| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP5PO_chr21_33898453_33920804 | 33909089 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(106): Show | 298 | 436 | 0.6835 | 0 | c.321 others(3): Show |
p.Asn others(6): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 4/7 | 362/756 | 321/642 | 107/213 | chr21 | TogoVar | ||
| ATP5PO_chr21_33898453_33920804 | 33912379 | A | G | synonymous_variant | LOW | HG01255.hp2 HG03704.hp2 NA20805.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035a0001c0004t0001g0075 | 3 | 436 | 0.0069 | 0 | c.108 others(3): Show |
p.Gly others(5): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/7 | 149/756 | 108/642 | 36/213 | chr21 | TogoVar | ||
| ATP5PO_chr21_33898453_33920804 | 33915740 | C | G | synonymous_variant | LOW | HG00735.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0055 | 1 | 436 | 0.0023 | 0 | c.24G others(2): Show |
p.Gly others(4): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 1/7 | 65/756 | 24/642 | 8/213 | chr21 | TogoVar | ||
| ATP6AP1_chrX_154423677_154441516 | 154428737 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00438.hp2 HG00735.hp1 others(39): Show |
a0000a0001a0006 | a0000c0007a0001c0002a0006c0006 | a0000c0007t0003a0001c0002t0003a0001c0002t0004others(3): Show | a0000c0007t0003g0006a0001c0002t0003g0005a0001c0002t0003g0006others(10): Show | 42 | 302 | 0.1391 | 0 | c.45G others(2): Show |
p.Arg others(5): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 1/10 | 61/2054 | 45/1413 | 15/470 | chrX | TogoVar | ||
| ATP6AP1_chrX_154423677_154441516 | 154435142 | C | T | synonymous_variant | LOW | HG01109.hp1 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0020 | 1 | 302 | 0.0033 | 0 | c.927 others(3): Show |
p.Leu others(6): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 8/10 | 943/2054 | 927/1413 | 309/470 | chrX | TogoVar | ||
| ATP6AP2_chrX_40575970_40611848 | 40591350 | G | A | synonymous_variant | LOW | HG01081.hp2 HG02145.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0003a0001c0006t0003 | a0001c0003t0003g0023a0001c0003t0003g0024a0001c0003t0003g0080others(4): Show | 9 | 299 | 0.0301 | 0 | c.285 others(3): Show |
p.Ser others(5): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 3/9 | 381/2242 | 285/1053 | 95/350 | chrX | TogoVar | ||
| ATP6AP2_chrX_40575970_40611848 | 40600788 | T | C | synonymous_variant | LOW | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(58): Show |
a0001a0003a0005others(1): Show | a0001c0002a0003c0004a0005c0008others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(4): Show | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0015others(43): Show | 61 | 299 | 0.2040 | 0 | c.765 others(3): Show |
p.Tyr others(6): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/9 | 861/2242 | 765/1053 | 255/350 | chrX | TogoVar | ||
| ATP6AP2_chrX_40575970_40611848 | 40605752 | T | C | synonymous_variant | LOW | HG02723.hp2 HG02896.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0078a0001c0006t0003g0079 | 2 | 299 | 0.0067 | 0 | c.105 others(4): Show |
p.Asp others(6): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 9/9 | 1146/2242 | 1050/1053 | 350/350 | chrX | TogoVar | ||
| ATP6V0A1_chr17_42453878_42527579 | 42480711 | C | T | synonymous_variant | LOW | HG00323.hp2 HG00642.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139a0001c0002t0001g0140a0001c0002t0001g0141others(1): Show | 4 | 320 | 0.0125 | 0 | c.678 others(3): Show |
p.Gly others(6): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 8/22 | 811/4106 | 678/2514 | 226/837 | chr17 | TogoVar | ||
| ATP6V0A1_chr17_42453878_42527579 | 42483101 | A | G | synonymous_variant | LOW | HG03209.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0191 | 1 | 320 | 0.0031 | 0 | c.780 others(3): Show |
p.Gly others(6): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/22 | 913/4106 | 780/2514 | 260/837 | chr17 | TogoVar | ||
| ATP6V0A1_chr17_42453878_42527579 | 42498953 | G | A | synonymous_variant | LOW | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 320 | 0.0031 | 0 | c.159 others(4): Show |
p.Thr others(6): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 15/22 | 1723/4106 | 1590/2514 | 530/837 | chr17 | TogoVar | ||
| ATP6V0A1_chr17_42453878_42527579 | 42514431 | G | A | synonymous_variant | LOW | HG00733.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0010 | 1 | 320 | 0.0031 | 0 | c.239 others(4): Show |
p.Ser others(6): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 21/22 | 2524/4106 | 2391/2514 | 797/837 | chr17 | TogoVar | ||
| ATP6V0A2_chr12_123707353_123766755 | 123724785 | T | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(144): Show | 165 | 222 | 0.7432 | 0 | c.426 others(3): Show |
p.Asn others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 4/20 | 639/6507 | 426/2571 | 142/856 | chr12 | TogoVar | ||
