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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2C2_chr16_84363538_84469187 | 84459279 | C | T | synonymous_variant | LOW | HG02809.hp1 NA18952.hp2 |
a0001a0002 | a0001c0068a0002c0052 | a0001c0068t0004a0002c0052t0002 | a0001c0068t0004g0016a0002c0052t0002g0413 | 2 | 432 | 0.0046 | 0 | c.222 others(4): Show |
p.Ser others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 23/27 | 2304/3374 | 2226/2841 | 742/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84459283 | C | T | synonymous_variant | LOW | NA18961.hp2 | a0001 | a0001c0044 | a0001c0044t0002 | a0001c0044t0002g0363 | 1 | 432 | 0.0023 | 0 | c.223 others(4): Show |
p.Leu others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 23/27 | 2308/3374 | 2230/2841 | 744/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84459285 | G | A | synonymous_variant | LOW | HG03540.hp2 | a0002 | a0002c0049 | a0002c0049t0001 | a0002c0049t0001g0385 | 1 | 432 | 0.0023 | 0 | c.223 others(4): Show |
p.Leu others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 23/27 | 2310/3374 | 2232/2841 | 744/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84459372 | G | T | synonymous_variant | LOW | HG02647.hp1 | a0002 | a0002c0074 | a0002c0074t0002 | a0002c0074t0002g0063 | 1 | 432 | 0.0023 | 0 | c.231 others(4): Show |
p.Gly others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 23/27 | 2397/3374 | 2319/2841 | 773/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84459378 | G | A | synonymous_variant | LOW | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(3): Show |
a0001a0002 | a0001c0018a0001c0029a0002c0050 | a0001c0018t0002a0001c0029t0002a0002c0050t0002 | a0001c0018t0002g0006a0001c0018t0002g0012a0001c0018t0002g0046others(3): Show | 6 | 432 | 0.0139 | 0 | c.232 others(4): Show |
p.Pro others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 23/27 | 2403/3374 | 2325/2841 | 775/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84460669 | C | T | synonymous_variant | LOW | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(223): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0078a0001c0001t0001g0313a0001c0001t0001g0329others(223): Show | 226 | 432 | 0.5232 | 0 | c.234 others(4): Show |
p.Pro others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 24/27 | 2427/3374 | 2349/2841 | 783/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84461749 | G | A | synonymous_variant | LOW | NA18992.hp2 | a0001 | a0001c0066 | a0001c0066t0002 | a0001c0066t0002g0175 | 1 | 432 | 0.0023 | 0 | c.251 others(4): Show |
p.Thr others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 25/27 | 2595/3374 | 2517/2841 | 839/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84461791 | C | T | synonymous_variant | LOW | HG03486.hp2 NA19083.hp2 |
a0001 | a0001c0042a0001c0043 | a0001c0042t0004a0001c0043t0002 | a0001c0042t0004g0233a0001c0043t0002g0350 | 2 | 432 | 0.0046 | 0 | c.255 others(4): Show |
p.Asn others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 25/27 | 2637/3374 | 2559/2841 | 853/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84462089 | G | A | synonymous_variant | LOW | HG02809.hp1 HG02976.hp1 HG03195.hp2 others(3): Show |
a0001a0010 | a0001c0041a0001c0042a0001c0067others(3): Show | a0001c0041t0004a0001c0042t0004a0001c0067t0004others(3): Show | a0001c0041t0004g0209a0001c0042t0004g0233a0001c0067t0004g0244others(3): Show | 6 | 432 | 0.0139 | 0 | c.268 others(4): Show |
p.Pro others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 26/27 | 2760/3374 | 2682/2841 | 894/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84462110 | G | C | synonymous_variant | LOW | HG03486.hp2 | a0001 | a0001c0042 | a0001c0042t0004 | a0001c0042t0004g0233 | 1 | 432 | 0.0023 | 0 | c.270 others(4): Show |
p.Thr others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 26/27 | 2781/3374 | 2703/2841 | 901/946 | chr16 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35551057 | C | T | synonymous_variant | LOW | NA18979.hp1 NA19068.hp1 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0044 | 2 | 426 | 0.0047 | 0 | c.294 others(4): Show |
p.Leu others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 20/22 | 2969/3721 | 2940/3108 | 980/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35553094 | C | G | synonymous_variant | LOW | HG00438.hp2 HG00558.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0007a0001c0024 | a0001c0007t0001a0001c0024t0001 | a0001c0007t0001g0014a0001c0024t0001g0082 | 6 | 426 | 0.0141 | 0 | c.269 others(4): Show |
p.Arg others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 18/22 | 2723/3721 | 2694/3108 | 898/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35554973 | G | A | synonymous_variant | LOW | HG02145.hp2 NA18522.hp2 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0146a0001c0013t0001g0151 | 2 | 426 | 0.0047 | 0 | c.243 others(4): Show |
p.Pro others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 16/22 | 2459/3721 | 2430/3108 | 810/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35554979 | G | A | synonymous_variant | LOW | NA18984.hp1 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0162 | 1 | 426 | 0.0024 | 0 | c.242 others(4): Show |
p.Ser others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 16/22 | 2453/3721 | 2424/3108 | 808/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35555506 | G | A | synonymous_variant | LOW | HG02083.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0131 | 1 | 426 | 0.0024 | 0 | c.209 others(4): Show |
p.Pro others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 14/22 | 2120/3721 | 2091/3108 | 697/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35557030 | T | C | synonymous_variant | LOW | HG02257.hp2 HG02559.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0009a0001c0032 | a0001c0009t0001a0001c0032t0001 | a0001c0009t0001g0089a0001c0009t0001g0094a0001c0009t0001g0170others(1): Show | 4 | 426 | 0.0094 | 0 | c.175 others(4): Show |
p.Val others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 12/22 | 1781/3721 | 1752/3108 | 584/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35557839 | G | A | synonymous_variant | LOW | NA19075.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0121 | 1 | 426 | 0.0024 | 0 | c.150 others(4): Show |
p.Ile others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 11/22 | 1538/3721 | 1509/3108 | 503/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35557839 | G | T | synonymous_variant | LOW | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(108): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0008a0001c0014others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0008t0001others(9): Show | a0001c0003t0001g0002a0001c0003t0001g0010a0001c0003t0001g0015others(44): Show | 111 | 426 | 0.2606 | 0 | c.150 others(4): Show |
p.Ile others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 11/22 | 1538/3721 | 1509/3108 | 503/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35559811 | A | G | synonymous_variant | LOW | NA19002.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0126 | 1 | 426 | 0.0024 | 0 | c.105 others(4): Show |
p.Thr others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 7/22 | 1079/3721 | 1050/3108 | 350/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35560598 | G | T | synonymous_variant | LOW | NA19067.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0072 | 1 | 426 | 0.0024 | 0 | c.552 others(3): Show |
p.Arg others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 6/22 | 581/3721 | 552/3108 | 184/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35560918 | G | A | synonymous_variant | LOW | HG00738.hp2 HG01884.hp1 HG01891.hp1 others(20): Show |
a0001 | a0001c0004a0001c0008a0001c0015 | a0001c0004t0001a0001c0004t0003a0001c0008t0001others(1): Show | a0001c0004t0001g0012a0001c0004t0001g0028a0001c0004t0001g0041others(9): Show | 23 | 426 | 0.0540 | 0 | c.435 others(3): Show |
p.Ile others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 5/22 | 464/3721 | 435/3108 | 145/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35562546 | G | A | synonymous_variant | LOW | HG00438.hp2 HG00621.hp1 HG00738.hp2 others(44): Show |
a0001a0003 | a0001c0004a0001c0005a0001c0007others(5): Show | a0001c0004t0001a0001c0004t0003a0001c0005t0001others(6): Show | a0001c0004t0001g0012a0001c0004t0001g0028a0001c0004t0001g0041others(25): Show | 47 | 426 | 0.1103 | 0 | c.309 others(3): Show |
p.Phe others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 4/22 | 338/3721 | 309/3108 | 103/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35562588 | G | A | synonymous_variant | LOW | NA18970.hp2 NA19010.hp2 |
a0002 | a0002c0033a0002c0034 | a0002c0033t0001a0002c0034t0001 | a0002c0033t0001g0185a0002c0034t0001g0184 | 2 | 426 | 0.0047 | 0 | c.267 others(3): Show |
p.Asn others(5): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 4/22 | 296/3721 | 267/3108 | 89/1035 | chr19 | TogoVar | ||
ATP4B_chr13_113643804_113663198 | 113649449 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(96): Show |
a0001 | a0001c0003a0001c0004a0001c0010others(2): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0008others(3): Show | a0001c0003t0001g0006a0001c0003t0001g0009a0001c0003t0001g0012others(44): Show | 99 | 456 | 0.2171 | 0 | c.801 others(3): Show |
p.Ala others(6): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 7/7 | 855/1500 | 801/876 | 267/291 | chr13 | TogoVar | ||
ATP4B_chr13_113643804_113663198 | 113649482 | G | A | synonymous_variant | LOW | NA19030.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0160 | 1 | 456 | 0.0022 | 0 | c.768 others(3): Show |
p.Asn others(6): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 7/7 | 822/1500 | 768/876 | 256/291 | chr13 | TogoVar | ||
ATP4B_chr13_113643804_113663198 | 113652999 | G | A | synonymous_variant | LOW | NA18999.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0144 | 1 | 456 | 0.0022 | 0 | c.429 others(3): Show |
p.Arg others(6): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 4/7 | 483/1500 | 429/876 | 143/291 | chr13 | TogoVar | ||
ATP4B_chr13_113643804_113663198 | 113654851 | C | T | synonymous_variant | LOW | HG03017.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0112 | 1 | 456 | 0.0022 | 0 | c.204 others(3): Show |
p.Pro others(5): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 2/7 | 258/1500 | 204/876 | 68/291 | chr13 | TogoVar | ||
ATP4B_chr13_113643804_113663198 | 113654911 | G | A | synonymous_variant | LOW | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(243): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(106): Show | 246 | 456 | 0.5395 | 0 | c.144 others(3): Show |
p.Tyr others(5): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 2/7 | 198/1500 | 144/876 | 48/291 | chr13 | TogoVar | ||
ATP4B_chr13_113643804_113663198 | 113658091 | C | T | synonymous_variant | LOW | HG02258.hp1 HG02280.hp1 HG02280.hp2 others(3): Show |
a0001a0002 | a0001c0008a0001c0010a0002c0011 | a0001c0008t0001a0001c0008t0002a0001c0010t0001others(1): Show | a0001c0008t0001g0054a0001c0008t0001g0055a0001c0008t0002g0028others(2): Show | 6 | 456 | 0.0132 | 0 | c.54G others(2): Show |
p.Gln others(5): Show |
ATP4B | ENSG00000186009.5 | transcript | ENST00000335288.5 | protein_coding | 1/7 | 108/1500 | 54/876 | 18/291 | chr13 | TogoVar | ||
ATP5F1A_chr18_46075248_46103296 | 46086228 | A | G | synonymous_variant | LOW | HG03831.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0231 | 1 | 390 | 0.0026 | 0 | c.131 others(4): Show |
p.Ala others(6): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 10/12 | 1379/5761 | 1314/1662 | 438/553 | chr18 | TogoVar | ||
ATP5F1A_chr18_46075248_46103296 | 46089652 | T | C | synonymous_variant | LOW | HG01943.hp2 HG02004.hp2 HG02129.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0032a0001c0002t0119others(1): Show | a0001c0002t0010g0041a0001c0002t0010g0042a0001c0002t0010g0203others(5): Show | 10 | 390 | 0.0256 | 0 | c.564 others(3): Show |
p.Pro others(6): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 5/12 | 629/5761 | 564/1662 | 188/553 | chr18 | TogoVar | ||
ATP5F1A_chr18_46075248_46103296 | 46098187 | A | T | synonymous_variant | LOW | NA18747.hp2 NA18984.hp2 NA19084.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0022a0001c0004t0002g0051 | 3 | 390 | 0.0077 | 0 | c.45T others(2): Show |
p.Pro others(5): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/12 | 110/5761 | 45/1662 | 15/553 | chr18 | TogoVar | ||
ATP5F1C_chr10_7783177_7812801 | 7802804 | A | G | synonymous_variant | LOW | HG02280.hp2 HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032a0001c0002t0001g0121 | 3 | 420 | 0.0071 | 0 | c.840 others(3): Show |
p.Gln others(6): Show |
ATP5F1C | ENSG00000165629.20 | transcript | ENST00000356708.12 | protein_coding | 8/10 | 871/1101 | 840/897 | 280/298 | chr10 | TogoVar | ||
ATP5F1D_chr19_1236751_1249825 | 1242575 | G | C | synonymous_variant | LOW | HG02129.hp2 NA18954.hp1 NA18961.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 4 | 412 | 0.0097 | 0 | c.261 others(3): Show |
p.Val others(5): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 2/4 | 361/995 | 261/507 | 87/168 | chr19 | TogoVar | ||
ATP5F1D_chr19_1236751_1249825 | 1244113 | C | T | synonymous_variant | LOW | HG03831.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0003 | 1 | 412 | 0.0024 | 0 | c.312 others(3): Show |
p.Ile others(6): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 3/4 | 412/995 | 312/507 | 104/168 | chr19 | TogoVar | ||
ATP5F1D_chr19_1236751_1249825 | 1244377 | G | A | synonymous_variant | LOW | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 412 | 0.0024 | 0 | c.447 others(3): Show |
p.Thr others(6): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 4/4 | 547/995 | 447/507 | 149/168 | chr19 | TogoVar | ||
ATP5MC2_chr12_53660170_53681083 | 53665371 | C | T | synonymous_variant | LOW | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0126 | 1 | 418 | 0.0024 | 0 | c.369 others(3): Show |
p.Ser others(6): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 5/5 | 431/632 | 369/426 | 123/141 | chr12 | TogoVar | ||
