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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASIC2_chr17_33008087_33298295 | 33291533 | G | A | synonymous_variant | LOW | HG00544.hp2 HG00621.hp2 HG00735.hp1 others(35): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0004others(5): Show | a0001c0004t0001g0001a0001c0004t0001g0141a0001c0004t0001g0149others(34): Show | 38 | 240 | 0.1583 | 0 | c.583 others(3): Show |
p.Leu others(6): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 1763/3750 | 583/1692 | 195/563 | chr17 | TogoVar | ||
ASIC2_chr17_33008087_33298295 | 33291714 | A | G | synonymous_variant | LOW | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(140): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(30): Show | a0001c0002t0001g0097a0001c0002t0001g0110a0001c0002t0001g0111others(139): Show | 143 | 240 | 0.5958 | 0 | c.402 others(3): Show |
p.Thr others(6): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 1582/3750 | 402/1692 | 134/563 | chr17 | TogoVar | ||
ASIC2_chr17_33008087_33298295 | 33291954 | G | A | synonymous_variant | LOW | HG01261.hp2 HG01517.hp1 |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0082a0001c0005t0006g0083 | 2 | 240 | 0.0083 | 0 | c.162 others(3): Show |
p.Ala others(5): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 1342/3750 | 162/1692 | 54/563 | chr17 | TogoVar | ||
ASIC3_chr7_151043531_151057754 | 151049026 | G | A | synonymous_variant | LOW | HG00738.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0001 | 1 | 418 | 0.0024 | 0 | c.141 others(3): Show |
p.Ala others(5): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 496/2053 | 141/1596 | 47/531 | chr7 | TogoVar | ||
ASIC3_chr7_151043531_151057754 | 151049251 | C | T | synonymous_variant | LOW | HG01168.hp1 HG01169.hp1 HG04228.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0002 | 3 | 418 | 0.0072 | 0 | c.366 others(3): Show |
p.His others(6): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 721/2053 | 366/1596 | 122/531 | chr7 | TogoVar | ||
ASIC3_chr7_151043531_151057754 | 151050563 | G | T | synonymous_variant | LOW | HG00609.hp2 HG00735.hp1 HG00738.hp1 others(13): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0004a0001c0003t0001g0014others(1): Show | 16 | 418 | 0.0383 | 0 | c.768 others(3): Show |
p.Gly others(6): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 3/11 | 1123/2053 | 768/1596 | 256/531 | chr7 | TogoVar | ||
ASIC3_chr7_151043531_151057754 | 151050850 | C | A | synonymous_variant | LOW | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0006 | a0001c0002t0001g0004a0001c0002t0001g0013a0001c0002t0001g0021others(2): Show | 25 | 418 | 0.0598 | 0 | c.906 others(3): Show |
p.Pro others(6): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 4/11 | 1261/2053 | 906/1596 | 302/531 | chr7 | TogoVar | ||
ASIC3_chr7_151043531_151057754 | 151052616 | C | T | synonymous_variant | LOW | HG01109.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0001 | 1 | 418 | 0.0024 | 0 | c.156 others(4): Show |
p.Ala others(6): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 11/11 | 1915/2053 | 1560/1596 | 520/531 | chr7 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219514838 | C | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(173): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0029a0001c0031others(12): Show | a0001c0002t0001a0001c0002t0004a0001c0029t0001others(14): Show | a0001c0002t0001g0001a0001c0002t0001g0006a0001c0002t0001g0022others(115): Show | 176 | 372 | 0.4731 | 0 | c.114 others(3): Show |
p.Ala others(5): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/10 | 357/2589 | 114/1620 | 38/539 | chr2 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219515063 | G | A | synonymous_variant | LOW | HG02723.hp2 HG02809.hp2 |
a0001a0010 | a0001c0015a0010c0014 | a0001c0015t0001a0010c0014t0002 | a0001c0015t0001g0158a0010c0014t0002g0144 | 2 | 372 | 0.0054 | 0 | c.339 others(3): Show |
p.Pro others(6): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/10 | 582/2589 | 339/1620 | 113/539 | chr2 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219515105 | A | G | synonymous_variant | LOW | HG02109.hp2 HG02615.hp2 HG02647.hp2 others(4): Show |
a0001a0004 | a0001c0015a0001c0024a0004c0011 | a0001c0015t0001a0001c0024t0001a0004c0011t0001 | a0001c0015t0001g0158a0001c0024t0001g0159a0004c0011t0001g0038others(4): Show | 7 | 372 | 0.0188 | 0 | c.381 others(3): Show |
p.Ala others(6): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/10 | 624/2589 | 381/1620 | 127/539 | chr2 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219532350 | C | T | synonymous_variant | LOW | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0022a0002c0023a0002c0035others(4): Show | a0001c0022t0001a0002c0023t0001a0002c0035t0001others(4): Show | a0001c0022t0001g0218a0002c0023t0001g0238a0002c0035t0001g0239others(14): Show | 18 | 372 | 0.0484 | 0 | c.891 others(3): Show |