| ATP6V0A2_chr12_123707353_123766755 | 123726235 | T | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(144): Show | 165 | 222 | 0.7432 | 0 | c.471 others(3): Show |
p.Ser others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 5/20 | 684/6507 | 471/2571 | 157/856 | chr12 | TogoVar | ||
| ATP6V0A2_chr12_123707353_123766755 | 123735576 | G | A | synonymous_variant | LOW | HG01099.hp2 HG02145.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0012a0001c0006t0011a0001c0006t0038 | a0001c0005t0012g0118a0001c0005t0012g0119a0001c0005t0012g0120others(3): Show | 6 | 222 | 0.0270 | 0 | c.777 others(3): Show |
p.Arg others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 8/20 | 990/6507 | 777/2571 | 259/856 | chr12 | TogoVar | ||
| ATP6V0A2_chr12_123707353_123766755 | 123744882 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(178): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(159): Show | 181 | 222 | 0.8153 | 0 | c.151 others(4): Show |
p.Asn others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 13/20 | 1728/6507 | 1515/2571 | 505/856 | chr12 | TogoVar | ||
| ATP6V0A2_chr12_123707353_123766755 | 123744891 | C | T | synonymous_variant | LOW | NA19086.hp1 | a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0101 | 1 | 222 | 0.0045 | 0 | c.152 others(4): Show |
p.Val others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 13/20 | 1737/6507 | 1524/2571 | 508/856 | chr12 | TogoVar | ||
| ATP6V0A2_chr12_123707353_123766755 | 123748722 | G | A | synonymous_variant | LOW | HG01099.hp2 NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0118a0001c0005t0012g0119a0001c0005t0012g0120 | 3 | 222 | 0.0135 | 0 | c.187 others(4): Show |
p.Leu others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 15/20 | 2085/6507 | 1872/2571 | 624/856 | chr12 | TogoVar | ||
| ATP6V0A2_chr12_123707353_123766755 | 123754482 | C | T | synonymous_variant | LOW | HG01168.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0152 | 1 | 222 | 0.0045 | 0 | c.223 others(4): Show |
p.Cys others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 18/20 | 2451/6507 | 2238/2571 | 746/856 | chr12 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138706666 | T | C | synonymous_variant | LOW | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0195a0001c0021t0001g0196 | 2 | 376 | 0.0053 | 0 | c.248 others(4): Show |
p.Pro others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 22/22 | 2764/3136 | 2481/2523 | 827/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138709746 | C | T | synonymous_variant | LOW | HG02109.hp2 HG02647.hp1 HG03225.hp2 others(2): Show |
a0001a0002 | a0001c0013a0002c0043 | a0001c0013t0001a0002c0043t0006 | a0001c0013t0001g0103a0001c0013t0001g0181a0001c0013t0001g0206others(2): Show | 5 | 376 | 0.0133 | 0 | c.230 others(4): Show |
p.Thr others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/22 | 2590/3136 | 2307/2523 | 769/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138728815 | C | T | synonymous_variant | LOW | HG00438.hp2 | a0002 | a0002c0046 | a0002c0046t0001 | a0002c0046t0001g0367 | 1 | 376 | 0.0027 | 0 | c.195 others(4): Show |
p.Pro others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/22 | 2239/3136 | 1956/2523 | 652/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138732937 | G | A | synonymous_variant | LOW | HG02615.hp1 HG03130.hp1 HG03453.hp1 others(1): Show |
a0003a0004a0009 | a0003c0031a0003c0033a0004c0041others(1): Show | a0003c0031t0006a0003c0033t0004a0004c0041t0004others(1): Show | a0003c0031t0006g0344a0003c0033t0004g0364a0004c0041t0004g0006others(1): Show | 4 | 376 | 0.0106 | 0 | c.184 others(4): Show |
p.Phe others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/22 | 2131/3136 | 1848/2523 | 616/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138732973 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(247): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0008a0001c0014others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0024others(247): Show | 250 | 376 | 0.6649 | 0 | c.181 others(4): Show |
p.His others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/22 | 2095/3136 | 1812/2523 | 604/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138734165 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0013others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0024others(266): Show | 269 | 376 | 0.7154 | 0 | c.166 others(4): Show |
p.Phe others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 16/22 | 1945/3136 | 1662/2523 | 554/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138734186 | C | T | synonymous_variant | LOW | HG02145.hp2 HG02486.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0010a0001c0021a0001c0029 | a0001c0010t0002a0001c0010t0004a0001c0021t0001others(1): Show | a0001c0010t0002g0035a0001c0010t0002g0197a0001c0010t0002g0198others(5): Show | 8 | 376 | 0.0213 | 0 | c.164 others(4): Show |
p.Leu others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 16/22 | 1924/3136 | 1641/2523 | 547/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138739555 | C | T | synonymous_variant | LOW | HG00558.hp2 HG02257.hp2 NA18943.hp2 |
a0001a0002 | a0001c0030a0002c0025 | a0001c0030t0001a0002c0025t0001 | a0001c0030t0001g0204a0002c0025t0001g0205a0002c0025t0001g0286 | 3 | 376 | 0.0080 | 0 | c.155 others(4): Show |
p.Pro others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/22 | 1840/3136 | 1557/2523 | 519/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138745134 | G | A | synonymous_variant | LOW | HG02717.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0025 | 1 | 376 | 0.0027 | 0 | c.146 others(4): Show |
p.Asn others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 14/22 | 1750/3136 | 1467/2523 | 489/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138749192 | G | A | synonymous_variant | LOW | HG00438.hp1 HG00544.hp1 HG01891.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0014a0001c0023a0002c0012others(7): Show | a0001c0014t0001a0001c0014t0004a0001c0023t0001others(9): Show | a0001c0014t0001g0094a0001c0014t0001g0125a0001c0014t0001g0267others(20): Show | 23 | 376 | 0.0612 | 0 | c.115 others(4): Show |
p.Val others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 12/22 | 1438/3136 | 1155/2523 | 385/840 | chr7 | TogoVar | ||
| ATP6V0A4_chr7_138701294_138803196 | 138755770 | A | G | synonymous_variant | LOW | HG03225.hp1 NA18906.hp1 NA19030.hp1 others(1): Show |
a0001a0002 | a0001c0020a0001c0029a0002c0038 | a0001c0020t0001a0001c0020t0007a0001c0029t0001others(1): Show | a0001c0020t0001g0036a0001c0020t0007g0373a0001c0029t0001g0110others(1): Show | 4 | 376 | 0.0106 | 0 | c.735 others(3): Show |
p.Thr others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 10/22 | 1018/3136 | 735/2523 | 245/840 | chr7 | TogoVar | ||
| ATP6V0B_chr1_43969960_43983295 | 43975097 | G | C | synonymous_variant | LOW | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(41): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0004a0001c0002t0002g0004a0001c0002t0002g0017 | 44 | 396 | 0.1111 | 0 | c.57G others(2): Show |
p.Ala others(5): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 1/8 | 138/987 | 57/618 | 19/205 | chr1 | TogoVar | ||
| ATP6V0C_chr16_2508952_2525218 | 2514163 | G | A | synonymous_variant | LOW | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 336 | 0.0030 | 0 | c.60G others(2): Show |
p.Ser others(5): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/3 | 212/1093 | 60/468 | 20/155 | chr16 | TogoVar | ||
| ATP6V0C_chr16_2508952_2525218 | 2519255 | C | T | synonymous_variant | LOW | HG02074.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 336 | 0.0030 | 0 | c.117 others(3): Show |
p.Thr others(5): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 2/3 | 269/1093 | 117/468 | 39/155 | chr16 | TogoVar | ||
| ATP6V0C_chr16_2508952_2525218 | 2519559 | C | T | synonymous_variant | LOW | NA18957.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 336 | 0.0030 | 0 | c.282 others(3): Show |
p.Gly others(5): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 3/3 | 434/1093 | 282/468 | 94/155 | chr16 | TogoVar | ||
| ATP6V0D1_chr16_67433019_67486157 | 67453576 | A | G | synonymous_variant | LOW | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 174 | 0.0058 | 0 | c.270 others(3): Show |
p.Tyr others(5): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 2/8 | 341/1636 | 270/1056 | 90/351 | chr16 | TogoVar | ||
| ATP6V0D2_chr8_86093910_86159225 | 86139628 | G | A | synonymous_variant | LOW | HG01346.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0141 | 1 | 360 | 0.0028 | 0 | c.474 others(3): Show |
p.Thr others(6): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 3/8 | 543/2370 | 474/1053 | 158/350 | chr8 | TogoVar | ||
| ATP6V0D2_chr8_86093910_86159225 | 86141517 | T | C | synonymous_variant | LOW | HG02630.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0340 | 1 | 360 | 0.0028 | 0 | c.549 others(3): Show |
p.Asn others(6): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 4/8 | 618/2370 | 549/1053 | 183/350 | chr8 | TogoVar | ||
| ATP6V0E1_chr5_172978771_173040445 | 172983884 | G | A | synonymous_variant | LOW | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 292 | 0.0034 | 0 | c.24G others(2): Show |
p.Val others(4): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/4 | 114/1419 | 24/246 | 8/81 | chr5 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70935981 | T | C | synonymous_variant | LOW | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(66): Show |
a0002a0004 | a0002c0008a0002c0010a0002c0011others(5): Show | a0002c0008t0002a0002c0010t0002a0002c0011t0002others(7): Show | a0002c0008t0002g0278a0002c0008t0002g0344a0002c0008t0002g0365others(65): Show | 69 | 440 | 0.1568 | 0 | c.27T others(2): Show |
