view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSL5_chr10_112369116_112433376 | 112386181 | CTT | C | intron_variant | MODIFIER | HG02818.hp2 HG03195.hp1 NA18906.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0003 | a0001c0001t0002g0036 a0001c0001t0002g0049 a0001c0001t0002g0338 others(6): Show |
9 | 50 | 0.1800 | -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 | 112390102 | AAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(141): Show |
153 | 362 | 0.4227 | -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 | 112397169 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0004a0007 | a0001c0001a0001c0005a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(141): Show |
153 | 353 | 0.4334 | -2 | c.157 others(19): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112412591 | TTC | T | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 others(1): Show |
4 | 362 | 0.0110 | -2 | c.949 others(17): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112414352 | CTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 others(3): Show |
7 | 148 | 0.0473 | -2 | c.108 others(21): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112419102 | CTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp2 others(167): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0022 a0001c0001t0001g0145 a0001c0001t0001g0154 others(161): Show |
170 | 234 | 0.7265 | -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 | 112419130 | GTA | G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0041 others(24): Show |
29 | 362 | 0.0801 | -2 | c.131 others(21): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 14/20 | chr10 | TogoVar | |||||||
ACSL6_chr5_131944973_132016658 | 131951875 | CCG | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(119): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0011others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(97): Show |
122 | 324 | 0.3765 | -2 | c.*23 others(13): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 21/21 | 2357 | chr5 | TogoVar | ||||||
ACSL6_chr5_131944973_132016658 | 131989583 | CTT | C | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp1 HG02015.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0159 others(12): Show |
15 | 73 | 0.2055 | -2 | c.451 others(15): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 4/20 | chr5 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20622090 | CTG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(167): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0005others(8): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(11): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(163): Show |
170 | 315 | 0.5397 | -2 | c.*13 others(13): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1144 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20622194 | TGG | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00621.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0003t0001a0002c0004t0001 | a0001c0001t0002g0073 a0001c0003t0001g0104 a0001c0003t0001g0127 others(15): Show |
18 | 315 | 0.0571 | -2 | c.*12 others(13): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1040 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20622196 | GGT | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00741.hp1 others(26): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(22): Show |
29 | 277 | 0.1047 | -2 | c.*12 others(13): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1038 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20627824 | ATC | A | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00741.hp1 others(38): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(34): Show |
41 | 125 | 0.3280 | -2 | c.130 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG02015.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0003t0001a0001c0007t0001 | a0001c0001t0002g0017 a0001c0001t0002g0073 a0001c0001t0002g0163 others(15): Show |
18 | 83 | 0.2169 | -2 | c.130 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20644538 | AAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00738.hp1 others(26): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0002t0001g0023 a0001c0002t0001g0065 a0001c0002t0001g0072 others(26): Show |
29 | 111 | 0.2613 | -2 | c.993 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20656897 | CAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 others(3): Show |
6 | 185 | 0.0324 | -2 | c.992 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20669441 | AAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp1 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0002g0163 a0001c0001t0002g0200 a0001c0001t0002g0217 others(69): Show |
72 | 165 | 0.4364 | -2 | c.912 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20671440 | GAC | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(106): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(104): Show |
109 | 199 | 0.5477 | -2 | c.752 others(15): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672471 | AAT | A | intron_variant | MODIFIER | HG01975.hp2 HG02056.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0093 others(7): Show |
10 | 179 | 0.0559 | -2 | c.612 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672697 | GTA | G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(46): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0001others(3): Show | a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0034 others(46): Show |
49 | 316 | 0.1551 | -2 | c.612 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672810 | TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01099.hp1 others(69): Show |
a0001a0009a0010 | a0001c0001a0009c0011a0010c0015 | a0001c0001t0002a0009c0011t0002a0010c0015t0002 | a0001c0001t0002g0004 a0001c0001t0002g0061 a0001c0001t0002g0062 others(68): Show |
72 | 316 | 0.2278 | -2 | c.612 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20672917 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(46): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0001others(3): Show | a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0034 others(46): Show |
49 | 316 | 0.1551 | -2 | c.612 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20691751 | ATG | A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01123.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0002g0294 a0001c0001t0007g0233 a0001c0002t0001g0209 others(12): Show |
15 | 59 | 0.2542 | -2 | c.-51 others(17): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20697556 | TAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01943.hp2 others(22): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 others(22): Show |
25 | 49 | 0.5102 | -2 | c.-52 others(15): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20700599 | TAA | T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp2 NA20905.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0044 others(1): Show |
4 | 316 | 0.0127 | -2 | c.-30 others(13): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2920 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20458694 | CTA | C | intron_variant | MODIFIER | NA18956.hp1 NA18968.hp1 NA18974.hp2 others(4): Show |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0256 a0006c0006t0002g0348 a0006c0006t0002g0349 others(4): Show |
7 | 434 | 0.0161 | -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 | 20458905 | CAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(19): Show |
a0001a0005a0008 | a0001c0001a0001c0017a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0025 others(17): Show |
22 | 365 | 0.0603 | -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 | 20469870 | GTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00673.hp2 others(155): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0022a0003c0003others(9): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(28): Show | a0002c0002t0002g0185 a0002c0002t0002g0190 a0002c0002t0002g0209 others(132): Show |
