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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD42_chr11_83188712_83253971 | 83227748 | T | G | splice_region_variant others(1): Show |
LOW | HG01074.hp1 HG01099.hp2 HG01109.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0016a0002c0003t0018a0002c0003t0026others(1): Show | a0002c0003t0016g0271a0002c0003t0016g0272a0002c0003t0016g0273others(5): Show | 8 | 350 | 0.0229 | 0 | c.789 others(3): Show |
p.Thr others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 7/11 | 1748/3310 | 789/1584 | 263/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83240897 | T | C | synonymous_variant | LOW | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0036 | a0001c0007t0036g0293 | 1 | 350 | 0.0029 | 0 | c.115 others(4): Show |
p.Asp others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 9/11 | 2117/3310 | 1158/1584 | 386/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83245538 | G | T | synonymous_variant | LOW | HG00733.hp2 HG00741.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0019a0001c0002t0028others(1): Show | a0001c0002t0011g0002a0001c0002t0011g0097a0001c0002t0011g0126others(3): Show | 10 | 350 | 0.0286 | 0 | c.123 others(4): Show |
p.Leu others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 10/11 | 2195/3310 | 1236/1584 | 412/527 | chr11 | TogoVar | ||
ANKRD44_chr2_196981662_197315780 | 196998974 | G | A | synonymous_variant | LOW | HG03492.hp1 HG03688.hp2 HG03704.hp2 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0005a0001c0007t0005 | a0001c0005t0005g0015a0001c0005t0005g0031a0001c0007t0005g0099 | 3 | 114 | 0.0263 | 0 | c.259 others(4): Show |
p.Asn others(6): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 24/28 | 2774/6087 | 2598/2982 | 866/993 | chr2 | TogoVar | ||
ANKRD44_chr2_196981662_197315780 | 196999019 | A | G | synonymous_variant | LOW | HG03471.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0113 | 1 | 114 | 0.0088 | 0 | c.255 others(4): Show |
p.His others(6): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 24/28 | 2729/6087 | 2553/2982 | 851/993 | chr2 | TogoVar | ||
ANKRD44_chr2_196981662_197315780 | 197013524 | T | C | synonymous_variant | LOW | HG03486.hp1 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0053 | 1 | 114 | 0.0088 | 0 | c.191 others(4): Show |
p.Pro others(6): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 18/28 | 2087/6087 | 1911/2982 | 637/993 | chr2 | TogoVar | ||
ANKRD44_chr2_196981662_197315780 | 197081668 | C | T | synonymous_variant | LOW | HG00738.hp2 HG01071.hp1 HG01361.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0024a0002c0003t0001g0039a0002c0003t0001g0046others(4): Show | 7 | 114 | 0.0614 | 0 | c.151 others(4): Show |
p.Glu others(6): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 15/28 | 1691/6087 | 1515/2982 | 505/993 | chr2 | TogoVar | ||
ANKRD44_chr2_196981662_197315780 | 197089993 | G | A | synonymous_variant | LOW | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0005 | a0001c0004t0002g0016a0001c0004t0005g0020a0001c0004t0005g0021others(1): Show | 4 | 114 | 0.0351 | 0 | c.114 others(4): Show |
p.Ala others(6): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 11/28 | 1316/6087 | 1140/2982 | 380/993 | chr2 | TogoVar | ||
ANKRD44_chr2_196981662_197315780 | 197136595 | A | G | synonymous_variant | LOW | HG00639.hp2 HG00738.hp2 HG00741.hp1 others(52): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0002t0001g0026a0001c0002t0001g0064a0001c0002t0001g0080others(52): Show | 55 | 114 | 0.4825 | 0 | c.258 others(3): Show |
p.Ser others(5): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 4/28 | 434/6087 | 258/2982 | 86/993 | chr2 | TogoVar | ||
ANKRD45_chr1_173603336_173674851 | 173627134 | A | G | synonymous_variant | LOW | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(4): Show | a0002c0002t0002g0024a0002c0002t0002g0039a0002c0002t0002g0040others(54): Show | 59 | 342 | 0.1725 | 0 | c.522 others(3): Show |
p.Tyr others(6): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 4/6 | 572/2660 | 522/801 | 174/266 | chr1 | TogoVar | ||
ANKRD46_chr8_100515772_100564759 | 100527925 | A | G | synonymous_variant | LOW | HG00741.hp2 HG01123.hp2 HG02040.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0020a0001c0002t0005g0054a0001c0002t0005g0055others(2): Show | 6 | 400 | 0.0150 | 0 | c.390 others(3): Show |
p.Ser others(6): Show |
ANKRD46 | ENSG00000186106.11 | transcript | ENST00000335659.7 | protein_coding | 4/5 | 569/2649 | 390/687 | 130/228 | chr8 | TogoVar | ||
ANKRD49_chr11_94488984_94504578 | 94498079 | A | G | synonymous_variant | LOW | HG02735.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0001 | 1 | 456 | 0.0022 | 0 | c.267 others(3): Show |
p.Thr others(5): Show |
ANKRD49 | ENSG00000168876.9 | transcript | ENST00000544612.6 | protein_coding | 3/3 | 409/1908 | 267/720 | 89/239 | chr11 | TogoVar | ||
ANKRD49_chr11_94488984_94504578 | 94498091 | C | G | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(221): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0003c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0005others(21): Show | 224 | 456 | 0.4912 | 0 | c.279 others(3): Show |
p.Leu others(5): Show |
ANKRD49 | ENSG00000168876.9 | transcript | ENST00000544612.6 | protein_coding | 3/3 | 421/1908 | 279/720 | 93/239 | chr11 | TogoVar | ||
ANKRD49_chr11_94488984_94504578 | 94498157 | A | T | synonymous_variant | LOW | HG02074.hp2 HG02080.hp1 NA18942.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0001a0001c0004t0001g0001 | 14 | 456 | 0.0307 | 0 | c.345 others(3): Show |
p.Ala others(6): Show |
ANKRD49 | ENSG00000168876.9 | transcript | ENST00000544612.6 | protein_coding | 3/3 | 487/1908 | 345/720 | 115/239 | chr11 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124669212 | C | T | synonymous_variant | LOW | HG03490.hp1 HG03927.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0069a0001c0007t0001g0070 | 2 | 382 | 0.0052 | 0 | c.406 others(4): Show |
p.Gln others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 5103/8798 | 4065/4290 | 1355/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124669323 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00323.hp2 HG00597.hp1 others(86): Show |
a0001a0002a0008 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0015others(5): Show | a0001c0002t0002g0002a0001c0002t0002g0016a0001c0002t0002g0018others(47): Show | 89 | 382 | 0.2330 | 0 | c.395 others(4): Show |
p.Pro others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 4992/8798 | 3954/4290 | 1318/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124669914 | T | C | synonymous_variant | LOW | HG03209.hp2 NA19030.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0238a0001c0008t0001g0239 | 2 | 382 | 0.0052 | 0 | c.336 others(4): Show |
p.Leu others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 4401/8798 | 3363/4290 | 1121/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124670265 | G | A | synonymous_variant | LOW | HG02055.hp1 | a0009 | a0009c0016 | a0009c0016t0017 | a0009c0016t0017g0188 | 1 | 382 | 0.0026 | 0 | c.301 others(4): Show |
p.Asp others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 4050/8798 | 3012/4290 | 1004/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124670268 | A | T | synonymous_variant | LOW | HG00099.hp1 HG00735.hp1 HG01074.hp2 others(12): Show |
a0001a0002 | a0001c0004a0002c0010 | a0001c0004t0002a0002c0010t0002 | a0001c0004t0002g0017a0001c0004t0002g0021a0001c0004t0002g0041others(5): Show | 15 | 382 | 0.0393 | 0 | c.300 others(4): Show |
p.Ala others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 4047/8798 | 3009/4290 | 1003/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124670532 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(117): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0015others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0016a0001c0002t0002g0018others(72): Show | 120 | 382 | 0.3141 | 0 | c.274 others(4): Show |
p.Asn others(6): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 3783/8798 | 2745/4290 | 915/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124670910 | C | A | synonymous_variant | LOW | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(117): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0015others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0016a0001c0002t0002g0018others(72): Show | 120 | 382 | 0.3141 | 0 | c.236 others(4): Show |
p.Ala others(6): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 3405/8798 | 2367/4290 | 789/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124671285 | T | C | synonymous_variant | LOW | HG00323.hp1 HG00408.hp1 HG00642.hp1 others(15): Show |
a0001 | a0001c0003a0001c0019 | a0001c0003t0001a0001c0003t0003a0001c0019t0003 | a0001c0003t0001g0204a0001c0003t0001g0205a0001c0003t0001g0206others(11): Show | 18 | 382 | 0.0471 | 0 | c.199 others(4): Show |
p.Leu others(6): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 3030/8798 | 1992/4290 | 664/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124671714 | G | A | synonymous_variant | LOW | HG01346.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0228 | 1 | 382 | 0.0026 | 0 | c.156 others(4): Show |
p.Ala others(6): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 2601/8798 | 1563/4290 | 521/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124672422 | T | C | synonymous_variant | LOW | HG01975.hp1 HG02280.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0023a0001c0005t0002g0039a0001c0005t0002g0171others(2): Show | 8 | 382 | 0.0209 | 0 | c.855 others(3): Show |
p.Thr others(6): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 1893/8798 | 855/4290 | 285/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124710095 | T | C | synonymous_variant | LOW | HG01192.hp1 HG02055.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0006 | a0001c0006t0004a0001c0006t0011 | a0001c0006t0004g0026a0001c0006t0004g0056a0001c0006t0004g0057others(4): Show | 8 | 382 | 0.0209 | 0 | c.417 others(3): Show |
p.Leu others(6): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 2/5 | 1455/8798 | 417/4290 | 139/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124710239 | T | C | synonymous_variant | LOW | HG02148.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0119 | 1 | 382 | 0.0026 | 0 | c.273 others(3): Show |
p.Leu others(5): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 2/5 | 1311/8798 | 273/4290 | 91/1429 | chr4 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56244773 | G | A | synonymous_variant | LOW | HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0170a0001c0006t0003g0175 | 2 | 272 | 0.0074 | 0 | c.260 others(4): Show |
p.Phe others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 24/28 | 2716/8681 | 2601/3231 | 867/1076 | chr12 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56244782 | G | A | synonymous_variant | LOW | HG02886.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0149 | 1 | 272 | 0.0037 | 0 | c.259 others(4): Show |
p.Ala others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 24/28 | 2707/8681 | 2592/3231 | 864/1076 | chr12 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56245447 | A | T | synonymous_variant | LOW | HG00673.hp1 HG02027.hp1 NA19010.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0071a0001c0005t0001g0111a0001c0005t0001g0113 | 3 | 272 | 0.0110 | 0 | c.233 others(4): Show |
p.Leu others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 21/28 | 2449/8681 | 2334/3231 | 778/1076 | chr12 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56245573 | G | A | synonymous_variant | LOW | HG02129.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0075 | 1 | 272 | 0.0037 | 0 | c.220 others(4): Show |
p.Cys others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 21/28 | 2323/8681 | 2208/3231 | 736/1076 | chr12 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56248183 | C | T | synonymous_variant | LOW | HG01891.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0171 | 1 | 272 | 0.0037 | 0 | c.181 others(4): Show |
p.Glu others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 18/28 | 1933/8681 | 1818/3231 | 606/1076 | chr12 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56252288 | G | A | synonymous_variant | LOW | HG01167.hp1 HG01169.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0006 | a0001c0004t0001g0031a0001c0004t0006g0015a0001c0004t0006g0161others(2): Show | 8 | 272 | 0.0294 | 0 | c.139 others(4): Show |
p.Asn others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 14/28 | 1513/8681 | 1398/3231 | 466/1076 | chr12 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56254127 | G | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(198): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(127): Show | 201 | 272 | 0.7390 | 0 | c.846 others(3): Show |
p.Ser others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 8/28 | 961/8681 | 846/3231 | 282/1076 | chr12 | TogoVar | ||
ANKRD52_chr12_56232807_56263384 | 56255817 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(199): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(128): Show | 202 | 272 | 0.7427 | 0 | c.429 others(3): Show |
p.Ala others(6): Show |
ANKRD52 | ENSG00000139645.11 | transcript | ENST00000267116.8 | protein_coding | 5/28 | 544/8681 | 429/3231 | 143/1076 | chr12 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70979124 | C | T | synonymous_variant | LOW | HG00621.hp2 HG01175.hp2 HG01891.hp1 others(13): Show |
a0004a0012a0023 | a0004c0005a0004c0033a0012c0017others(1): Show | a0004c0005t0001a0004c0033t0001a0012c0017t0001others(1): Show | a0004c0005t0001g0006a0004c0033t0001g0006a0012c0017t0001g0026others(2): Show | 16 | 450 | 0.0356 | 0 | c.198 others(3): Show |
p.His others(5): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 2/6 | 214/1808 | 198/1593 | 66/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70979157 | G | A | synonymous_variant | LOW | HG04204.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0001 | 1 | 450 | 0.0022 | 0 | c.231 others(3): Show |
p.Pro others(5): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 2/6 | 247/1808 | 231/1593 | 77/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70979271 | G | A | synonymous_variant | LOW | HG02970.hp1 | a0004 | a0004c0033 | a0004c0033t0001 | a0004c0033t0001g0006 | 1 | 450 | 0.0022 | 0 | c.345 others(3): Show |
p.Ala others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 2/6 | 361/1808 | 345/1593 | 115/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70984658 | C | T | synonymous_variant | LOW | HG02886.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0042 | 1 | 450 | 0.0022 | 0 | c.951 others(3): Show |
p.His others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 967/1808 | 951/1593 | 317/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70984679 | C | T | synonymous_variant | LOW | HG02615.hp2 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0002 | 1 | 450 | 0.0022 | 0 | c.972 others(3): Show |
p.His others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 988/1808 | 972/1593 | 324/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70984685 | G | A | synonymous_variant | LOW | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(50): Show |
a0002a0012a0020 | a0002c0003a0012c0017a0020c0023 | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(2): Show | a0002c0003t0001g0003a0002c0003t0001g0007a0002c0003t0001g0008others(10): Show | 53 | 450 | 0.1178 | 0 | c.978 others(3): Show |
p.Leu others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 994/1808 | 978/1593 | 326/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70984859 | A | G | synonymous_variant | LOW | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(285): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0006a0001c0014others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(28): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0014others(71): Show | 288 | 450 | 0.6400 | 0 | c.115 others(4): Show |
p.Thr others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 1168/1808 | 1152/1593 | 384/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70985000 | C | T | synonymous_variant | LOW | HG00735.hp1 HG01074.hp1 HG01099.hp2 others(23): Show |
a0001a0003 | a0001c0014a0003c0004 | a0001c0014t0002a0003c0004t0002 | a0001c0014t0002g0004a0001c0014t0002g0021a0003c0004t0002g0004others(2): Show | 26 | 450 | 0.0578 | 0 | c.129 others(4): Show |
p.His others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 1309/1808 | 1293/1593 | 431/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70985051 | G | A | synonymous_variant | LOW | HG02735.hp2 HG03834.hp2 |
a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0001 | 2 | 450 | 0.0044 | 0 | c.134 others(4): Show |
p.Pro others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 1360/1808 | 1344/1593 | 448/530 | chr2 | TogoVar | ||
ANKRD53_chr2_70973630_70990499 | 70985250 | C | A | synonymous_variant | LOW | HG00735.hp2 HG01891.hp2 HG02451.hp1 others(16): Show |
a0001a0003a0023 | a0001c0006a0003c0008a0023c0032 | a0001c0006t0002a0003c0008t0002a0023c0032t0002 | a0001c0006t0002g0010a0001c0006t0002g0035a0001c0006t0002g0044others(3): Show | 19 | 450 | 0.0422 | 0 | c.154 others(4): Show |
p.Arg others(6): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 1559/1808 | 1543/1593 | 515/530 | chr2 | TogoVar | ||
ANKRD54_chr22_37825855_37849334 | 37832637 | C | T | splice_region_variant others(1): Show |
LOW | HG01358.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0107 | 1 | 384 | 0.0026 | 0 | c.828 others(3): Show |
p.Gln others(6): Show |
ANKRD54 | ENSG00000100124.15 | transcript | ENST00000215941.9 | protein_coding | 7/8 | 924/2087 | 828/903 | 276/300 | chr22 | TogoVar | ||
ANKRD54_chr22_37825855_37849334 | 37833054 | A | G | synonymous_variant | LOW | NA18968.hp1 NA19055.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114a0001c0003t0001g0137 | 2 | 384 | 0.0052 | 0 | c.624 others(3): Show |
p.Ala others(6): Show |
ANKRD54 | ENSG00000100124.15 | transcript | ENST00000215941.9 | protein_coding | 6/8 | 720/2087 | 624/903 | 208/300 | chr22 | TogoVar | ||
ANKRD54_chr22_37825855_37849334 | 37838573 | C | A | synonymous_variant | LOW | HG02155.hp1 NA18955.hp2 NA19065.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032a0001c0002t0001g0123a0001c0002t0001g0159others(1): Show | 5 | 384 | 0.0130 | 0 | c.402 others(3): Show |
p.Ala others(6): Show |
ANKRD54 | ENSG00000100124.15 | transcript | ENST00000215941.9 | protein_coding | 3/8 | 498/2087 | 402/903 | 134/300 | chr22 | TogoVar | ||
ANKRD54_chr22_37825855_37849334 | 37843984 | C | T | synonymous_variant | LOW | NA19065.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0048 | 1 | 384 | 0.0026 | 0 | c.255 others(3): Show |
p.Lys others(5): Show |
ANKRD54 | ENSG00000100124.15 | transcript | ENST00000215941.9 | protein_coding | 1/8 | 351/2087 | 255/903 | 85/300 | chr22 | TogoVar | ||
ANKRD55_chr5_56094680_56238330 | 56111125 | T | C | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(83): Show |
a0001a0002a0004others(1): Show | a0001c0014a0001c0016a0002c0002others(4): Show | a0001c0014t0010a0001c0016t0001a0002c0002t0001others(6): Show | a0001c0014t0010g0047a0001c0016t0001g0005a0002c0002t0001g0003others(83): Show | 86 | 308 | 0.2792 | 0 | c.162 others(4): Show |
p.Pro others(6): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 10/12 | 1746/2471 | 1623/1845 | 541/614 | chr5 | TogoVar | ||
ANKRD55_chr5_56094680_56238330 | 56116644 | C | T | synonymous_variant | LOW | HG00280.hp1 HG01243.hp1 HG01255.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0012a0001c0014others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(6): Show | a0001c0003t0001g0056a0001c0003t0001g0117a0001c0003t0001g0270others(21): Show | 24 | 308 | 0.0779 | 0 | c.936 others(3): Show |
p.Ala others(6): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 9/12 | 1059/2471 | 936/1845 | 312/614 | chr5 | TogoVar |