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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11A_chr13_112685038_112892168 | 112698250 | G | GTGCT | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02056.hp1 others(8): Show |
a0001a0004a0014 | a0001c0002a0001c0014a0001c0017others(5): Show | a0001c0002t0012a0001c0002t0015a0001c0002t0032others(8): Show | a0001c0002t0012g0252a0001c0002t0015g0054a0001c0002t0032g0179others(8): Show | 11 | 254 | 0.0433 | 4 | c.39+ others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112702345 | C | CAAAA | intron_variant | MODIFIER | HG00741.hp2 HG02895.hp1 HG03017.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0023a0001c0002t0001others(8): Show | a0001c0001t0001g0156a0001c0001t0023g0157a0001c0001t0023g0158others(9): Show | 12 | 254 | 0.0472 | 4 | c.39+ others(21): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112710964 | G | GCCAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(88): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(185): Show | 188 | 254 | 0.7402 | 4 | c.39+ others(21): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112710976 | C | CCCAG | intron_variant | MODIFIER | HG01069.hp2 HG02559.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0021a0001c0002t0003a0001c0002t0014others(3): Show | a0001c0001t0021g0240a0001c0002t0003g0198a0001c0002t0014g0197others(3): Show | 6 | 254 | 0.0236 | 4 | c.39+ others(21): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112736067 | G | GAGTC | intron_variant | MODIFIER | HG01261.hp1 HG02976.hp1 HG03225.hp2 |
a0001a0014 | a0001c0014a0014c0023 | a0001c0014t0003a0001c0014t0043a0014c0023t0002 | a0001c0014t0003g0178a0001c0014t0043g0056a0014c0023t0002g0064 | 3 | 254 | 0.0118 | 4 | c.39+ others(21): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112740126 | T | TTCTC | intron_variant | MODIFIER | HG02922.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0032 | a0001c0002t0015g0054a0001c0002t0032g0179 | 2 | 254 | 0.0079 | 4 | c.40- others(21): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112756166 | T | TTAAA | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG02056.hp1 others(4): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0001a0001c0002t0012a0001c0014t0003others(3): Show | a0001c0001t0001g0219a0001c0002t0012g0191a0001c0002t0012g0252others(4): Show | 7 | 254 | 0.0276 | 4 | c.40- others(21): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112803928 | T | TCCTC | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01106.hp2 others(2): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0011others(2): Show | a0001c0004t0001a0001c0006t0001a0001c0011t0065others(2): Show | a0001c0004t0001g0106a0001c0006t0001g0184a0001c0011t0065g0130others(2): Show | 5 | 254 | 0.0197 | 4 | c.163 others(21): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112803970 | C | CCCCA | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0044 | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(3): Show | a0001c0002t0003g0198a0001c0002t0004g0041a0001c0002t0016g0209others(3): Show | 6 | 254 | 0.0236 | 4 | c.163 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112804117 | C | CCTTT | intron_variant | MODIFIER | HG01169.hp2 HG03710.hp2 NA19077.hp1 |
a0001a0002 | a0001c0001a0002c0003a0002c0010 | a0001c0001t0001a0002c0003t0033a0002c0010t0022 | a0001c0001t0001g0120a0002c0003t0033g0031a0002c0010t0022g0072 | 3 | 254 | 0.0118 | 4 | c.163 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACAC | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01243.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(22): Show | a0001c0001t0001g0071a0001c0001t0002g0050a0001c0001t0010g0002others(24): Show | 27 | 254 | 0.1063 | 4 | c.441 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182854752 | T | TACAC | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191a0001c0001t0003g0210a0001c0001t0003g0211 | 3 | 324 | 0.0093 | 4 | c.852 others(21): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182862907 | C | CATTT | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02572.hp1 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0019 | a0001c0002t0009g0267a0001c0002t0009g0268a0001c0002t0019g0297 | 3 | 324 | 0.0093 | 4 | c.120 others(23): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182867199 | G | GTAAT | intron_variant | MODIFIER | HG01257.hp1 HG03453.hp2 HG03486.hp1 |
a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0275a0004c0004t0007g0276a0004c0004t0007g0310 | 3 | 324 | 0.0093 | 4 | c.162 others(21): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 14/29 | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182883983 | G | GACTA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(114): Show |
a0001a0005a0007 | a0001c0001a0005c0006a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(109): Show | 117 | 324 | 0.3611 | 4 | c.251 others(21): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182888699 | T | TTTTA | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126a0001c0001t0002g0127a0001c0001t0002g0165others(6): Show | 9 | 324 | 0.0278 | 4 | c.284 others(21): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182911271 | G | GCCCC | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01070.hp2 others(60): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0121others(60): Show | 63 | 324 | 0.1944 | 4 | c.331 others(23): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182922285 | G | GTCTT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02109.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0019a0001c0002t0009g0247a0001c0002t0009g0248others(3): Show | 6 | 324 | 0.0185 | 4 | c.*41 others(15): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 657 | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182923516 | A | ATAGT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02280.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0005a0002c0003t0002 | a0001c0001t0003g0217a0001c0001t0003g0218a0001c0001t0003g0219others(15): Show | 18 | 324 | 0.0556 | 4 | c.*54 others(15): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 1888 | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182923827 | C | CAAAA | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02257.hp1 HG02818.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0010 | a0001c0002t0004g0001a0001c0002t0004g0296a0001c0002t0004g0298others(5): Show | 10 | 324 | 0.0309 | 4 | c.*57 others(15): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2199 | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182923899 | G | GGAAA | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007a0001c0002t0010others(1): Show | a0001c0002t0004g0280a0001c0002t0007g0273a0001c0002t0007g0274others(4): Show | 7 | 324 | 0.0216 | 4 | c.*57 others(15): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 2271 | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139756669 | C | CAACA | intron_variant | MODIFIER | NA19067.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0037 | 1 | 234 | 0.0043 | 4 | c.270 others(23): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 23/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139769275 | A | AACAT | intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0014 | 1 | 234 | 0.0043 | 4 | c.221 others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATAT | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01255.