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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSL5_chr10_112369116_112433376 | 112379414 | G | GAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0035a0001c0001t0001g0036others(28): Show | 33 | 364 | 0.0907 | 2 | c.-30 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112383812 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0063others(148): Show | 153 | 364 | 0.4203 | 2 | c.-30 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112386181 | C | CTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0002g0015others(3): Show | 6 | 364 | 0.0165 | 2 | c.-29 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112387936 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0068others(99): Show | 104 | 364 | 0.2857 | 2 | c.-29 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112391368 | C | CAA | intron_variant | MODIFIER | HG01981.hp1 HG04228.hp1 NA18965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0217a0001c0001t0001g0290a0001c0001t0002g0127others(3): Show | 6 | 364 | 0.0165 | 2 | c.-29 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112396686 | T | TCA | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0022a0001c0001t0002g0005a0001c0001t0002g0306others(2): Show | 6 | 364 | 0.0165 | 2 | c.156 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112400406 | C | CTT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(55): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0063a0001c0001t0001g0067a0001c0001t0001g0069others(55): Show | 58 | 364 | 0.1593 | 2 | c.265 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112401947 | T | TTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
a0001a0004a0006 | a0001c0001a0001c0005a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(139): Show | 145 | 364 | 0.3984 | 2 | c.266 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112411627 | T | TAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(107): Show |
a0001 | a0001c0001a0001c0005a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(103): Show | 110 | 364 | 0.3022 | 2 | c.870 others(17): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112416470 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00642.hp2 others(35): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0206a0001c0001t0002g0008others(35): Show | 38 | 364 | 0.1044 | 2 | c.108 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112419102 | C | CTG | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0029a0001c0001t0001g0030others(2): Show | 5 | 364 | 0.0137 | 2 | c.131 others(21): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112423217 | A | AAT | intron_variant | MODIFIER | HG01934.hp2 HG02027.hp1 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117a0001c0001t0002g0124a0001c0001t0002g0130others(5): Show | 8 | 364 | 0.0220 | 2 | c.159 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112425595 | T | TAA | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00639.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0106a0001c0001t0002g0115a0001c0001t0002g0117others(48): Show | 51 | 364 | 0.1401 | 2 | c.173 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112429966 | T | TGG | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00738.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0066a0001c0001t0001g0072a0001c0001t0001g0075others(23): Show | 26 | 364 | 0.0714 | 2 | c.*26 others(13): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1591 | chr10 | TogoVar | ||||||
ACSL6_chr5_131944973_132016658 | 131986981 | T | TCA | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp1 HG02486.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0261a0001c0001t0002g0168a0001c0001t0002g0169others(14): Show | 17 | 326 | 0.0522 | 2 | c.832 others(17): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 7/20 | chr5 | TogoVar | ||||||
ACSL6_chr5_131944973_132016658 | 131988557 | C | CTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(110): Show | 138 | 326 | 0.4233 | 2 | c.652 others(17): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 6/20 | chr5 | TogoVar | ||||||
ACSL6_chr5_131944973_132016658 | 132009355 | A | ATC | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0032a0001c0004t0001 | a0001c0001t0004g0036a0001c0001t0032g0035a0001c0004t0001g0037 | 3 | 326 | 0.0092 | 2 | c.49+ others(17): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20622192 | G | GGT | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG03486.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0001 | a0001c0002t0001g0073a0001c0002t0001g0168a0001c0002t0001g0169others(5): Show | 8 | 318 | 0.0252 | 2 | c.*12 others(13): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1042 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20622196 | G | GGT | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052a0001c0002t0001g0072a0001c0002t0001g0096others(7): Show | 10 | 318 | 0.0315 | 2 | c.