p.Pro others(4): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 82/1907 | 27/1542 | 9/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70943677 | C | T | synonymous_variant | LOW | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0035others(10): Show | a0001c0002t0001a0001c0007t0001a0001c0007t0011others(11): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0011others(127): Show | 139 | 440 | 0.3159 | 0 | c.138 others(3): Show |
p.Ser others(5): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/14 | 193/1907 | 138/1542 | 46/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70943683 | C | T | synonymous_variant | LOW | HG02630.hp1 HG02886.hp1 HG02922.hp1 others(3): Show |
a0002 | a0002c0013a0002c0024 | a0002c0013t0002a0002c0024t0002 | a0002c0013t0002g0386a0002c0013t0002g0388a0002c0013t0002g0389others(3): Show | 6 | 440 | 0.0136 | 0 | c.144 others(3): Show |
p.Asn others(5): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/14 | 199/1907 | 144/1542 | 48/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70960060 | C | T | synonymous_variant | LOW | HG03453.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0120 | 1 | 440 | 0.0023 | 0 | c.567 others(3): Show |
p.Ala others(6): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 6/14 | 622/1907 | 567/1542 | 189/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70960947 | G | C | synonymous_variant | LOW | NA19091.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0330 | 1 | 440 | 0.0023 | 0 | c.612 others(3): Show |
p.Ala others(6): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 7/14 | 667/1907 | 612/1542 | 204/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70960989 | C | T | synonymous_variant | LOW | HG01109.hp1 HG02055.hp2 HG02109.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0017a0001c0035a0002c0012others(3): Show | a0001c0017t0004a0001c0017t0009a0001c0035t0004others(5): Show | a0001c0017t0004g0046a0001c0017t0004g0141a0001c0017t0009g0124others(12): Show | 15 | 440 | 0.0341 | 0 | c.654 others(3): Show |
p.Asp others(6): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 7/14 | 709/1907 | 654/1542 | 218/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70963254 | C | T | synonymous_variant | LOW | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(215): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0002c0003others(11): Show | a0001c0002t0001a0001c0005t0001a0002c0003t0001others(11): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0011others(205): Show | 218 | 440 | 0.4955 | 0 | c.100 others(4): Show |
p.Arg others(6): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 10/14 | 1057/1907 | 1002/1542 | 334/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70963275 | C | T | synonymous_variant | LOW | HG00597.hp1 HG00609.hp1 NA18975.hp2 |
a0002a0003 | a0002c0019a0003c0036 | a0002c0019t0008a0003c0036t0008 | a0002c0019t0008g0300a0002c0019t0008g0311a0003c0036t0008g0218 | 3 | 440 | 0.0068 | 0 | c.102 others(4): Show |
p.Ser others(6): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 10/14 | 1078/1907 | 1023/1542 | 341/513 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70964807 | T | G | synonymous_variant | LOW | HG00408.hp2 HG00609.hp2 HG00673.hp2 others(2): Show |
a0002a0003 | a0002c0027a0003c0015 | a0002c0027t0001a0003c0015t0001 | a0002c0027t0001g0327a0003c0015t0001g0016a0003c0015t0001g0250others(1): Show | 5 | 440 | 0.0114 | 0 | c.132 others(4): Show |
p.Ser others(6): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 13/14 | 1375/1907 | 1320/1542 | 440/513 | chr2 | TogoVar | ||
| ATP6V1B2_chr8_20192381_20226696 | 20212128 | C | T | synonymous_variant | LOW | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0186 | 1 | 402 | 0.0025 | 0 | c.732 others(3): Show |
p.Phe others(6): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 8/14 | 758/2856 | 732/1536 | 244/511 | chr8 | TogoVar | ||
| ATP6V1B2_chr8_20192381_20226696 | 20218260 | T | C | synonymous_variant | LOW | NA18971.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 402 | 0.0025 | 0 | c.137 others(4): Show |
p.Phe others(6): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 13/14 | 1400/2856 | 1374/1536 | 458/511 | chr8 | TogoVar | ||
| ATP6V1C1_chr8_103016083_103078051 | 103042375 | T | C | synonymous_variant | LOW | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(22): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0001c0002t0006a0001c0002t0016others(2): Show | a0001c0002t0003g0285a0001c0002t0006g0022a0001c0002t0006g0023others(13): Show | 25 | 412 | 0.0607 | 0 | c.168 others(3): Show |
p.Asp others(5): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/13 | 350/5635 | 168/1149 | 56/382 | chr8 | TogoVar |