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0078a0001c0001t0001g0084a0001c0001t0001g0091others(15): Show | 18 | 234 | 0.0769 | 4 | c.221 others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139786493 | G | GTACC | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 234 | 0.0043 | 4 | c.159 others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 15/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139790464 | T | TCACA | intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 NA18959.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0011a0003c0004t0008 | a0001c0001t0001g0087a0001c0001t0001g0099a0001c0001t0001g0122others(3): Show | 6 | 234 | 0.0256 | 4 | c.120 others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 12/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139847399 | A | ACTAG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(52): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(8): Show | a0001c0001t0002g0057a0001c0001t0002g0067a0001c0001t0002g0070others(52): Show | 55 | 234 | 0.2350 | 4 | c.28- others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852452 | C | CGGGG | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG02040.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0109a0001c0001t0001g0145others(1): Show | 4 | 234 | 0.0171 | 4 | c.28- others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139861769 | T | TACAC | intron_variant | MODIFIER | HG02809.hp1 HG03579.hp1 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0113a0001c0001t0001g0211a0001c0001t0007g0233 | 3 | 234 | 0.0128 | 4 | c.28- others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAA | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 234 | 0.0043 | 4 | c.28- others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139890935 | T | TGTTG | intron_variant | MODIFIER | HG00639.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017a0001c0001t0003g0018 | 2 | 234 | 0.0086 | 4 | c.27+ others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139896619 | G | GTCTC | intron_variant | MODIFIER | NA18612.hp1 NA18959.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0099a0001c0001t0001g0155 | 3 | 234 | 0.0128 | 4 | c.27+ others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139919444 | A | AACAC | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG01943.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0078a0001c0001t0001g0083a0001c0001t0001g0168others(10): Show | 13 | 234 | 0.0556 | 4 | c.27+ others(21): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139922223 | A | AATAT | intron_variant | MODIFIER | HG00597.hp2 HG01433.hp1 HG01978.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(3): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | 234 | 0.0727 | 4 | c.27+ others(19): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24686440 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00642.hp1 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0005a0001c0005t0001others(3): Show | a0001c0002t0001g0064a0001c0003t0005g0081a0001c0005t0001g0010others(12): Show | 17 | 382 | 0.0445 | 4 | c.228 others(21): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24686777 | G | GGAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(22): Show | a0001c0001t0001g0259a0001c0001t0004g0325a0001c0001t0004g0328others(128): Show | 162 | 382 | 0.4241 | 4 | c.228 others(21): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24703234 | T | TTTTG | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp2 others(40): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0003t0001g0243others(36): Show | 43 | 382 | 0.1126 | 4 | c.201 others(23): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708878 | G | GAGAA | intron_variant | MODIFIER | HG03831.hp2 NA18952.hp2 NA18959.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0004g0308others(3): Show | 6 | 382 | 0.0157 | 4 | c.249 others(21): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708900 | G | GGAAA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00639.hp1 others(44): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(8): Show | a0001c0001t0001g0028a0001c0001t0001g0075a0001c0001t0001g0183others(37): Show | 47 | 382 | 0.1230 | 4 | c.249 others(21): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708942 | A | AAAGG | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0004a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0004g0325a0001c0003t0001g0288a0001c0003t0004g0329others(1): Show | 4 | 382 | 0.0105 | 4 | c.249 others(21): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGG | intron_variant | MODIFIER | HG00558.hp2 HG02559.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0209a0001c0001t0001g0218a0001c0002t0001g0014 | 4 | 382 | 0.0105 | 4 | c.249 others(21): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A1_chr19_19640198_19668676 | 19648807 | C | CAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00735.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0029others(15): Show | 36 | 380 | 0.0947 | 4 | c.263 others(21): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 19/25 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19661080 | A | AAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00621.hp1 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(46): Show | 85 | 380 | 0.2237 | 4 | c.397 others(21): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 1/25 | chr19 | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | G | GTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG01169.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(6): Show | 15 | 380 | 0.0395 | 4 | c.-29 others(15): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | C | CCACA | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG00733.hp1 others(60): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0032a0001c0001t0001g0134a0001c0001t0001g0135others(46): Show | 63 | 366 | 0.1721 | 4 | c.557 others(19): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17008038 | T | TTTCA | intron_variant | MODIFIER | HG02056.hp2 HG03098.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0228a0001c0003t0001g0227a0001c0004t0001g0277 | 3 | 366 | 0.0082 | 4 | c.11- others(19): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 1/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17013774 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01169.hp1 others(16): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0008a0001c0002t0001g0025others(15): Show | 19 | 366 | 0.0519 | 4 | c.-20 others(15): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 1847 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17015989 | C | CAAAA | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01109.hp2 others(36): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0126a0001c0001t0001g0134others(34): Show | 39 | 366 | 0.1066 | 4 | c.-42 others(15): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 4062 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194410296 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01106.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0083others(30): Show | 33 | 304 | 0.1086 | 4 | c.357 others(23): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194410937 | G | GGTGT | intron_variant | MODIFIER | HG02976.hp2 HG04115.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0023 | a0001c0001t0004g0029a0001c0001t0016g0280a0001c0001t0023g0177 | 3 | 304 | 0.0099 | 4 | c.357 others(23): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar |