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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKFY1_chr17_4158821_4268979 | 4195453 | G | A | synonymous_variant | LOW | NA18612.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0141 | 1 | 300 | 0.0033 | 0 | c.112 others(4): Show |
p.Ser others(6): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 9/25 | 1160/7506 | 1122/3510 | 374/1169 | chr17 | TogoVar | ||
ANKFY1_chr17_4158821_4268979 | 4206427 | G | A | synonymous_variant | LOW | HG01168.hp2 HG01169.hp1 HG01192.hp2 others(41): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0003t0001a0001c0003t0009a0001c0003t0016others(12): Show | a0001c0003t0001g0144a0001c0003t0001g0152a0001c0003t0001g0193others(41): Show | 44 | 300 | 0.1467 | 0 | c.792 others(3): Show |
p.Leu others(6): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 7/25 | 830/7506 | 792/3510 | 264/1169 | chr17 | TogoVar | ||
ANKFY1_chr17_4158821_4268979 | 4235794 | G | A | synonymous_variant | LOW | HG03098.hp1 | a0002 | a0002c0011 | a0002c0011t0028 | a0002c0011t0028g0297 | 1 | 300 | 0.0033 | 0 | c.300 others(3): Show |
p.Ser others(6): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 3/25 | 338/7506 | 300/3510 | 100/1169 | chr17 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140449212 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0314 | 1 | 322 | 0.0031 | 0 | c.114 others(4): Show |
p.Gly others(6): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 7/34 | 1284/8195 | 1149/7629 | 383/2542 | chr5 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140487002 | C | G | synonymous_variant | LOW | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0153a0001c0006t0001g0154 | 2 | 322 | 0.0062 | 0 | c.218 others(4): Show |
p.Pro others(6): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/34 | 2322/8195 | 2187/7629 | 729/2542 | chr5 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140496971 | T | C | synonymous_variant | LOW | NA20905.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0189 | 1 | 322 | 0.0031 | 0 | c.269 others(4): Show |
p.Val others(6): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 15/34 | 2832/8195 | 2697/7629 | 899/2542 | chr5 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140504897 | G | A | synonymous_variant | LOW | HG02630.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0229 | 1 | 322 | 0.0031 | 0 | c.308 others(4): Show |
p.Ser others(7): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 16/34 | 3216/8195 | 3081/7629 | 1027/2542 | chr5 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140513392 | C | T | synonymous_variant | LOW | HG03490.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0016 | 1 | 322 | 0.0031 | 0 | c.423 others(4): Show |
p.Val others(7): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 24/34 | 4365/8195 | 4230/7629 | 1410/2542 | chr5 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140526354 | G | A | synonymous_variant | LOW | HG03195.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0321 | 1 | 322 | 0.0031 | 0 | c.485 others(4): Show |
p.Val others(7): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 26/34 | 4986/8195 | 4851/7629 | 1617/2542 | chr5 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140526363 | G | A | synonymous_variant | LOW | NA20905.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0070 | 1 | 322 | 0.0031 | 0 | c.486 others(4): Show |
p.Val others(7): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 26/34 | 4995/8195 | 4860/7629 | 1620/2542 | chr5 | TogoVar | ||
ANKHD1_chr5_140396833_140544849 | 140528934 | C | T | synonymous_variant | LOW | HG01928.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0054 | 1 | 322 | 0.0031 | 0 | c.598 others(4): Show |
p.Ser others(7): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 29/34 | 6123/8195 | 5988/7629 | 1996/2542 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14712907 | G | A | synonymous_variant | LOW | HG02572.hp1 HG03041.hp1 |
a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0033a0001c0005t0020g0142 | 2 | 232 | 0.0086 | 0 | c.133 others(4): Show |
p.Val others(6): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 11/12 | 1663/8207 | 1332/1479 | 444/492 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14741851 | G | A | synonymous_variant | LOW | HG02723.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0006 | 1 | 232 | 0.0043 | 0 | c.987 others(3): Show |
p.Phe others(6): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 8/12 | 1318/8207 | 987/1479 | 329/492 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14741875 | T | C | synonymous_variant | LOW | HG00639.hp2 HG00738.hp2 HG01243.hp1 others(28): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0002t0001g0004a0001c0002t0001g0107a0001c0002t0002g0183others(28): Show | 31 | 232 | 0.1336 | 0 | c.963 others(3): Show |
p.Ala others(6): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 8/12 | 1294/8207 | 963/1479 | 321/492 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14745939 | T | C | synonymous_variant | LOW | HG03540.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0215 | 1 | 232 | 0.0043 | 0 | c.846 others(3): Show |
p.Thr others(6): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 7/12 | 1177/8207 | 846/1479 | 282/492 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14758507 | G | A | synonymous_variant | LOW | HG02615.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0009a0001c0004t0010a0001c0004t0023others(2): Show | a0001c0004t0009g0050a0001c0004t0009g0051a0001c0004t0010g0093others(3): Show | 6 | 232 | 0.0259 | 0 | c.405 others(3): Show |
p.Leu others(6): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 3/12 | 736/8207 | 405/1479 | 135/492 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14768994 | G | A | synonymous_variant | LOW | HG00741.hp1 HG01081.hp1 HG01081.hp2 others(17): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(5): Show | a0001c0003t0001g0029a0001c0003t0001g0043a0001c0003t0001g0065others(17): Show | 20 | 232 | 0.0862 | 0 | c.294 others(3): Show |
p.Ala others(5): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 2/12 | 625/8207 | 294/1479 | 98/492 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14769030 | G | A | synonymous_variant | LOW | HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0009a0001c0010 | a0001c0009t0062a0001c0010t0052 | a0001c0009t0062g0208a0001c0010t0052g0154 | 2 | 232 | 0.0086 | 0 | c.258 others(3): Show |
p.Ala others(5): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 2/12 | 589/8207 | 258/1479 | 86/492 | chr5 | TogoVar | ||
ANKIB1_chr7_92240974_92406383 | 92345007 | A | G | synonymous_variant | LOW | HG01891.hp1 HG02109.hp2 HG03098.hp2 |
a0001 | a0001c0009 | a0001c0009t0001a0001c0009t0011 | a0001c0009t0001g0048a0001c0009t0011g0131a0001c0009t0011g0132 | 3 | 314 | 0.0096 | 0 | c.102 others(4): Show |
p.Val others(6): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 7/20 | 1662/6340 | 1026/3270 | 342/1089 | chr7 | TogoVar | ||
ANKIB1_chr7_92240974_92406383 | 92391201 | G | A | synonymous_variant | LOW | HG02083.hp2 NA18942.hp2 NA18954.hp2 others(1): Show |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0056a0002c0007t0001g0057a0002c0007t0001g0082others(1): Show | 4 | 314 | 0.0127 | 0 | c.208 others(4): Show |
p.Gln others(6): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 16/20 | 2724/6340 | 2088/3270 | 696/1089 | chr7 | TogoVar | ||
ANKIB1_chr7_92240974_92406383 | 92397766 | C | T | synonymous_variant | LOW | HG00639.hp2 HG01884.hp1 HG02615.hp1 others(15): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0006a0001c0004t0012 | a0001c0004t0005g0014a0001c0004t0005g0019a0001c0004t0005g0020others(15): Show | 18 | 314 | 0.0573 | 0 | c.243 others(4): Show |
p.Ser others(6): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 19/20 | 3075/6340 | 2439/3270 | 813/1089 | chr7 | TogoVar | ||
ANKIB1_chr7_92240974_92406383 | 92398223 | C | G | synonymous_variant | LOW | HG00408.hp2 HG00423.hp2 HG00558.hp2 others(73): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0002a0001c0003t0013a0001c0003t0021others(4): Show | a0001c0003t0002g0042a0001c0003t0002g0162a0001c0003t0002g0163others(73): Show | 76 | 314 | 0.2420 | 0 | c.254 others(4): Show |
p.Ser others(6): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 20/20 | 3180/6340 | 2544/3270 | 848/1089 | chr7 | TogoVar | ||
ANKIB1_chr7_92240974_92406383 | 92398592 | C | A | synonymous_variant | LOW | HG00544.hp2 HG01358.hp1 HG01928.hp2 others(13): Show |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0007 | a0001c0005t0003g0182a0001c0005t0003g0183a0001c0005t0003g0184others(13): Show | 16 | 314 | 0.0510 | 0 | c.291 others(4): Show |
p.Gly others(6): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 20/20 | 3549/6340 | 2913/3270 | 971/1089 | chr7 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113388019 | G | C | synonymous_variant | LOW | NA18980.hp1 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0001 | 1 | 400 | 0.0025 | 0 | c.135 others(3): Show |
p.Arg others(5): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 1/8 | 241/2553 | 135/2298 | 45/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113393550 | T | C | synonymous_variant | LOW | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(227): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0002c0012others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(66): Show | 230 | 400 | 0.5750 | 0 | c.255 others(3): Show |