158 | 377 | 0.4191 | -2 | c.596 others(17): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20469872 | ATT | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01993.hp1 others(12): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0015a0007c0007others(1): Show | a0001c0001t0001a0001c0001t0010a0003c0015t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(11): Show |
15 | 355 | 0.0423 | -2 | c.596 others(17): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20482134 | CAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01258.hp1 HG01891.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0026a0002c0002t0002others(10): Show | a0001c0001t0001g0081 a0001c0001t0026g0062 a0002c0002t0002g0190 others(41): Show |
49 | 373 | 0.1314 | -2 | c.151 others(19): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | CAA | C | intron_variant | MODIFIER | HG01978.hp1 HG02129.hp2 HG02148.hp2 others(17): Show |
a0003a0004a0012others(3): Show | a0003c0003a0004c0004a0004c0014others(4): Show | a0003c0003t0002a0004c0004t0002a0004c0004t0013others(5): Show | a0003c0003t0002g0340 a0004c0004t0002g0255 a0004c0004t0002g0266 others(17): Show |
20 | 47 | 0.4255 | -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 | 20488438 | TAC | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(131): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0003others(17): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0026others(29): Show | a0001c0001t0001g0081 a0001c0001t0001g0113 a0001c0001t0006g0091 others(120): Show |
134 | 431 | 0.3109 | -2 | c.*17 others(13): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 770 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20488460 | CAT | C | downstream_gene_variant | MODIFIER | HG01258.hp1 HG02015.hp2 HG02071.hp1 others(3): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0006 | a0002c0002t0009a0003c0003t0002a0003c0003t0009others(1): Show | a0002c0002t0009g0245 a0003c0003t0002g0298 a0003c0003t0009g0297 others(3): Show |
6 | 433 | 0.0139 | -2 | c.*17 others(13): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 792 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20533599 | CTT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00733.hp1 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0023others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(66): Show |
83 | 149 | 0.5570 | -2 | c.*36 others(13): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2626 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | CTG | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp2 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 others(34): Show |
45 | 115 | 0.3913 | -2 | c.*17 others(13): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20541679 | TTC | T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00673.hp1 others(97): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0012others(11): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(22): Show | a0001c0002t0002g0029 a0001c0002t0003g0013 a0001c0002t0003g0036 others(86): Show |
100 | 385 | 0.2597 | -2 | c.151 others(19): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20542345 | AAC | A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02717.hp2 others(2): Show |
a0003 | a0003c0007a0003c0033 | a0003c0007t0014a0003c0033t0003 | a0003c0007t0014g0331 a0003c0007t0014g0332 a0003c0007t0014g0333 others(2): Show |
5 | 386 | 0.0130 | -2 | c.150 others(19): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20551768 | AAC | A | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001a0003a0014 | a0001c0002a0003c0007a0014c0028 | a0001c0002t0003a0003c0007t0003a0014c0028t0003 | a0001c0002t0003g0013 a0003c0007t0003g0014 a0014c0028t0003g0123 |
5 | 386 | 0.0130 | -2 | c.894 others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | TTA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00741.hp2 others(25): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0006a0003c0007others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(7): Show | a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 others(23): Show |
28 | 61 | 0.4590 | -2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566674 | TAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0004t0002a0002c0003t0010others(2): Show | a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0004t0002g0129 others(5): Show |
10 | 386 | 0.0259 | -2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566697 | AGT | A | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp2 others(28): Show |
a0001a0006a0013others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0213 a0001c0001t0003g0127 a0001c0001t0003g0142 others(26): Show |
31 | 386 | 0.0803 | -2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566698 | GTA | G | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01884.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0002c0003others(3): Show | a0001c0002t0004a0001c0002t0022a0001c0006t0001others(6): Show | a0001c0002t0004g0298 a0001c0002t0022g0302 a0001c0006t0001g0299 others(12): Show |
15 | 252 | 0.0595 | -2 | c.-8- others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20572974 | ATT | A | intron_variant | MODIFIER | HG00597.hp2 HG01891.hp1 HG02486.hp2 others(8): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0004a0003c0007others(5): Show | a0001c0002t0003a0001c0004t0002a0003c0007t0003others(5): Show | a0001c0002t0003g0013 a0001c0004t0002g0149 a0003c0007t0003g0014 others(5): Show |
11 | 157 | 0.0701 | -2 | c.-9+ others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20580576 | CAG | C | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001a0003a0014 | a0001c0002a0003c0007a0014c0028 | a0001c0002t0003a0003c0007t0003a0014c0028t0003 | a0001c0002t0003g0013 a0003c0007t0003g0014 a0014c0028t0003g0123 |
5 | 386 | 0.0130 | -2 | c.-43 others(13): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 4210 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20759559 | CAA | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0001 | a0001c0004t0001g0055 a0001c0004t0001g0064 a0003c0003t0001g0011 others(4): Show |
12 | 248 | 0.0484 | -2 | c.-46 others(13): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4454 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20779771 | CTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(55): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 others(31): Show |
58 | 284 | 0.2042 | -2 | c.639 others(17): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20800807 | AAC | A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 a0003c0003t0001g0023 a0003c0003t0001g0024 others(5): Show |
13 | 354 | 0.0367 | -2 | c.*38 others(13): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 3227 | chr16 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7303378 | CAA | C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0104 a0001c0001t0002g0111 a0001c0005t0001g0012 others(2): Show |
11 | 295 | 0.0373 | -2 | c.-95 others(11): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 693 | chr12 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7306847 | CAA | C | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG01952.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0006t0005a0002c0003t0004 | a0001c0001t0001g0089 a0001c0006t0005g0035 a0002c0003t0004g0008 others(4): Show |
20 | 137 | 0.1460 | -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 | 20421615 | CTA | C | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG04204.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0137 a0002c0002t0002g0136 a0002c0002t0004g0005 others(2): Show |
5 | 33 | 0.1515 | -2 | c.767 others(17): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |