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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2C1_chr3_130889084_131008150 | 130941223 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0093others(44): Show | 47 | 382 | 0.1230 | -10 | c.423 others(25): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130970369 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 382 | 0.0026 | -10 | c.141 others(29): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130986864 | ATTAGTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0025others(13): Show | 16 | 382 | 0.0419 | -10 | c.184 others(29): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 131006635 | TTGTGTGT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01517.hp1 HG02027.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0136a0001c0001t0010g0112others(23): Show | 26 | 382 | 0.0681 | -10 | c.*52 others(21): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 3486 | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84412502 | ATGTGTCT others(3): Show |
A | intron_variant | MODIFIER | NA18940.hp1 NA18998.hp2 NA19010.hp2 |
a0001a0024 | a0001c0001a0001c0002a0024c0065 | a0001c0001t0002a0001c0002t0002a0024c0065t0001 | a0001c0001t0002g0379a0001c0002t0002g0090a0024c0065t0001g0171 | 3 | 432 | 0.0069 | -10 | c.515 others(27): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84419208 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 432 | 0.0023 | -10 | c.625 others(27): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46081663 | AAAAAAAA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(71): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0002a0001c0001t0021a0001c0001t0022others(20): Show | a0001c0001t0002g0001a0001c0001t0002g0017a0001c0001t0002g0018others(45): Show | 74 | 390 | 0.1897 | -10 | c.*26 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 12/12 | 2609 | chr18 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46081673 | CAAAAAAA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01943.hp2 HG02004.hp2 HG02129.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0032a0001c0002t0119 | a0001c0002t0010g0041a0001c0002t0010g0042a0001c0002t0010g0203others(4): Show | 9 | 390 | 0.0231 | -10 | c.*25 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 12/12 | 2599 | chr18 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46099573 | CTGTGCCC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0226 | 1 | 390 | 0.0026 | -10 | c.-13 others(21): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1278 | chr18 | TogoVar | ||||||
ATP5IF1_chr1_28231124_28243100 | 28242779 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | -10 | c.*48 others(21): Show |
ATP5IF1 | ENSG00000130770.18 | transcript | ENST00000335514.10 | protein_coding | 4680 | chr1 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48890143 | CAAAAAGA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 334 | 0.0030 | -10 | c.-27 others(21): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2643 | chr17 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48900074 | CCATTAGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -10 | c.*43 others(21): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 4204 | chr17 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667952 | CACACATA others(3): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0201 | 2 | 418 | 0.0048 | -10 | c.311 others(27): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | CGAGAGAG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02451.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0074a0001c0001t0001g0087 | 3 | 418 | 0.0072 | -10 | c.-32 others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
ATP5MC3_chr2_175171258_175186710 | 175174742 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021 | 1 | 390 | 0.0026 | -10 | c.*35 others(21): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1515 | chr2 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02056.hp2 HG02602.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(3): Show | 15 | 346 | 0.0434 | -10 | c.-58 others(19): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | ||||||
ATP5MG_chr11_118396606_118414847 | 118410633 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 336 | 0.0030 | -10 | c.*15 others(21): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 787 | chr11 | TogoVar | ||||||
ATP5MG_chr11_118396606_118414847 | 118413823 | TGGAACTA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 336 | 0.0030 | -10 | c.*47 others(21): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 3977 | chr11 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103924453 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0178a0001c0001t0001g0184a0002c0002t0001g0015others(8): Show | 16 | 440 | 0.0364 | -10 | c.-29 others(21): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2925 | chr14 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0085a0001c0001t0001g0154others(2): Show | 8 | 416 | 0.0192 | -10 | c.-7- others(23): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40602932 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(182): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0007 | a0001c0001t0001a0001c0001t0004a0002c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(106): Show | 185 | 299 | 0.6187 | -10 | c.858 others(27): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | chrX | TogoVar | ||||||
ATP6V0A1_chr17_42453878_42527579 | 42485539 | GTTTGTTT others(3): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0222 | 2 | 320 | 0.0063 | -10 | c.811 others(27): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123708979 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 222 | 0.0045 | -10 | c.-35 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3373 | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123721190 | GTGTTTTG others(3): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 222 | 0.0045 | -10 | c.197 others(27): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123761991 | GTGGGGTC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0097 | 1 | 222 | 0.0045 | -10 | c.*39 others(21): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 237 | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138707300 | ATATTTAT others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0103a0001c0013t0001g0181a0001c0013t0001g0206others(1): Show | 4 | 376 | 0.0106 | -10 | c.243 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718277 | GCGGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0123 | 1 | 376 | 0.0027 | -10 | c.214 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718279 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01081.