p.Ser others(5): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 2/8 | 361/2553 | 255/2298 | 85/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113393712 | G | A | synonymous_variant | LOW | NA19000.hp1 | a0003 | a0003c0025 | a0003c0025t0001 | a0003c0025t0001g0050 | 1 | 400 | 0.0025 | 0 | c.417 others(3): Show |
p.Pro others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 2/8 | 523/2553 | 417/2298 | 139/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113393745 | C | T | synonymous_variant | LOW | HG00673.hp1 HG01358.hp2 NA18956.hp2 others(2): Show |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0006 | 5 | 400 | 0.0125 | 0 | c.450 others(3): Show |
p.Asn others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 2/8 | 556/2553 | 450/2298 | 150/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113393748 | A | C | synonymous_variant | LOW | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(269): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0010a0002c0012others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 272 | 400 | 0.6800 | 0 | c.453 others(3): Show |
p.Ile others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 2/8 | 559/2553 | 453/2298 | 151/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113394994 | G | A | synonymous_variant | LOW | HG02970.hp2 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0004 | 1 | 400 | 0.0025 | 0 | c.546 others(3): Show |
p.Ser others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 3/8 | 652/2553 | 546/2298 | 182/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113396098 | G | T | synonymous_variant | LOW | HG00408.hp1 | a0028 | a0028c0029 | a0028c0029t0001 | a0028c0029t0001g0057 | 1 | 400 | 0.0025 | 0 | c.714 others(3): Show |
p.Val others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 5/8 | 820/2553 | 714/2298 | 238/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113399130 | C | T | synonymous_variant | LOW | HG01243.hp1 HG02258.hp1 HG02622.hp2 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0007 | 9 | 400 | 0.0225 | 0 | c.116 others(4): Show |
p.Asp others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 1267/2553 | 1161/2298 | 387/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113399157 | C | T | synonymous_variant | LOW | HG03688.hp2 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0001 | 1 | 400 | 0.0025 | 0 | c.118 others(4): Show |
p.Tyr others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 1294/2553 | 1188/2298 | 396/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113399622 | G | A | synonymous_variant | LOW | HG02717.hp1 HG02922.hp2 |
a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0004 | 2 | 400 | 0.0050 | 0 | c.165 others(4): Show |
p.Ala others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 1759/2553 | 1653/2298 | 551/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113399646 | C | T | synonymous_variant | LOW | HG01891.hp2 NA20300.hp1 |
a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0040 | 2 | 400 | 0.0050 | 0 | c.167 others(4): Show |
p.Ser others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 1783/2553 | 1677/2298 | 559/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113399652 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(325): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0010a0002c0002others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 328 | 400 | 0.8200 | 0 | c.168 others(4): Show |
p.Tyr others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 1789/2553 | 1683/2298 | 561/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113400006 | A | G | synonymous_variant | LOW | HG01243.hp1 HG01516.hp2 HG01517.hp2 others(29): Show |
a0004a0005a0012others(5): Show | a0004c0005a0005c0006a0012c0015others(5): Show | a0004c0005t0001a0005c0006t0001a0012c0015t0001others(5): Show | a0004c0005t0001g0007a0005c0006t0001g0013a0005c0006t0001g0019others(10): Show | 32 | 400 | 0.0800 | 0 | c.203 others(4): Show |
p.Leu others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 2143/2553 | 2037/2298 | 679/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113400027 | C | T | synonymous_variant | LOW | HG02572.hp2 HG02896.hp1 HG03139.hp2 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0029a0013c0017t0001g0078 | 3 | 400 | 0.0075 | 0 | c.205 others(4): Show |
p.His others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 2164/2553 | 2058/2298 | 686/765 | chr11 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17282168 | C | T | synonymous_variant | LOW | HG01928.hp1 HG02647.hp1 HG02809.hp2 others(10): Show |
a0002a0026 | a0002c0005a0026c0020 | a0002c0005t0005a0002c0005t0011a0002c0005t0013others(3): Show | a0002c0005t0005g0016a0002c0005t0011g0002a0002c0005t0011g0003others(5): Show | 13 | 406 | 0.0320 | 0 | c.174 others(3): Show |
p.Cys others(5): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 2/9 | 194/2962 | 174/1848 | 58/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17282192 | C | G | synonymous_variant | LOW | homoSapiens_chm13v2.hp1 | a0001 | a0001c0033 | a0001c0033t0026 | a0001c0033t0026g0001 | 1 | 406 | 0.0025 | 0 | c.198 others(3): Show |
p.Gly others(5): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 2/9 | 218/2962 | 198/1848 | 66/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17282695 | G | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0005a0003c0003others(19): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(53): Show | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0002g0018others(76): Show | 215 | 406 | 0.5296 | 0 | c.255 others(3): Show |
p.Ala others(5): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 3/9 | 275/2962 | 255/1848 | 85/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17282929 | G | A | synonymous_variant | LOW | NA19000.hp1 | a0001 | a0001c0022 | a0001c0022t0006 | a0001c0022t0006g0001 | 1 | 406 | 0.0025 | 0 | c.387 others(3): Show |
p.Gln others(6): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 4/9 | 407/2962 | 387/1848 | 129/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17283256 | G | A | synonymous_variant | LOW | HG02698.hp1 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0004 | 1 | 406 | 0.0025 | 0 | c.492 others(3): Show |
p.Thr others(6): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 5/9 | 512/2962 | 492/1848 | 164/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17284246 | C | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0005a0003c0003others(19): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(53): Show | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0002g0018others(76): Show | 215 | 406 | 0.5296 | 0 | c.135 others(4): Show |
p.Thr others(6): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 6/9 | 1376/2962 | 1356/1848 | 452/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17285524 | G | A | synonymous_variant | LOW | HG01109.hp1 HG02258.hp2 HG02451.hp2 others(3): Show |
a0006a0019 | a0006c0008a0019c0031 | a0006c0008t0025a0006c0008t0034a0006c0008t0035others(1): Show | a0006c0008t0025g0013a0006c0008t0025g0019a0006c0008t0034g0013others(2): Show | 6 | 406 | 0.0148 | 0 | c.147 others(4): Show |
p.Gly others(6): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 7/9 | 1490/2962 | 1470/1848 | 490/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17285581 | A | G | synonymous_variant | LOW | NA18945.hp1 NA18962.hp2 NA18993.hp1 others(1): Show |
a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0004 | 4 | 406 | 0.0099 | 0 | c.152 others(4): Show |
p.Ser others(6): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 7/9 | 1547/2962 | 1527/1848 | 509/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17285740 | T | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0005a0003c0003others(19): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(53): Show | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0002g0018others(76): Show | 215 | 406 | 0.5296 | 0 | c.159 others(4): Show |
p.Gly others(6): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 8/9 | 1616/2962 | 1596/1848 | 532/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17286435 | C | T | synonymous_variant | LOW | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(24): Show |
a0003a0018a0021 | a0003c0003a0018c0032a0021c0028 | a0003c0003t0004a0003c0003t0045a0003c0003t0046others(2): Show | a0003c0003t0004g0005a0003c0003t0004g0014a0003c0003t0004g0022others(5): Show | 27 | 406 | 0.0665 | 0 | c.173 others(4): Show |
p.Gly others(6): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 9/9 | 1751/2962 | 1731/1848 | 577/615 | chr19 | TogoVar | ||
ANKLE2_chr12_132720503_132766832 | 132727428 | C | G | synonymous_variant | LOW | HG02148.hp1 | a0016 | a0016c0024 | a0016c0024t0001 | a0016c0024t0001g0042 | 1 | 350 | 0.0029 | 0 | c.263 others(4): Show |
p.Ala others(6): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 13/13 | 2665/4590 | 2631/2817 | 877/938 | chr12 | TogoVar | ||
ANKLE2_chr12_132720503_132766832 | 132730176 | G | A | synonymous_variant | LOW | HG02145.hp2 | a0003 | a0003c0023 | a0003c0023t0001 | a0003c0023t0001g0321 | 1 | 350 | 0.0029 | 0 | c.198 others(4): Show |
p.Ser others(6): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/13 | 2020/4590 | 1986/2817 | 662/938 | chr12 | TogoVar | ||
ANKLE2_chr12_132720503_132766832 | 132730194 | A | G | synonymous_variant | LOW | HG01109.hp1 HG01243.hp2 HG02630.hp2 others(9): Show |
a0001a0003a0009 | a0001c0010a0001c0011a0003c0007others(1): Show | a0001c0010t0002a0001c0011t0002a0003c0007t0002others(1): Show | a0001c0010t0002g0192a0001c0010t0002g0193a0001c0010t0002g0275others(8): Show | 12 | 350 | 0.0343 | 0 | c.196 others(4): Show |
p.Asn others(6): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/13 | 2002/4590 | 1968/2817 | 656/938 | chr12 | TogoVar |