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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM1_chr16_20618235_20702680 | 20686810 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(128): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0026 others(126): Show |
131 | 318 | 0.4120 | -1 | c.193 others(9): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20686978 | AT | A | intron_variant | MODIFIER | HG01069.hp2 HG01952.hp2 HG01975.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0209 others(10): Show |
13 | 318 | 0.0409 | -1 | c.193 others(9): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20693169 | CA | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0035 others(47): Show |
51 | 318 | 0.1604 | -1 | c.-51 others(9): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20698189 | CA | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0035 others(42): Show |
46 | 318 | 0.1447 | -1 | c.-60 others(5): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 510 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20449449 | AG | A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03130.hp2 NA19043.hp2 others(1): Show |
a0010 | a0010c0011 | a0010c0011t0005a0010c0011t0007 | a0010c0011t0005g0274 a0010c0011t0005g0275 a0010c0011t0005g0276 others(1): Show |
4 | 436 | 0.0092 | -1 | c.-22 others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2071 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20451741 | CT | C | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp1 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0013 a0008c0008t0001g0038 |
3 | 436 | 0.0069 | -1 | c.-9+ others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20454900 | GA | G | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02818.hp2 others(5): Show |
a0003a0009 | a0003c0026a0009c0009 | a0003c0026t0007a0009c0009t0001a0009c0009t0006 | a0003c0026t0007g0170 a0009c0009t0001g0167 a0009c0009t0006g0023 others(4): Show |
8 | 436 | 0.0184 | -1 | c.-9+ others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20455100 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(240): Show |
a0002a0003a0004others(12): Show | a0002c0002a0002c0022a0003c0003others(15): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(34): Show | a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0219 others(212): Show |
243 | 436 | 0.5573 | -1 | c.-9+ others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20456911 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(51): Show |
66 | 436 | 0.1514 | -1 | c.-8- others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20465678 | GC | G | frameshift_variant | HIGH | NA18987.hp2 | a0018 | a0018c0029 | a0018c0029t0002 | a0018c0029t0002g0337 | 1 | 436 | 0.0023 | -1 | c.343 others(4): Show |
p.Arg others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20466244 | AG | A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0069 |
4 | 436 | 0.0092 | -1 | c.388 others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20469205 | AT | A | intron_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01071.hp2 others(58): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0023others(4): Show | a0001c0001t0001a0003c0003t0002a0003c0003t0003others(10): Show | a0001c0001t0001g0115 a0003c0003t0002g0034 a0003c0003t0002g0037 others(54): Show |
61 | 436 | 0.1399 | -1 | c.389 others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20469871 | TA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp1 others(30): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0003a0003c0026others(7): Show | a0002c0002t0003a0002c0002t0008a0002c0002t0015others(14): Show | a0002c0002t0003g0010 a0002c0002t0003g0177 a0002c0002t0003g0205 others(30): Show |
33 | 436 | 0.0757 | -1 | c.596 others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20469872 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(48): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0018a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0024a0001c0001t0025others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(43): Show |
51 | 436 | 0.1170 | -1 | c.596 others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20471367 | CT | C | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp2 NA19043.hp2 others(1): Show |
a0010 | a0010c0011 | a0010c0011t0005a0010c0011t0007 | a0010c0011t0005g0274 a0010c0011t0005g0275 a0010c0011t0005g0276 others(1): Show |
4 | 436 | 0.0092 | -1 | c.740 others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20472706 | TG | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp2 others(6): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0005a0004c0004t0013 | a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0005g0285 others(4): Show |
9 | 436 | 0.0206 | -1 | c.894 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20480578 | TC | T | frameshift_variant | HIGH | NA19062.hp2 | a0020 | a0020c0028 | a0020c0028t0002 | a0020c0028t0002g0293 | 1 | 436 | 0.0023 | -1 | c.129 others(5): Show |
p.Asp others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 11/14 | 1459/2894 | 1290/1734 | 430/577 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20482134 | CA | C | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp1 HG01981.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0022others(5): Show | a0001c0001t0001a0002c0002t0003a0002c0022t0003others(6): Show | a0001c0001t0001g0057 a0001c0001t0001g0119 a0002c0002t0003g0257 others(18): Show |
23 | 436 | 0.0528 | -1 | c.151 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483136 | CA | C | frameshift_variant | HIGH | HG03225.hp1 | a0014 | a0014c0027 | a0014c0027t0020 | a0014c0027t0020g0280 | 1 | 436 | 0.0023 | -1 | c.158 others(5): Show |
p.His others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/14 | 1758/2894 | 1589/1734 | 530/577 | chr16 | TogoVar | |||
ACSM2A_chr16_20446521_20492669 | 20483391 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0017a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0024a0001c0001t0025others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(138): Show |
162 | 436 | 0.3716 | -1 | c.162 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG02056.hp2 HG02080.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(6): Show | a0001c0001t0001g0128 a0001c0001t0004g0111 a0002c0002t0002g0204 others(17): Show |
21 | 436 | 0.0482 | -1 | c.162 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20484723 | GT | G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(12): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0003a0003c0010others(3): Show | a0001c0001t0006a0003c0003t0007a0003c0003t0012others(5): Show | a0001c0001t0006g0090 a0003c0003t0007g0271 a0003c0003t0012g0171 others(11): Show |
15 | 436 | 0.0344 | -1 | c.162 others(10): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20486597 | CA | C | frameshift_variant | HIGH | HG03225.hp1 | a0014 | a0014c0027 | a0014c0027t0020 | a0014c0027t0020g0280 | 1 | 436 | 0.0023 | -1 | c.165 others(5): Show |
p.Lys others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 14/14 | 1824/2894 | 1655/1734 | 552/577 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20533599 | CT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(226): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(203): Show |
229 | 388 | 0.5902 | -1 | c.*36 others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2626 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20537949 | TA | T | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0024 a0001c0012t0007g0223 a0001c0012t0007g0284 |
4 | 388 | 0.0103 | -1 | c.163 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20539301 | AG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(184): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0012others(12): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(25): Show | a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0111 others(166): Show |
187 | 388 | 0.4820 | -1 | c.162 others(10): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20540224 | GT | G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0018others(15): Show | a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0015 others(48): Show |
58 | 388 | 0.1495 | -1 | c.162 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20541676 | TC | T | intron_variant | MODIFIER | HG02630.hp2 HG03209.hp1 HG03540.hp2 others(3): Show |
a0003a0005a0006others(1): Show | a0003c0008a0003c0025a0005c0011others(2): Show | a0003c0008t0003a0003c0025t0003a0005c0011t0026others(3): Show | a0003c0008t0003g0122 a0003c0025t0003g0121 a0005c0011t0026g0327 others(3): Show |
6 | 388 | 0.0155 | -1 | c.151 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20541680 | TC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(119): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0006others(14): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0021others(21): Show | a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0111 others(107): Show |
122 | 388 | 0.3144 | -1 | c.151 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20541681 | CT | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(38): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0006a0002c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(8): Show | a0001c0001t0001g0163 a0001c0001t0003g0006 a0001c0001t0003g0014 others(32): Show |
41 | 388 | 0.1057 | -1 | c.151 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20545612 | AG | A | intron_variant | MODIFIER | HG02602.hp2 HG02698.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0134 a0001c0004t0002g0137 a0001c0004t0002g0141 |
3 | 388 | 0.0077 | -1 | c.118 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20549824 | TA | T | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001a0003a0014 | a0001c0002a0003c0007a0014c0028 | a0001c0002t0003a0003c0007t0003a0014c0028t0003 | a0001c0002t0003g0012 a0003c0007t0003g0119 a0003c0007t0003g0120 others(1): Show |
5 | 388 | 0.0129 | -1 | c.895 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20556088 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(251): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(220): Show |
254 | 388 | 0.6546 | -1 | c.389 others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20557216 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(141): Show |
a0001a0003a0007others(5): Show | a0001c0001a0001c0004a0003c0033others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(117): Show |
144 | 388 | 0.3711 | -1 | c.389 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20557405 | TC | T | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01256.hp1 others(69): Show |
a0002a0004 | a0002c0003a0002c0009a0002c0018others(3): Show | a0002c0003t0005a0002c0003t0010a0002c0003t0013others(6): Show | a0002c0003t0005g0009 a0002c0003t0005g0041 a0002c0003t0005g0042 others(65): Show |
72 | 388 | 0.1856 | -1 | c.388 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20559721 | AT | A | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01256.hp1 others(87): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0006a0002c0003others(9): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0011others(15): Show | a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0006t0011g0110 others(82): Show |
90 | 388 | 0.2320 | -1 | c.178 others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20560114 | GA | G | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02257.hp2 others(10): Show |
a0003 | a0003c0007a0003c0008 | a0003c0007t0007a0003c0007t0014a0003c0008t0001others(2): Show | a0003c0007t0007g0322 a0003c0007t0014g0340 a0003c0007t0014g0341 others(9): Show |
13 | 388 | 0.0335 | -1 | c.178 others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20561684 | CT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00597.hp2 others(38): Show |
a0001a0006a0015others(1): Show | a0001c0001a0001c0004a0006c0020others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 others(34): Show |
41 | 388 | 0.1057 | -1 | c.178 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20563592 | TA | T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(13): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0006a0006c0010others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0011others(4): Show | a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0006t0011g0110 others(12): Show |
16 | 388 | 0.0412 | -1 | c.177 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20564738 | GC | G | frameshift_variant | HIGH | NA18972.hp1 | a0016 | a0016c0034 | a0016c0034t0003 | a0016c0034t0003g0142 | 1 | 388 | 0.0026 | -1 | c.107 others(4): Show |
p.Gly others(4): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/14 | 276/2935 | 107/1734 | 36/577 | chr16 | TogoVar | |||
ACSM2B_chr16_20531226_20581367 | 20566644 | AC | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0006a0006c0010others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0011others(5): Show | a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0006t0011g0110 others(13): Show |
17 | 388 | 0.0438 | -1 | c.-8- others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566658 | AT | A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00597.hp2 others(109): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(33): Show | a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 others(99): Show |
112 | 388 | 0.2887 | -1 | c.-8- others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566681 | AG | A | intron_variant | MODIFIER | HG01934.hp2 HG02258.hp1 HG02572.hp2 others(9): Show |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0040 a0004c0005t0006g0093 a0004c0005t0006g0094 others(9): Show |
12 | 388 | 0.0309 | -1 | c.-8- others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20570962 | TC | T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02258.hp2 others(8): Show |
a0003 | a0003c0007a0003c0008 | a0003c0007t0007a0003c0007t0014a0003c0008t0001others(2): Show | a0003c0007t0007g0322 a0003c0007t0014g0340 a0003c0007t0014g0341 others(7): Show |
11 | 388 | 0.0284 | -1 | c.-9+ others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20572974 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(153): Show |
a0001a0003a0005others(8): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(128): Show |
156 | 388 | 0.4021 | -1 | c.-9+ others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20575464 | GC | G | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0006a0006c0010others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0011others(6): Show | a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0006t0011g0110 others(14): Show |
18 | 388 | 0.0464 | -1 | c.-9+ others(7): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20578149 | TA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(372): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0004others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(62): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(330): Show |
375 | 388 | 0.9665 | -1 | c.-19 others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1783 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20579276 | AC | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(372): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0004others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(62): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(330): Show |
375 | 388 | 0.9665 | -1 | c.-30 others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2910 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20579625 | CT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(365): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(324): Show |
368 | 388 | 0.9485 | -1 | c.-34 others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 3259 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20579922 | CT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(372): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0004others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(62): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(330): Show |
375 | 388 | 0.9665 | -1 | c.-37 others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 3556 | chr16 | TogoVar |