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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM4_chr12_7299072_7333719 | 7310645 | A | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(113): Show |
a0001a0006a0007 | a0001c0002a0001c0009a0001c0015others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0009t0001others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0011others(32): Show | 116 | 430 | 0.2698 | 0 | c.519 others(3): Show |
p.Pro others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 3/13 | 779/2349 | 519/1743 | 173/580 | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7318092 | C | T | synonymous_variant | LOW | HG02809.hp2 NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0035 | 3 | 430 | 0.0070 | 0 | c.831 others(3): Show |
p.Ala others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 5/13 | 1091/2349 | 831/1743 | 277/580 | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7318131 | C | T | synonymous_variant | LOW | NA18939.hp2 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0059 | 1 | 430 | 0.0023 | 0 | c.870 others(3): Show |
p.Ala others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 5/13 | 1130/2349 | 870/1743 | 290/580 | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7322451 | C | T | synonymous_variant | LOW | HG04199.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0037 | 1 | 430 | 0.0023 | 0 | c.103 others(4): Show |
p.Thr others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 7/13 | 1295/2349 | 1035/1743 | 345/580 | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7323531 | C | A | synonymous_variant | LOW | HG06807.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0013 | 1 | 430 | 0.0023 | 0 | c.127 others(4): Show |
p.Arg others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 9/13 | 1539/2349 | 1279/1743 | 427/580 | chr12 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20411547 | G | A | synonymous_variant | LOW | HG02630.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0297 | 1 | 434 | 0.0023 | 0 | c.63G others(2): Show |
p.Gly others(5): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2/14 | 210/2796 | 63/1740 | 21/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20419352 | T | C | synonymous_variant | LOW | HG01074.hp2 HG01081.hp2 HG01257.hp1 others(10): Show |
a0005a0031 | a0005c0005a0031c0025 | a0005c0005t0003a0005c0005t0009a0005c0005t0012others(1): Show | a0005c0005t0003g0254a0005c0005t0009g0040a0005c0005t0009g0335others(8): Show | 13 | 434 | 0.0300 | 0 | c.540 others(3): Show |
p.Ser others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 4/14 | 687/2796 | 540/1740 | 180/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20419355 | C | T | synonymous_variant | LOW | HG02083.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0102 | 1 | 434 | 0.0023 | 0 | c.543 others(3): Show |
p.Ala others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 4/14 | 690/2796 | 543/1740 | 181/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20421258 | G | T | splice_region_variant others(1): Show |
LOW | NA19067.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0238 | 1 | 434 | 0.0023 | 0 | c.624 others(3): Show |
p.Arg others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/14 | 771/2796 | 624/1740 | 208/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20421336 | C | T | synonymous_variant | LOW | HG02615.hp1 | a0007 | a0007c0024 | a0007c0024t0006 | a0007c0024t0006g0041 | 1 | 434 | 0.0023 | 0 | c.702 others(3): Show |
p.Thr others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/14 | 849/2796 | 702/1740 | 234/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20423940 | T | G | synonymous_variant | LOW | HG00438.hp1 HG00621.hp2 HG01074.hp2 others(76): Show |
a0001a0002a0004others(11): Show | a0001c0007a0002c0028a0004c0004others(12): Show | a0001c0007t0007a0001c0007t0011a0002c0028t0008others(21): Show | a0001c0007t0007g0355a0001c0007t0007g0356a0001c0007t0007g0357others(66): Show | 79 | 434 | 0.1820 | 0 | c.792 others(3): Show |
p.Ser others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/14 | 939/2796 | 792/1740 | 264/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20429762 | T | C | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(279): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0007a0001c0021others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(244): Show | 282 | 434 | 0.6498 | 0 | c.108 others(4): Show |
p.Thr others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 8/14 | 1233/2796 | 1086/1740 | 362/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20437084 | A | G | synonymous_variant | LOW | HG03486.hp2 | a0001 | a0001c0037 | a0001c0037t0010 | a0001c0037t0010g0285 | 1 | 434 | 0.0023 | 0 | c.134 others(4): Show |
p.Gln others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 11/14 | 1488/2796 | 1341/1740 | 447/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20437096 | C | T | synonymous_variant | LOW | HG01109.hp2 | a0027 | a0027c0033 | a0027c0033t0004 | a0027c0033t0004g0287 | 1 | 434 | 0.0023 | 0 | c.135 others(4): Show |
p.Tyr others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 11/14 | 1500/2796 | 1353/1740 | 451/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20437322 | C | T | synonymous_variant | LOW | HG02145.hp1 HG02486.hp2 |
a0016 | a0016c0017 | a0016c0017t0010 | a0016c0017t0010g0050a0016c0017t0010g0051 | 2 | 434 | 0.0046 | 0 | c.149 others(4): Show |
p.Val others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 12/14 | 1638/2796 | 1491/1740 | 497/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20437328 | G | A | synonymous_variant | LOW | HG01175.hp2 HG06807.hp1 |
a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0188a0002c0016t0002g0196 | 2 | 434 | 0.0046 | 0 | c.149 others(4): Show |
p.Glu others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 12/14 | 1644/2796 | 1497/1740 | 499/579 | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20440373 | G | A | synonymous_variant | LOW | HG01175.hp1 | a0001 | a0001c0036 | a0001c0036t0002 | a0001c0036t0002g0256 | 1 | 434 | 0.0023 | 0 | c.168 others(4): Show |
p.Thr others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 14/14 | 1833/2796 | 1686/1740 | 562/579 | chr16 | TogoVar | ||
ACSM6_chr10_95189238_95233929 | 95211881 | G | A | synonymous_variant | LOW | HG00280.hp1 HG00323.hp1 HG01070.hp1 others(4): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0007a0002c0005t0001g0189a0002c0005t0001g0193others(2): Show | 7 | 314 | 0.0223 | 0 | c.759 others(3): Show |
p.Arg others(6): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 6/11 | 846/1675 | 759/1443 | 253/480 | chr10 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25013639 | G | A | synonymous_variant | LOW | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(25): Show |
a0001a0003a0005 | a0001c0003a0001c0010a0001c0025others(2): Show | a0001c0003t0003a0001c0010t0003a0001c0025t0003others(2): Show | a0001c0003t0003g0005a0001c0003t0003g0008a0001c0003t0003g0013others(21): Show | 28 | 244 | 0.1148 | 0 | c.147 others(4): Show |
p.Asn others(6): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 10/14 | 1513/3632 | 1476/2070 | 492/689 | chr20 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25013657 | G | A | synonymous_variant | LOW | HG01109.hp1 HG02055.hp2 HG02572.hp1 others(6): Show |
a0002a0007a0011 | a0002c0013a0002c0026a0002c0027others(2): Show | a0002c0013t0005a0002c0026t0001a0002c0027t0001others(3): Show | a0002c0013t0005g0088a0002c0013t0005g0197a0002c0013t0005g0206others(6): Show | 9 | 244 | 0.0369 | 0 | c.145 others(4): Show |
p.Ser others(6): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 10/14 | 1495/3632 | 1458/2070 | 486/689 | chr20 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25020098 | G | A | synonymous_variant | LOW | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0010a0002c0009others(5): Show | a0001c0003t0003a0001c0010t0003a0002c0009t0001others(5): Show | a0001c0003t0003g0005a0001c0003t0003g0008a0001c0003t0003g0013others(34): Show | 41 | 244 | 0.1680 | 0 | c.115 others(4): Show |
p.Gly others(6): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 7/14 | 1195/3632 | 1158/2070 | 386/689 | chr20 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25022955 | G | A | synonymous_variant | LOW | HG03540.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0170 | 1 | 244 | 0.0041 | 0 | c.945 others(3): Show |
p.Ala others(6): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 5/14 | 982/3632 | 945/2070 | 315/689 | chr20 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25023069 | A | C | synonymous_variant | LOW | HG01243.hp1 HG01256.hp1 HG02148.hp2 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0007a0001c0025a0002c0026others(2): Show | a0001c0007t0001a0001c0007t0006a0001c0025t0003others(3): Show | a0001c0007t0001g0082a0001c0007t0001g0083a0001c0007t0001g0138others(9): Show | 12 | 244 | 0.0492 | 0 | c.831 others(3): Show |
p.Val others(6): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 5/14 | 868/3632 | 831/2070 | 277/689 | chr20 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25030787 | T | C | synonymous_variant | LOW | HG00323.hp2 HG00558.hp2 HG00639.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0007a0001c0010others(12): Show | a0001c0003t0003a0001c0007t0001a0001c0007t0006others(14): Show | a0001c0003t0003g0005a0001c0003t0003g0008a0001c0003t0003g0013others(64): Show | 73 | 244 | 0.2992 | 0 | c.603 others(3): Show |
p.Ala others(6): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 3/14 | 640/3632 | 603/2070 | 201/689 | chr20 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25057848 | G | T | synonymous_variant | LOW | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(44): Show |
a0001a0002a0012 | a0001c0002a0001c0010a0002c0005others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0009others(4): Show | a0001c0002t0001g0036a0001c0002t0001g0037a0001c0002t0001g0040others(42): Show | 47 | 244 | 0.1926 | 0 | c.255 others(3): Show |
p.Thr others(5): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 1/14 | 292/3632 | 255/2070 | 85/689 | chr20 | TogoVar | ||
ACSS1_chr20_25001237_25063139 | 25057935 | G | C | synonymous_variant | LOW | HG03491.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0208 | 1 | 244 | 0.0041 | 0 | c.168 others(3): Show |
p.Gly others(5): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 1/14 | 205/3632 | 168/2070 | 56/689 | chr20 | TogoVar | ||
ACSS2_chr20_34871612_34932959 | 34882891 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(159): Show |
a0001a0004 | a0001c0001a0001c0014a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0014t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(155): Show | 162 | 312 | 0.5192 | 0 | c.276 others(3): Show |
p.Phe others(5): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/18 | 310/2885 | 276/2106 | 92/701 | chr20 | TogoVar | ||
ACSS2_chr20_34871612_34932959 | 34920592 | G | A | synonymous_variant | LOW | NA21309.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0018 | 1 | 312 | 0.0032 | 0 | c.102 others(4): Show |
p.Lys others(6): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 9/18 | 1060/2885 | 1026/2106 | 342/701 | chr20 | TogoVar | ||
ACSS2_chr20_34871612_34932959 | 34921023 | A | G | synonymous_variant | LOW | HG00738.hp1 HG00741.hp1 HG01109.hp1 others(36): Show |
a0001a0003a0008 | a0001c0003a0001c0014a0003c0005others(1): Show | a0001c0003t0001a0001c0014t0001a0003c0005t0001others(1): Show | a0001c0003t0001g0004a0001c0003t0001g0101a0001c0003t0001g0102others(33): Show | 39 | 312 | 0.1250 | 0 | c.116 others(4): Show |
p.Thr others(6): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 10/18 | 1195/2885 | 1161/2106 | 387/701 | chr20 | TogoVar | ||
ACSS2_chr20_34871612_34932959 | 34926262 | C | T | synonymous_variant | LOW | NA20300.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0072 | 1 | 312 | 0.0032 | 0 | c.188 others(4): Show |
p.Thr others(6): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 16/18 | 1918/2885 | 1884/2106 | 628/701 | chr20 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81078333 | C | G | synonymous_variant | LOW | HG03831.hp1 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0039 | 1 | 290 | 0.0035 | 0 | c.213 others(3): Show |
p.Thr others(5): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/16 | 255/8391 | 213/2061 | 71/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81109698 | G | A | synonymous_variant | LOW | HG03130.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0005 | 1 | 290 | 0.0035 | 0 | c.450 others(3): Show |
p.Leu others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 2/16 | 492/8391 | 450/2061 | 150/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81139166 | A | G | synonymous_variant | LOW | HG03041.hp1 HG03225.hp2 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0133a0001c0008t0002g0134 | 2 | 290 | 0.0069 | 0 | c.681 others(3): Show |
p.Glu others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4/16 | 723/8391 | 681/2061 | 227/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81139184 | G | A | synonymous_variant | LOW | HG02965.hp1 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0233 | 1 | 290 | 0.0035 | 0 | c.699 others(3): Show |
p.Glu others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4/16 | 741/8391 | 699/2061 | 233/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81143127 | C | G | synonymous_variant | LOW | HG02451.hp1 | a0001 | a0001c0013 | a0001c0013t0018 | a0001c0013t0018g0290 | 1 | 290 | 0.0035 | 0 | c.801 others(3): Show |
p.Pro others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 5/16 | 843/8391 | 801/2061 | 267/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81199440 | A | G | synonymous_variant | LOW | HG02922.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0041 | 1 | 290 | 0.0035 | 0 | c.135 others(4): Show |
p.Gln others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/16 | 1392/8391 | 1350/2061 | 450/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81216923 | G | A | synonymous_variant | LOW | HG01069.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0006 | a0001c0006t0003a0001c0006t0011 | a0001c0006t0003g0246a0001c0006t0011g0234a0001c0006t0011g0254 | 3 | 290 | 0.0103 | 0 | c.137 others(4): Show |
p.Ala others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 10/16 | 1419/8391 | 1377/2061 | 459/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81233459 | C | T | synonymous_variant | LOW | HG00423.hp2 HG00558.hp2 HG00738.hp2 others(56): Show |
a0001a0002a0004 | a0001c0002a0001c0008a0001c0016others(2): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0021others(6): Show | a0001c0002t0002g0001a0001c0002t0002g0009a0001c0002t0002g0024others(56): Show | 59 | 290 | 0.2035 | 0 | c.170 others(4): Show |
p.Gly others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/16 | 1749/8391 | 1707/2061 | 569/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81253511 | G | A | synonymous_variant | LOW | HG02027.hp1 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0140 | 1 | 290 | 0.0035 | 0 | c.183 others(4): Show |
p.Glu others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 15/16 | 1878/8391 | 1836/2061 | 612/686 | chr12 | TogoVar | ||
ACSS3_chr12_81073079_81266210 | 81253661 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00323.hp2 HG02080.hp1 others(24): Show |
a0001a0002a0003 | a0001c0005a0002c0003a0003c0007 | a0001c0005t0005a0001c0005t0007a0002c0003t0005others(1): Show | a0001c0005t0005g0222a0001c0005t0005g0223a0001c0005t0005g0245others(24): Show | 27 | 290 | 0.0931 | 0 | c.198 others(4): Show |
p.Lys others(6): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 15/16 | 2028/8391 | 1986/2061 | 662/686 | chr12 | TogoVar | ||
ACTA1_chr1_229426245_229439094 | 229431637 | G | T | synonymous_variant | LOW | HG02559.hp2 HG02630.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0010a0001c0005t0001g0022 | 7 | 450 | 0.0156 | 0 | c.996 others(3): Show |
p.Ile others(6): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 7/7 | 1099/1491 | 996/1134 | 332/377 | chr1 | TogoVar | ||
ACTA1_chr1_229426245_229439094 | 229432016 | C | G | synonymous_variant | LOW | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0022 | 1 | 450 | 0.0022 | 0 | c.786 others(3): Show |
p.Thr others(6): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 5/7 | 889/1491 | 786/1134 | 262/377 | chr1 | TogoVar | ||
ACTA1_chr1_229426245_229439094 | 229432337 | C | T | synonymous_variant | LOW | HG03710.hp2 NA18747.hp2 NA18984.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 3 | 450 | 0.0067 | 0 | c.549 others(3): Show |
p.Ala others(6): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 4/7 | 652/1491 | 549/1134 | 183/377 | chr1 | TogoVar | ||
ACTA1_chr1_229426245_229439094 | 229432557 | G | T | splice_region_variant others(1): Show |
LOW | HG01106.hp1 HG02451.hp2 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 3 | 450 | 0.0067 | 0 | c.453 others(3): Show |
p.Thr others(6): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 3/7 | 556/1491 | 453/1134 | 151/377 | chr1 | TogoVar | ||
ACTA1_chr1_229426245_229439094 | 229432878 | G | A | splice_region_variant others(1): Show |
LOW | HG01099.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0030 | 1 | 450 | 0.0022 | 0 | c.132 others(3): Show |
p.Gly others(5): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 3/7 | 235/1491 | 132/1134 | 44/377 | chr1 | TogoVar | ||
ACTA2_chr10_88930074_88957773 | 88939508 | G | A | splice_region_variant others(1): Show |
LOW | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 402 | 0.0025 | 0 | c.807 others(3): Show |
p.Ile others(6): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 7/9 | 873/1349 | 807/1134 | 269/377 | chr10 | TogoVar | ||
ACTBL2_chr5_57475018_57487811 | 57481676 | G | A | synonymous_variant | LOW | NA18994.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0000 | 1 | 448 | 0.0022 | 0 | c.103 others(4): Show |
p.Gly others(6): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 1/1 | 1136/2794 | 1032/1131 | 344/376 | chr5 | TogoVar | ||
ACTBL2_chr5_57475018_57487811 | 57481850 | G | A | synonymous_variant | LOW | HG00741.hp1 HG01109.hp1 HG01884.hp2 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0004a0004c0006others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0013others(3): Show | a0001c0002t0001g0000a0001c0002t0004g0000a0001c0002t0013g0000others(3): Show | 27 | 448 | 0.0603 | 0 | c.858 others(3): Show |
p.Cys others(6): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 1/1 | 962/2794 | 858/1131 | 286/376 | chr5 | TogoVar | ||
ACTBL2_chr5_57475018_57487811 | 57482012 | G | A | synonymous_variant | LOW | HG02630.hp2 HG02818.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0000 | 2 | 448 | 0.0045 | 0 | c.696 others(3): Show |
p.Ala others(6): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 1/1 | 800/2794 | 696/1131 | 232/376 | chr5 | TogoVar | ||
ACTBL2_chr5_57475018_57487811 | 57482276 | A | G | synonymous_variant | LOW | HG00642.hp1 HG01496.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0000 | 12 | 448 | 0.0268 | 0 | c.432 others(3): Show |
p.Tyr others(6): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 1/1 | 536/2794 | 432/1131 | 144/376 | chr5 | TogoVar |