ATP5MC2_chr12_53660170_53681083 | 53672594 | A | G | synonymous_variant | LOW | HG01891.hp2 HG03195.hp1 NA18522.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026a0001c0002t0001g0044a0001c0002t0001g0102others(1): Show | 7 | 418 | 0.0168 | 0 | c.21T others(2): Show |
p.Phe others(4): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/5 | 83/632 | 21/426 | 7/141 | chr12 | TogoVar | ||
ATP5MC3_chr2_175171258_175186710 | 175178369 | A | G | synonymous_variant | LOW | HG01256.hp1 HG01258.hp1 HG01496.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0024 | a0001c0002t0001g0009a0001c0002t0001g0037a0001c0002t0024g0038 | 8 | 390 | 0.0205 | 0 | c.348 others(3): Show |
p.Tyr others(6): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 5/5 | 476/2587 | 348/429 | 116/142 | chr2 | TogoVar | ||
ATP5MC3_chr2_175171258_175186710 | 175180149 | T | C | synonymous_variant | LOW | HG02683.hp1 HG02738.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0012 | 4 | 390 | 0.0103 | 0 | c.69A others(2): Show |
p.Arg others(5): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 3/5 | 197/2587 | 69/429 | 23/142 | chr2 | TogoVar | ||
ATP5MC3_chr2_175171258_175186710 | 175180161 | T | C | synonymous_variant | LOW | HG02622.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0029 | 1 | 390 | 0.0026 | 0 | c.57A others(2): Show |
p.Arg others(5): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 3/5 | 185/2587 | 57/429 | 19/142 | chr2 | TogoVar | ||
ATP5MF_chr7_99453195_99471167 | 99466115 | G | T | synonymous_variant | LOW | HG00438.hp2 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 2 | 346 | 0.0058 | 0 | c.27C others(2): Show |
p.Ala others(4): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 1/4 | 53/443 | 27/285 | 9/94 | chr7 | TogoVar | ||
ATP5MGL_chr22_42634803_42645601 | 42640163 | G | A | synonymous_variant | LOW | HG03831.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0000 | 1 | 374 | 0.0027 | 0 | c.112 others(3): Show |
p.Leu others(5): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 439/799 | 112/303 | 38/100 | chr22 | TogoVar | ||
ATP5MGL_chr22_42634803_42645601 | 42640239 | G | A | synonymous_variant | LOW | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(122): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008a0001c0002t0011others(5): Show | a0001c0002t0001g0000a0001c0002t0008g0000a0001c0002t0011g0000others(5): Show | 125 | 374 | 0.3342 | 0 | c.36C others(2): Show |
p.Thr others(5): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 363/799 | 36/303 | 12/100 | chr22 | TogoVar | ||
ATP5PB_chr1_111444464_111467773 | 111456099 | C | T | synonymous_variant | LOW | HG02145.hp2 HG02257.hp2 HG02723.hp1 others(10): Show |
a0001a0004 | a0001c0002a0004c0009 | a0001c0002t0004a0004c0009t0004 | a0001c0002t0004g0010a0001c0002t0004g0016a0001c0002t0004g0051others(3): Show | 13 | 434 | 0.0300 | 0 | c.237 others(3): Show |
p.Leu others(5): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 4/7 | 315/2628 | 237/771 | 79/256 | chr1 | TogoVar | ||
ATP5PB_chr1_111444464_111467773 | 111456144 | G | T | synonymous_variant | LOW | HG01069.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0001 | 1 | 434 | 0.0023 | 0 | c.282 others(3): Show |
p.Val others(5): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 4/7 | 360/2628 | 282/771 | 94/256 | chr1 | TogoVar | ||
ATP5PB_chr1_111444464_111467773 | 111459522 | A | G | synonymous_variant | LOW | HG03017.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0002 | 1 | 434 | 0.0023 | 0 | c.579 others(3): Show |
p.Val others(6): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 6/7 | 657/2628 | 579/771 | 193/256 | chr1 | TogoVar | ||
ATP5PB_chr1_111444464_111467773 | 111459585 | C | T | synonymous_variant | LOW | HG02257.hp1 HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0028 | 3 | 434 | 0.0069 | 0 | c.642 others(3): Show |
p.His others(6): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 6/7 | 720/2628 | 642/771 | 214/256 | chr1 | TogoVar | ||
ATP5PD_chr17_75033863_75051969 | 75039012 | A | G | synonymous_variant | LOW | HG01109.hp1 HG01891.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019a0001c0002t0002g0037a0001c0002t0002g0045others(4): Show | 12 | 428 | 0.0280 | 0 | c.406 others(3): Show |
p.Leu others(6): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 6/6 | 460/609 | 406/486 | 136/161 | chr17 | TogoVar | ||
ATP5PO_chr21_33898453_33920804 | 33903631 | C | T | synonymous_variant | LOW | HG02602.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0134 | 1 | 436 | 0.0023 | 0 | c.537 others(3): Show |
p.Pro others(6): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 7/7 | 578/756 | 537/642 | 179/213 | chr21 | TogoVar |