p.Arg others(6): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 4/10 | 1134/2589 | 891/1620 | 297/539 | chr2 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219535229 | A | G | synonymous_variant | LOW | HG00323.hp1 HG00597.hp1 HG00609.hp2 others(110): Show |
a0001a0002a0003others(4): Show | a0001c0018a0001c0021a0001c0031others(16): Show | a0001c0018t0001a0001c0021t0001a0001c0031t0001others(19): Show | a0001c0018t0001g0149a0001c0021t0001g0208a0001c0031t0001g0069others(88): Show | 113 | 372 | 0.3038 | 0 | c.113 others(4): Show |
p.Thr others(6): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 6/10 | 1377/2589 | 1134/1620 | 378/539 | chr2 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219535292 | G | A | synonymous_variant | LOW | HG00597.hp1 HG00609.hp2 HG01109.hp1 others(51): Show |
a0001a0002a0004others(3): Show | a0001c0018a0001c0031a0002c0006others(11): Show | a0001c0018t0001a0001c0031t0001a0002c0006t0001others(13): Show | a0001c0018t0001g0149a0001c0031t0001g0069a0002c0006t0001g0015others(40): Show | 54 | 372 | 0.1452 | 0 | c.119 others(4): Show |
p.Ala others(6): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 6/10 | 1440/2589 | 1197/1620 | 399/539 | chr2 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219537655 | G | T | synonymous_variant | LOW | HG03516.hp1 | a0002 | a0002c0032 | a0002c0032t0006 | a0002c0032t0006g0105 | 1 | 372 | 0.0027 | 0 | c.142 others(4): Show |
p.Arg others(6): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 9/10 | 1668/2589 | 1425/1620 | 475/539 | chr2 | TogoVar | ||
ASIC4_chr2_219509482_219543772 | 219537959 | G | A | synonymous_variant | LOW | NA19068.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0122 | 1 | 372 | 0.0027 | 0 | c.153 others(4): Show |
p.Val others(6): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 10/10 | 1776/2589 | 1533/1620 | 511/539 | chr2 | TogoVar | ||
ASIC5_chr4_155824729_155871277 | 155831825 | A | G | splice_region_variant others(1): Show |
LOW | HG01981.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0060 | 1 | 334 | 0.0030 | 0 | c.132 others(4): Show |
p.Leu others(6): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 9/10 | 1377/1696 | 1326/1518 | 442/505 | chr4 | TogoVar | ||
ASIC5_chr4_155824729_155871277 | 155863513 | C | T | synonymous_variant | LOW | HG00140.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0090 | 1 | 334 | 0.0030 | 0 | c.282 others(3): Show |
p.Thr others(5): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 2/10 | 333/1696 | 282/1518 | 94/505 | chr4 | TogoVar | ||
ASIC5_chr4_155824729_155871277 | 155863519 | G | A | synonymous_variant | LOW | HG01123.hp2 HG02083.hp1 HG02280.hp1 others(18): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0001c0003t0003a0003c0006t0003 | a0001c0003t0001g0030a0001c0003t0001g0072a0001c0003t0003g0011others(12): Show | 21 | 334 | 0.0629 | 0 | c.276 others(3): Show |
p.Thr others(5): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 2/10 | 327/1696 | 276/1518 | 92/505 | chr4 | TogoVar | ||
ASIC5_chr4_155824729_155871277 | 155866188 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(276): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(148): Show | 279 | 334 | 0.8353 | 0 | c.39C others(2): Show |
p.Asn others(5): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 1/10 | 90/1696 | 39/1518 | 13/505 | chr4 | TogoVar | ||
ASIP_chr20_34236423_34274344 | 34260488 | C | T | synonymous_variant | LOW | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0001 | 1 | 306 | 0.0033 | 0 | c.114 others(3): Show |
p.Ser others(5): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 2/4 | 191/653 | 114/399 | 38/132 | chr20 | TogoVar | ||
ASIP_chr20_34236423_34274344 | 34269032 | C | A | synonymous_variant | LOW | HG00140.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0023 | 1 | 306 | 0.0033 | 0 | c.264 others(3): Show |
p.Pro others(5): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 4/4 | 341/653 | 264/399 | 88/132 | chr20 | TogoVar | ||
ASIP_chr20_34236423_34274344 | 34269032 | C | G | synonymous_variant | LOW | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0183 | 1 | 306 | 0.0033 | 0 | c.264 others(3): Show |
p.Pro others(5): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 4/4 | 341/653 | 264/399 | 88/132 | chr20 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66081931 | G | A | synonymous_variant | LOW | HG02071.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0010 | 1 | 316 | 0.0032 | 0 | c.141 others(3): Show |
p.Arg others(5): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 3/17 | 222/2140 | 141/1395 | 47/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66081973 | C | T | synonymous_variant | LOW | HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0106a0001c0006t0001g0107 | 2 | 316 | 0.0063 | 0 | c.183 others(3): Show |
p.Asp others(5): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 3/17 | 264/2140 | 183/1395 | 61/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66082897 | G | A | synonymous_variant | LOW | HG02109.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0083 | 1 | 316 | 0.0032 | 0 | c.309 others(3): Show |
p.Thr others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 5/17 | 390/2140 | 309/1395 | 103/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66086750 | C | A | synonymous_variant | LOW | NA18954.hp1 NA18986.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0004a0001c0005t0001g0036 | 2 | 316 | 0.0063 | 0 | c.531 others(3): Show |
p.Ala others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/17 | 612/2140 | 531/1395 | 177/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66086775 | C | A | synonymous_variant | LOW | HG02615.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0047 | 1 | 316 | 0.0032 | 0 | c.556 others(3): Show |
p.Arg others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/17 | 637/2140 | 556/1395 | 186/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66086795 | G | A | synonymous_variant | LOW | HG02145.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097a0001c0003t0001g0098a0001c0003t0001g0099others(1): Show | 4 | 316 | 0.0127 | 0 | c.576 others(3): Show |
p.Lys others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/17 | 657/2140 | 576/1395 | 192/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66089148 | G | A | synonymous_variant | LOW | NA18955.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0068 | 1 | 316 | 0.0032 | 0 | c.891 others(3): Show |
p.Arg others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 12/17 | 972/2140 | 891/1395 | 297/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66089284 | G | T | synonymous_variant | LOW | HG02109.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0083 | 1 | 316 | 0.0032 | 0 | c.927 others(3): Show |
p.Gly others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 13/17 | 1008/2140 | 927/1395 | 309/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66089290 | G | A | synonymous_variant | LOW | HG03491.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0151 | 1 | 316 | 0.0032 | 0 | c.933 others(3): Show |
p.Leu others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 13/17 | 1014/2140 | 933/1395 | 311/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66092577 | C | T | synonymous_variant | LOW | HG00438.hp2 HG01934.hp1 HG02523.hp1 others(11): Show |
a0001a0003 | a0001c0002a0003c0014 | a0001c0002t0001a0003c0014t0001 | a0001c0002t0001g0013a0001c0002t0001g0014a0001c0002t0001g0020others(6): Show | 14 | 316 | 0.0443 | 0 | c.116 others(4): Show |
p.His others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 16/17 | 1245/2140 | 1164/1395 | 388/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66092646 | G | A | synonymous_variant | LOW | NA18980.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0011 | 1 | 316 | 0.0032 | 0 | c.123 others(4): Show |
p.Gln others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 16/17 | 1314/2140 | 1233/1395 | 411/464 | chr7 | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1403437 | C | T | synonymous_variant | LOW | HG01891.hp2 | a0016 | a0016c0028 | a0016c0028t0001 | a0016c0028t0001g0160 | 1 | 185 | 0.0054 | 0 | c.169 others(4): Show |
p.Ala others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 13/13 | 1767/2065 | 1698/1866 | 566/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1412808 | C | T | synonymous_variant | LOW | HG01884.hp2 HG01891.hp2 NA18906.hp1 |
a0007a0016 | a0007c0017a0016c0028 | a0007c0017t0001a0016c0028t0001 | a0007c0017t0001g0167a0007c0017t0001g0168a0016c0028t0001g0160 | 3 | 185 | 0.0162 | 0 | c.156 others(4): Show |
p.Leu others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/13 | 1638/2065 | 1569/1866 | 523/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1418109 | C | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0035others(19): Show | a0001c0001t0001a0001c0008t0001a0001c0035t0001others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(115): Show | 119 | 185 | 0.6432 | 0 | c.138 others(4): Show |
p.Thr others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/13 | 1455/2065 | 1386/1866 | 462/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1418992 | G | A | synonymous_variant | LOW | HG01123.hp1 HG02559.hp1 HG02970.hp2 others(2): Show |
a0002a0005 | a0002c0015a0002c0031a0002c0033others(1): Show | a0002c0015t0001a0002c0031t0001a0002c0033t0001others(1): Show | a0002c0015t0001g0001a0002c0031t0001g0131a0002c0033t0001g0171others(1): Show | 5 | 185 | 0.0270 | 0 | c.136 others(4): Show |
p.Cys others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 10/13 | 1437/2065 | 1368/1866 | 456/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1421673 | C | T | synonymous_variant | LOW | HG02080.hp1 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0122 | 1 | 185 | 0.0054 | 0 | c.123 others(4): Show |
p.Ala others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 9/13 | 1299/2065 | 1230/1866 | 410/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1425649 | C | T | synonymous_variant | LOW | HG00741.hp1 HG02896.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0011a0001c0042 | a0001c0011t0001a0001c0042t0001 | a0001c0011t0001g0014a0001c0011t0001g0174a0001c0011t0001g0178others(1): Show | 4 | 185 | 0.0216 | 0 | c.936 others(3): Show |
p.Leu others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/13 | 1005/2065 | 936/1866 | 312/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1425676 | G | A | synonymous_variant | LOW | HG03041.hp1 | a0010 | a0010c0041 | a0010c0041t0001 | a0010c0041t0001g0161 | 1 | 185 | 0.0054 | 0 | c.909 others(3): Show |
p.Thr others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/13 | 978/2065 | 909/1866 | 303/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1427899 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0008a0001c0013others(24): Show | a0001c0001t0001a0001c0008t0001a0001c0013t0001others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(122): Show | 126 | 185 | 0.6811 | 0 | c.732 others(3): Show |
p.Gly others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 7/13 | 801/2065 | 732/1866 | 244/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1427899 | G | C | synonymous_variant | LOW | HG01192.hp2 | a0019 | a0019c0021 | a0019c0021t0001 | a0019c0021t0001g0101 | 1 | 185 | 0.0054 | 0 | c.732 others(3): Show |
p.Gly others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 7/13 | 801/2065 | 732/1866 | 244/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1427983 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0013others(25): Show | a0001c0001t0001a0001c0008t0001a0001c0013t0001others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(123): Show | 127 | 185 | 0.6865 | 0 | c.648 others(3): Show |
p.Arg others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 7/13 | 717/2065 | 648/1866 | 216/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1428100 | C | A | synonymous_variant | LOW | HG00741.hp1 HG02615.hp1 HG02896.hp2 others(3): Show |
a0000a0001a0002 | a0000c0043a0001c0011a0001c0042others(1): Show | a0000c0043t0001a0001c0011t0001a0001c0042t0001others(1): Show | a0000c0043t0001g0069a0001c0011t0001g0014a0001c0011t0001g0174others(3): Show | 6 | 185 | 0.0324 | 0 | c.531 others(3): Show |
p.Gly others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 7/13 | 600/2065 | 531/1866 | 177/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1432280 | G | A | synonymous_variant | LOW | HG00639.hp2 HG01123.hp2 |
a0002a0003 | a0002c0034a0003c0044 | a0002c0034t0001a0003c0044t0001 | a0002c0034t0001g0136a0003c0044t0001g0011 | 2 | 185 | 0.0108 | 0 | c.498 others(3): Show |
p.Ser others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/13 | 567/2065 | 498/1866 | 166/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1435756 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(58): Show |
a0000a0001a0002others(9): Show | a0000c0039a0000c0043a0001c0008others(16): Show | a0000c0039t0001a0000c0043t0001a0001c0008t0001others(16): Show | a0000c0039t0001g0148a0000c0043t0001g0069a0001c0008t0001g0004others(58): Show | 61 | 185 | 0.3297 | 0 | c.276 others(3): Show |
p.Thr others(5): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4/13 | 345/2065 | 276/1866 | 92/621 | chrX | TogoVar | ||
ASMT_chrX_1610059_1648081 | 1633208 | C | G | synonymous_variant | LOW | NA18939.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0101 | 1 | 223 | 0.0045 | 0 | c.705 others(3): Show |
p.Thr others(6): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/9 | 846/1330 | 705/1122 | 235/373 | chrX | TogoVar | ||
ASMT_chrX_1610059_1648081 | 1633238 | G | A | synonymous_variant | LOW | HG02622.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0010 | 1 | 223 | 0.0045 | 0 | c.735 others(3): Show |
p.Thr others(6): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/9 | 876/1330 | 735/1122 | 245/373 | chrX | TogoVar | ||
ASMT_chrX_1610059_1648081 | 1636511 | C | T | synonymous_variant | LOW | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0006a0003c0009others(2): Show | a0001c0003t0001a0001c0003t0002a0002c0006t0001others(3): Show | a0001c0003t0001g0013a0001c0003t0001g0022a0001c0003t0001g0023others(33): Show | 36 | 223 | 0.1614 | 0 | c.861 others(3): Show |
p.Asp others(6): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/9 | 1002/1330 | 861/1122 | 287/373 | chrX | TogoVar |