*12 others(13): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1038 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627871 | T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG02257.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038a0001c0001t0002g0075a0001c0001t0002g0077others(4): Show | 7 | 318 | 0.0220 | 2 | c.130 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627875 | T | TAC | intron_variant | MODIFIER | HG02257.hp1 HG04199.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028a0001c0001t0002g0167a0001c0001t0002g0302others(1): Show | 4 | 318 | 0.0126 | 2 | c.130 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20629990 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(113): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0014a0005c0010others(2): Show | a0001c0001t0002a0001c0001t0007a0004c0014t0002others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0018others(111): Show | 116 | 318 | 0.3648 | 2 | c.130 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20644538 | A | AAC | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0020a0001c0002t0001g0021others(7): Show | 10 | 318 | 0.0315 | 2 | c.993 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20656897 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0018a0001c0001t0002g0025a0001c0001t0002g0035others(31): Show | 34 | 318 | 0.1069 | 2 | c.992 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20657608 | G | GTT | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01109.hp2 others(34): Show |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0002a0009c0015t0002 | a0001c0001t0002g0062a0001c0001t0002g0063a0001c0001t0002g0064others(34): Show | 37 | 318 | 0.1164 | 2 | c.992 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20669441 | A | AAC | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01123.hp2 others(33): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0002g0063a0001c0001t0002g0074a0001c0001t0002g0089others(33): Show | 36 | 318 | 0.1132 | 2 | c.912 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20671440 | G | GAC | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(73): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0002g0018a0001c0001t0002g0025a0001c0001t0002g0035others(73): Show | 76 | 318 | 0.2390 | 2 | c.752 others(15): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20684853 | T | TTG | intron_variant | MODIFIER | HG03704.hp2 HG03927.hp1 NA18990.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0003 | a0001c0002t0001g0057a0001c0002t0001g0059a0001c0008t0003g0097others(1): Show | 4 | 318 | 0.0126 | 2 | c.403 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20685819 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00741.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0002g0041a0001c0001t0002g0053a0001c0001t0002g0077others(22): Show | 25 | 318 | 0.0786 | 2 | c.193 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20691751 | A | ATG | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01069.hp1 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0002g0100a0001c0001t0002g0199a0001c0001t0002g0200others(44): Show | 48 | 318 | 0.1509 | 2 | c.-51 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20697556 | T | TAC | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 HG01496.hp1 others(22): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0001others(5): Show | a0001c0001t0002g0261a0001c0001t0002g0262a0001c0001t0002g0263others(22): Show | 25 | 318 | 0.0786 | 2 | c.-52 others(15): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20458905 | C | CAT | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG00741.hp2 others(34): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0018a0003c0015others(3): Show | a0001c0001t0001a0001c0018t0001a0003c0015t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(22): Show | 37 | 436 | 0.0849 | 2 | c.-8- others(17): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2A_chr16_20446521_20492669 | 20458932 | A | ATG | intron_variant | MODIFIER | HG01934.hp1 HG02723.hp1 HG03098.hp2 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0101a0007c0007t0001g0102a0007c0007t0001g0103 | 3 | 436 | 0.0069 | 2 | c.-8- others(17): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00735.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0022others(4): Show | a0001c0001t0004a0001c0001t0010a0002c0002t0003others(11): Show | a0001c0001t0004g0126a0001c0001t0010g0044a0001c0001t0010g0045others(41): Show | 50 | 436 | 0.1147 | 2 | c.162 others(19): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAG | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01258.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0026a0002c0002t0002others(10): Show | a0001c0001t0001g0066a0001c0001t0001g0128a0001c0001t0026g0061others(44): Show | 49 | 436 | 0.1124 | 2 | c.*18 others(13): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20490035 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(61): Show |
a0003a0004a0006others(5): Show | a0003c0003a0004c0004a0004c0014others(7): Show | a0003c0003t0005a0004c0004t0002a0004c0014t0001others(7): Show | a0003c0003t0005g0030a0003c0003t0005g0031a0003c0003t0005g0175others(54): Show | 64 | 436 | 0.1468 | 2 | c.*33 others(13): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2367 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTG | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(30): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(8): Show | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0134others(26): Show | 33 | 388 | 0.0851 | 2 | c.*17 others(13): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20540233 | T | TTG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(60): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0017others(5): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0021others(9): Show | a0001c0002t0002g0111a0001c0002t0004g0003a0001c0002t0004g0027others(52): Show | 63 | 388 | 0.1624 | 2 | c.162 others(19): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTA | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00642.hp2 others(27): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0006a0001c0012others(5): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(9): Show | a0001c0002t0002g0288a0001c0002t0002g0291a0001c0002t0004g0264others(26): Show | 30 | 388 | 0.0773 | 2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566682 | G | GTA | intron_variant | MODIFIER | HG02055.hp2 HG02074.hp2 HG02486.hp1 others(12): Show |
a0002a0003a0006 | a0002c0003a0002c0009a0002c0019others(2): Show | a0002c0003t0010a0002c0003t0013a0002c0009t0009others(4): Show | a0002c0003t0010g0053a0002c0003t0013g0049a0002c0009t0009g0010others(11): Show | 15 | 388 | 0.0387 | 2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566717 | A | ACT | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG03209.hp1 others(1): Show |
a0002a0006 | a0002c0003a0006c0020 | a0002c0003t0005a0002c0003t0010a0006c0020t0003others(1): Show | a0002c0003t0005g0084a0002c0003t0010g0083a0006c0020t0003g0105others(1): Show | 4 | 388 | 0.0103 | 2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566718 | G | GTA | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02145.hp2 others(13): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0007others(2): Show | a0001c0002t0003a0002c0003t0005a0003c0007t0007others(6): Show | a0001c0002t0003g0262a0002c0003t0005g0081a0003c0007t0007g0322others(12): Show | 16 | 388 | 0.0412 | 2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566733 | A | ATT | intron_variant | MODIFIER | HG02486.hp2 HG03098.hp1 HG03471.hp1 |
a0003a0016 | a0003c0007a0016c0028 | a0003c0007t0003a0016c0028t0003 | a0003c0007t0003g0119a0003c0007t0003g0120a0016c0028t0003g0118 | 3 | 388 | 0.0077 | 2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566734 | G | GTA | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp1 HG01257.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0002c0003others(10): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0011others(15): Show | a0001c0002t0002g0111a0001c0002t0003g0012a0001c0002t0003g0112others(66): Show | 73 | 388 | 0.1881 | 2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20767516 | C | CAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0041others(18): Show | 34 | 356 | 0.0955 | 2 | c.-51 others(19): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM3_chr16_20759014_20802581 | 20771371 | C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG01358.hp2 HG01884.hp2 others(13): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0013 | a0001c0001t0001a0003c0003t0001a0010c0013t0001 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0084others(8): Show | 16 | 356 | 0.0449 | 2 | c.219 others(19): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM3_chr16_20759014_20802581 | 20774239 | C | CTT | intron_variant | MODIFIER | HG02080.hp1 HG03704.hp2 HG03927.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0100a0002c0002t0001g0016a0003c0003t0001g0064others(2): Show | 7 | 356 | 0.0197 | 2 | c.220 others(19): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM4_chr12_7299072_7333719 | 7306847 | C | CAA | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01074.hp1 others(63): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0020others(15): Show | 66 | 430 | 0.1535 | 2 | c.412 others(17): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20406525 | C | CTT | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01516.hp1 HG02135.hp1 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0001c0001t0001g0026a0002c0002t0002g0065a0002c0002t0002g0066others(5): Show | 9 | 434 | 0.0207 | 2 | c.-31 others(13): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3008 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20413881 | T | TAA | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01257.hp1 others(10): Show |
a0005a0031 | a0005c0005a0031c0025 | a0005c0005t0003a0005c0005t0009a0005c0005t0012others(1): Show | a0005c0005t0003g0254a0005c0005t0009g0040a0005c0005t0009g0335others(8): Show | 13 | 434 | 0.0300 | 2 | c.204 others(19): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |