27): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0029a0001c0001t0001g0031others(16): Show | 30 | 446 | 0.0673 | -3 | c.*24 others(14): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 2390 | chr11 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44064602 | ATGT | A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0061a0001c0001t0001g0063 | 7 | 446 | 0.0157 | -3 | c.*46 others(14): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4626 | chr11 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44064607 | ATTT | A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02809.hp2 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(3): Show | 7 | 446 | 0.0157 | -3 | c.*46 others(14): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4631 | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44061467 | TTTG | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01884.hp1 others(24): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0003c0002t0001others(3): Show | a0001c0001t0001g0073a0001c0001t0001g0107a0001c0001t0004g0036others(20): Show | 27 | 438 | 0.0616 | -3 | c.-52 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 4802 | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44062366 | TTTC | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(23): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0003c0002t0001others(3): Show | a0001c0001t0001g0107a0001c0001t0004g0036a0001c0001t0004g0108others(19): Show | 26 | 438 | 0.0594 | -3 | c.-43 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 3903 | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44064602 | ATGT | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02896.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007a0002c0003t0001g0024a0002c0003t0001g0026others(1): Show | 6 | 438 | 0.0137 | -3 | c.-20 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1667 | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44064607 | ATTT | A | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02818.hp2 NA18944.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0002a0002c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0120a0001c0001t0001g0122others(5): Show | 8 | 438 | 0.0183 | -3 | c.-20 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1662 | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44065496 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0004t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0019others(30): Show | 39 | 438 | 0.0890 | -3 | c.-12 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 773 | chr11 | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15562718 | GTGT | G | intron_variant | MODIFIER | NA19076.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0086 | 1 | 264 | 0.0038 | -3 | c.231 others(20): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 17/17 | chrX | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15582489 | TGTG | T | intron_variant | MODIFIER | HG02280.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0158 | 2 | 264 | 0.0076 | -3 | c.901 others(20): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 7/17 | chrX | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15584634 | GTCT | G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 264 | 0.0038 | -3 | c.900 others(18): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 7/17 | chrX | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15603577 | ATTT | A | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 264 | 0.0038 | -3 | c.-26 others(14): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 2618 | chrX | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6308435 | CAAA | C | intron_variant | MODIFIER | HG02273.hp1 HG02735.hp1 HG03491.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0078a0001c0001t0001g0231a0001c0001t0001g0232others(4): Show | 7 | 396 | 0.0177 | -3 | c.489 others(20): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6311598 | GAGA | G | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0062a0001c0001t0001g0072a0001c0001t0001g0108others(32): Show | 37 | 396 | 0.0934 | -3 | c.350 others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6311631 | GAGA | G | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0027a0001c0001t0001g0191others(4): Show | 7 | 396 | 0.0177 | -3 | c.350 others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6328496 | CAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02004.hp2 others(25): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0141others(25): Show | 28 | 396 | 0.0707 | -3 | c.93+ others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6331966 | ATTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02004.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0340a0001c0001t0001g0341a0001c0001t0001g0342others(9): Show | 12 | 396 | 0.0303 | -3 | c.93+ others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6335146 | TATA | T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01884.hp2 HG02004.hp2 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0338a0001c0001t0001g0340a0001c0001t0001g0341others(10): Show | 13 | 396 | 0.0328 | -3 | c.-15 others(14): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1535 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6337658 | TTTC | T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02976.hp1 HG06807.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0303a0001c0001t0001g0323a0001c0004t0001g0379others(4): Show | 7 | 396 | 0.0177 | -3 | c.-41 others(14): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 4047 | chr19 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19424513 | ATCT | A | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0003t0010a0003c0004t0004 | a0001c0001t0002g0314a0001c0003t0010g0311a0001c0003t0010g0312others(3): Show | 6 | 358 | 0.0168 | -3 | c.224 others(18): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19428776 | GTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0089a0001c0001t0002g0127a0001c0001t0006g0083others(10): Show | 13 | 358 | 0.0363 | -3 | c.365 others(20): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19433914 | ACCT | A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0014a0001c0003t0005 | a0001c0001t0002g0127a0001c0001t0014g0335a0001c0003t0005g0128others(1): Show | 4 | 358 | 0.0112 | -3 | c.366 others(20): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19449890 | TAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(59): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0025others(56): Show | 62 | 358 | 0.1732 | -3 | c.642 others(18): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19456950 | TCAA | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0123a0003c0004t0004g0124a0003c0004t0004g0125others(4): Show | 7 | 358 | 0.0196 | -3 | c.*63 others(14): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 4446 | chr9 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76862285 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00741.hp1 others(14): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0014a0001c0001t0017a0001c0001t0029others(6): Show | a0001c0001t0014g0199a0001c0001t0014g0205a0001c0001t0014g0206others(14): Show | 17 | 346 | 0.0491 | -3 | c.103 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76882003 | CTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG03041.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0022a0001c0001t0037a0001c0001t0074others(5): Show | a0001c0001t0022g0088a0001c0001t0037g0099a0001c0001t0037g0128others(6): Show | 9 | 346 | 0.0260 | -3 | c.103 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76896426 | AGGC | A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG01884.hp2 others(38): Show |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0016a0001c0003t0026others(25): Show | a0001c0003t0011g0101a0001c0003t0011g0103a0001c0003t0011g0104others(38): Show | 41 | 346 | 0.1185 | -3 | c.104 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76898903 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00642.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(30): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0003g0023others(57): Show | 60 | 346 | 0.1734 | -3 | c.104 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76916619 | TAAA | T | intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0074a0001c0001t0088 | a0001c0001t0037g0099a0001c0001t0037g0128a0001c0001t0074g0129others(1): Show | 4 | 346 | 0.0116 | -3 | c.104 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76933240 | CTTT | C | intron_variant | MODIFIER | HG01192.hp2 NA18612.hp2 NA18747.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0161a0001c0001t0002g0173a0001c0001t0002g0175others(4): Show | 7 | 346 | 0.0202 | -3 | c.214 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76942763 | GTTC | G | intron_variant | MODIFIER | HG01192.hp2 NA18612.hp2 NA18747.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0161a0001c0001t0002g0173a0001c0001t0002g0175others(4): Show | 7 | 346 | 0.0202 | -3 | c.214 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76943749 | ACCC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(192): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(80): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(192): Show | 195 | 346 | 0.5636 | -3 | c.215 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76943913 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(83): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(30): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(83): Show | 86 | 346 | 0.2486 | -3 | c.215 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76950408 | TATA | T | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01109.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0144others(31): Show | 34 | 346 | 0.0983 | -3 | c.215 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76963477 | GACA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(170): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(170): Show | 173 | 346 | 0.5000 | -3 | c.267 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76996398 | CATT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(19): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0011a0001c0003t0016a0001c0003t0138others(6): Show | a0001c0003t0011g0101a0001c0003t0011g0103a0001c0003t0011g0104others(19): Show | 22 | 346 | 0.0636 | -3 | c.439 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77005036 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(206): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(85): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(206): Show | 209 | 346 | 0.6041 | -3 | c.497 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77005991 | ATTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02735.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0021a0002c0002t0045others(4): Show | a0002c0002t0001g0002a0002c0002t0021g0006a0002c0002t0021g0008others(9): Show | 12 | 346 | 0.0347 | -3 | c.497 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77010163 | AAAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0055a0002c0002t0020a0002c0002t0025others(10): Show | a0001c0001t0055g0141a0002c0002t0020g0214a0002c0002t0020g0215others(25): Show | 28 | 346 | 0.0809 | -3 | c.498 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77017940 | CTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0037a0001c0003t0026others(6): Show | a0001c0001t0002g0168a0001c0001t0037g0128a0001c0003t0026g0114others(10): Show | 13 | 346 | 0.0376 | -3 | c.704 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACHE_chr7_100884994_100900888 | 100891518 | CCTT | C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 3 | 414 | 0.0073 | -3 | c.155 others(20): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
ACHE_chr7_100884994_100900888 | 100897302 | AAGC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(127): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(13): Show | 130 | 414 | 0.3140 | -3 | c.-15 others(14): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 1415 | chr7 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23076847 | CGAT | C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02647.hp1 others(12): Show |
a0005a0017 | a0005c0005a0017c0029 | a0005c0005t0002a0005c0005t0007a0017c0029t0001 | a0005c0005t0002g0018a0005c0005t0002g0199a0005c0005t0002g0200others(11): Show | 15 | 350 | 0.0429 | -3 | c.212 others(22): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23077450 | GCTT | G | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG03041.hp1 others(2): Show |
a0009a0010 | a0009c0015a0010c0017 | a0009c0015t0001a0010c0017t0001 | a0009c0015t0001g0301a0009c0015t0001g0302a0009c0015t0001g0303others(2): Show | 5 | 350 | 0.0143 | -3 | c.212 others(20): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23080669 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(59): Show |
a0003a0006a0007others(5): Show | a0003c0004a0003c0021a0006c0009others(8): Show | a0003c0004t0001a0003c0021t0005a0006c0009t0001others(9): Show | a0003c0004t0001g0002a0003c0004t0001g0006a0003c0004t0001g0010others(51): Show | 62 | 350 | 0.1771 | -3 | c.663 others(10): Show |
p.Glu others(6): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 6/19 | 689/4460 | 663/3852 | 221/1283 | chr14 | TogoVar | ||
ACIN1_chr14_23053564_23100136 | 23097168 | AAAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(126): Show |
a0001a0002a0011others(3): Show | a0001c0001a0001c0007a0001c0012others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(111): Show | 129 | 350 | 0.3686 | -3 | c.-20 others(14): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 2033 | chr14 | TogoVar |