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0008others(7): Show | a0001c0001t0001a0001c0007t0001a0001c0008t0001others(11): Show | a0001c0001t0001g0077a0001c0001t0001g0087a0001c0001t0001g0090others(24): Show | 27 | 376 | 0.0718 | -10 | c.214 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718577 | CATGGGGC others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01257.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(8): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(9): Show | a0001c0001t0001g0071a0001c0001t0001g0121a0001c0005t0001g0123others(20): Show | 23 | 376 | 0.0612 | -10 | c.214 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138727112 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00733.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0040a0001c0001t0001g0048a0001c0001t0001g0058others(70): Show | 73 | 376 | 0.1942 | -10 | c.201 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138730341 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0346 | 1 | 376 | 0.0027 | -10 | c.190 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138733572 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02040.hp1 HG02074.hp1 others(24): Show |
a0001a0002a0005others(2): Show | a0001c0007a0002c0003a0002c0027others(4): Show | a0001c0007t0001a0002c0003t0001a0002c0003t0002others(7): Show | a0001c0007t0001g0055a0001c0007t0001g0310a0001c0007t0001g0333others(24): Show | 27 | 376 | 0.0718 | -10 | c.169 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 16/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138763158 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0020a0001c0001t0001g0098a0001c0001t0001g0106others(38): Show | 41 | 376 | 0.1090 | -10 | c.292 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 5/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138789968 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02145.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0349a0001c0001t0001g0355others(12): Show | 15 | 376 | 0.0399 | -10 | c.-12 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138800695 | CTTCTTCT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02132.hp2 HG02135.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0290a0001c0001t0001g0368a0002c0002t0001g0193others(1): Show | 4 | 376 | 0.0106 | -10 | c.-27 others(21): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2500 | chr7 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67433687 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02004.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0078others(4): Show | 7 | 174 | 0.0402 | -10 | c.*48 others(21): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 4331 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67433719 | CACACACA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0041a0001c0001t0009g0016 | 2 | 174 | 0.0115 | -10 | c.*47 others(21): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 4299 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67466326 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0114a0001c0001t0002g0149others(3): Show | 6 | 174 | 0.0345 | -10 | c.131 others(29): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86126236 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02615.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111a0002c0002t0001g0297a0002c0002t0001g0298others(3): Show | 6 | 360 | 0.0167 | -10 | c.302 others(29): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145229 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 360 | 0.0028 | -10 | c.639 others(27): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145233 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0028a0001c0001t0001g0125a0001c0001t0003g0140 | 3 | 360 | 0.0083 | -10 | c.639 others(27): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173011175 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00639.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0046a0001c0001t0001g0207others(50): Show | 53 | 292 | 0.1815 | -10 | c.153 others(27): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173017851 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0286a0001c0001t0006g0201a0001c0001t0006g0202others(1): Show | 4 | 292 | 0.0137 | -10 | c.153 others(27): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113749263 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG01934.hp2 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(1): Show | a0001c0001t0001g0137a0001c0001t0006g0010a0001c0001t0006g0138others(4): Show | 8 | 312 | 0.0256 | -10 | c.-14 others(27): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113771429 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02897.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063a0001c0001t0002g0130 | 2 | 312 | 0.0064 | -10 | c.-13 others(27): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70940907 | CTTTTTCT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 NA19080.hp2 NA19086.hp2 |
a0001a0002a0003 | a0001c0005a0002c0008a0003c0016 | a0001c0005t0001a0002c0008t0002a0003c0016t0001 | a0001c0005t0001g0036a0002c0008t0002g0399a0003c0016t0001g0255 | 3 | 440 | 0.0068 | -10 | c.119 others(27): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945699 | GAGATATA others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02280.hp2 others(9): Show |
a0001a0002a0003 | a0001c0005a0002c0006a0002c0008others(3): Show | a0001c0005t0001a0002c0006t0001a0002c0008t0002others(3): Show | a0001c0005t0001g0061a0002c0006t0001g0355a0002c0008t0002g0399others(9): Show | 12 | 440 | 0.0273 | -10 | c.174 others(27): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03669.hp2 HG03927.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0009 | a0001c0002t0001a0002c0003t0001a0003c0009t0001 | a0001c0002t0001g0162a0001c0002t0001g0169a0002c0003t0001g0271others(1): Show | 4 | 440 | 0.0091 | -10 | c.174 others(27): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70950932 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 440 | 0.0023 | -10 | c.175 others(27): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103047430 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 412 | 0.0024 | -10 | c.201 others(27): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |