| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP2B3_chrX_153512642_153587929 | 153557882 | G | GCGCC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01074.hp1 others(23): Show |
a0001a0002 | a0001c0002a0001c0016a0002c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0066a0001c0002t0001g0086a0001c0002t0001g0110others(23): Show | 26 | 267 | 0.0974 | 4 | c.243 others(21): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153563136 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(202): Show |
a0000a0001a0002others(3): Show | a0000c0013a0001c0001a0001c0002others(13): Show | a0000c0013t0041a0001c0001t0001a0001c0001t0002others(52): Show | a0000c0013t0041g0041a0001c0001t0001g0002a0001c0001t0001g0003others(187): Show | 205 | 267 | 0.7678 | 4 | c.315 others(21): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153571003 | T | TACAC | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp1 others(65): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0025a0001c0001t0001g0047a0001c0001t0001g0078others(60): Show | 68 | 267 | 0.2547 | 4 | c.334 others(23): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153584569 | A | AAGGG | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0022a0001c0002t0016 | a0001c0001t0016g0186a0001c0001t0022g0233a0001c0002t0016g0076 | 3 | 267 | 0.0112 | 4 | c.*42 others(15): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1641 | chrX | TogoVar | ||||||
| ATP2B3_chrX_153512642_153587929 | 153585257 | C | CTCTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(262): Show |
a0000a0001a0002others(5): Show | a0000c0008a0000c0013a0000c0018others(21): Show | a0000c0008t0021a0000c0013t0041a0000c0018t0013others(77): Show | a0000c0008t0021g0228a0000c0013t0041g0041a0000c0018t0013g0090others(244): Show | 265 | 267 | 0.9925 | 4 | c.*49 others(15): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2329 | chrX | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203624212 | G | GAGAA | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02809.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0057a0001c0001t0001g0072a0001c0001t0005g0065 | 3 | 318 | 0.0094 | 4 | c.-34 others(15): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2619 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203624253 | G | GGAAA | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02523.hp2 HG06807.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0044a0001c0001t0003g0001a0001c0001t0003g0161others(5): Show | 8 | 318 | 0.0252 | 4 | c.-34 others(15): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2578 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203626272 | G | GGTGT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02056.hp2 HG02083.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0016a0001c0001t0001g0110a0001c0001t0002g0153others(15): Show | 18 | 318 | 0.0566 | 4 | c.-14 others(15): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 559 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203631786 | T | TTTTG | intron_variant | MODIFIER | HG01243.hp1 HG02809.hp1 HG03516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0015a0001c0001t0055a0001c0002t0010others(3): Show | a0001c0001t0015g0052a0001c0001t0055g0022a0001c0002t0010g0024others(3): Show | 6 | 318 | 0.0189 | 4 | c.-46 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203633713 | G | GATAA | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01496.hp1 others(26): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0002g0175others(25): Show | 29 | 318 | 0.0912 | 4 | c.-46 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203678392 | C | CTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00673.hp1 others(26): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0041a0001c0001t0001g0076a0001c0001t0001g0092others(26): Show | 29 | 318 | 0.0912 | 4 | c.-46 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203686622 | A | ACTGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(282): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(281): Show | 285 | 318 | 0.8962 | 4 | c.193 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0015a0001c0021others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(5): Show | a0001c0001t0002g0263a0001c0001t0002g0308a0001c0001t0002g0309others(7): Show | 10 | 318 | 0.0315 | 4 | c.193 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203703164 | C | CGAGA | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0001t0006a0001c0001t0040others(5): Show | a0001c0001t0002g0289a0001c0001t0006g0140a0001c0001t0040g0157others(5): Show | 8 | 318 | 0.0252 | 4 | c.938 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203717626 | T | TTTTA | intron_variant | MODIFIER | HG00733.hp2 HG02257.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0024 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0001g0055a0001c0001t0004g0211a0001c0001t0011g0200others(4): Show | 7 | 318 | 0.0220 | 4 | c.240 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(82): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0076a0001c0001t0001g0077others(82): Show | 85 | 318 | 0.2673 | 4 | c.240 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTC | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG02083.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0002g0244others(4): Show | 7 | 318 | 0.0220 | 4 | c.302 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203723469 | T | TCTGC | intron_variant | MODIFIER | HG01109.hp2 HG02965.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0014a0001c0019t0014 | a0001c0001t0014g0315a0001c0001t0014g0316a0001c0019t0014g0314 | 3 | 318 | 0.0094 | 4 | c.302 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203724865 | C | CTCTT | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01978.hp2 others(10): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0002g0046a0001c0001t0002g0162a0001c0001t0002g0175others(10): Show | 13 | 318 | 0.0409 | 4 | c.313 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203725904 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(65): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0057a0001c0001t0001g0092a0001c0001t0002g0046others(65): Show | 68 | 318 | 0.2138 | 4 | c.313 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203731849 | C | CAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0002g0192a0001c0001t0002g0288a0001c0001t0006g0078others(5): Show | 8 | 318 | 0.0252 | 4 | c.330 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203749034 | C | CAATA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(66): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0084a0001c0001t0002g0192a0001c0001t0002g0218others(66): Show | 69 | 318 | 0.2170 | 4 | c.*91 others(15): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 4954 | chr1 | TogoVar | ||||||
| ATP2C1_chr3_130889084_131008150 | 130907079 | T | TACAC | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG02717.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0313others(8): Show | 11 | 382 | 0.0288 | 4 | c.6+1 others(19): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130940905 | A | ATTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0095a0001c0001t0001g0145a0001c0001t0001g0147others(23): Show | 26 | 382 | 0.0681 | 4 | c.422 others(19): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130941223 | A | AGTGT | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(3): Show | 6 | 382 | 0.0157 | 4 | c.423 others(19): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130953076 | C | CGTAT | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01109.hp1 others(51): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0024others(51): Show | 54 | 382 | 0.1414 | 4 | c.532 others(19): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130970369 | T | TACAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0088others(53): Show | 56 | 382 | 0.1466 | 4 | c.141 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130994648 | C | CATTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01169.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222a0001c0001t0001g0245a0001c0001t0001g0301others(4): Show | 7 | 382 | 0.0183 | 4 | c.205 others(21): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130995637 | T | TTTTA | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01123.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0088a0001c0001t0001g0102others(17): Show | 21 | 382 | 0.0550 | 4 | c.205 others(21): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84370144 | A | ATTCC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(180): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0078a0001c0001t0001g0313a0001c0001t0001g0329others(180): Show | 183 | 432 | 0.4236 | 4 | c.99+ others(19): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84370675 | C | CTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01168.hp1 others(12): Show |
a0001a0002a0008others(2): Show | a0001c0002a0001c0003a0001c0009others(7): Show | a0001c0002t0003a0001c0003t0001a0001c0009t0001others(7): Show | a0001c0002t0003g0022a0001c0003t0001g0011a0001c0003t0001g0023others(12): Show | 15 | 432 | 0.0347 | 4 | c.99+ others(19): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84391113 | C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01361.hp2 HG01934.hp1 others(28): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0009others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0002t0001g0113a0001c0002t0002g0090a0001c0002t0002g0098others(28): Show | 31 | 432 | 0.0718 | 4 | c.100 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84396223 | C | CGTGT | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02451.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0002a0001c0003t0001a0001c0005t0001others(9): Show | a0001c0001t0002g0216a0001c0003t0001g0048a0001c0005t0001g0207others(15): Show | 18 | 432 | 0.0417 | 4 | c.100 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84412301 | T | TGTGC | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02630.hp2 others(1): Show |
a0001a0004 | a0001c0018a0001c0029a0004c0013 | a0001c0018t0002a0001c0029t0002a0004c0013t0001 | a0001c0018t0002g0006a0001c0029t0002g0388a0001c0029t0002g0389others(1): Show | 4 | 432 | 0.0093 | 4 | c.515 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84412414 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(166): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0078a0001c0001t0001g0313a0001c0001t0001g0391others(166): Show | 169 | 432 | 0.3912 | 4 | c.515 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84419208 | T | TAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG02056.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0002t0002g0155a0001c0002t0002g0283a0001c0002t0003g0243others(3): Show | 6 | 432 | 0.0139 | 4 | c.625 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84436763 | G | GTTTT | intron_variant | MODIFIER | HG00639.hp2 HG02148.hp2 HG02647.hp1 others(3): Show |
a0002 | a0002c0004a0002c0007a0002c0016others(2): Show | a0002c0004t0001a0002c0007t0001a0002c0016t0002others(2): Show | a0002c0004t0001g0094a0002c0004t0001g0405a0002c0007t0001g0103others(3): Show | 6 | 432 | 0.0139 | 4 | c.987 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84441959 | T | TAGTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(297): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0003others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0078a0001c0001t0001g0329a0001c0001t0001g0334others(297): Show | 300 | 432 | 0.6944 | 4 | c.131 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP2C2_chr16_84363538_84469187 | 84452497 | C | CTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00741.hp1 others(8): Show |
a0001a0011 | a0001c0003a0001c0005a0001c0009others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(1): Show | a0001c0003t0001g0023a0001c0003t0001g0024a0001c0003t0001g0289others(8): Show | 11 | 432 | 0.0255 | 4 | c.183 others(21): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP4A_chr19_35545031_35568658 | 35554733 | T | TGTAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(285): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0023others(140): Show | 288 | 426 | 0.6761 | 4 | c.248 others(21): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 16/21 | chr19 | TogoVar | ||||||
| ATP4A_chr19_35545031_35568658 | 35566049 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG02257.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0088a0001c0001t0001g0091a0001c0001t0001g0092others(14): Show | 18 | 426 | 0.0423 | 4 | c.-24 others(15): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 2392 | chr19 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46075790 | C | CTTTT | downstream_gene_variant | MODIFIER | HG01943.hp2 HG02004.hp2 HG02129.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0003a0001c0001t0018a0001c0001t0039others(8): Show | a0001c0001t0003g0003a0001c0001t0018g0040a0001c0001t0018g0200others(15): Show | 22 | 390 | 0.0564 | 4 | c.*84 others(15): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 4457 | chr18 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46076840 | T | TTATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(55): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0014a0001c0001t0024others(23): Show | a0001c0001t0003g0003a0001c0001t0003g0047a0001c0001t0003g0232others(38): Show | 58 | 390 | 0.1487 | 4 | c.*74 others(15): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 3407 | chr18 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46080641 | T | TCTCA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(89): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0014a0001c0001t0015others(41): Show | a0001c0001t0003g0003a0001c0001t0003g0047a0001c0001t0003g0232others(65): Show | 92 | 390 | 0.2359 | 4 | c.*36 others(15): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 12/12 | 3640 | chr18 | TogoVar | |||||
| ATP5F1A_chr18_46075248_46103296 | 46092617 | T | TTATA | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01106.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(8): Show | a0001c0001t0001g0121a0001c0001t0001g0124a0001c0001t0003g0250others(9): Show | 17 | 390 | 0.0436 | 4 | c.140 others(19): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46092617 | T | TTTTA | intron_variant | MODIFIER | HG02895.hp2 HG03471.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0124a0001c0001t0125a0001c0001t0126 | a0001c0001t0124g0229a0001c0001t0125g0210a0001c0001t0126g0211 | 3 | 390 | 0.0077 | 4 | c.140 others(19): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACAT | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0040a0001c0001t0018g0200a0001c0001t0018g0201 | 4 | 390 | 0.0103 | 4 | c.139 others(19): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
| ATP5F1A_chr18_46075248_46103296 | 46096500 | C | CAAAA | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0103a0001c0001t0124others(2): Show | a0001c0001t0018g0040a0001c0001t0018g0200a0001c0001t0018g0201others(4): Show | 8 | 390 | 0.0205 | 4 | c.61- others(19): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
| ATP5F1B_chr12_56633175_56650984 | 56647717 | A | AACAC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(85): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(9): Show | 88 | 390 | 0.2256 | 4 | c.-17 others(15): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 1734 | chr12 | TogoVar | ||||||
| ATP5F1C_chr10_7783177_7812801 | 7798196 | A | ATGTG | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0052 | 3 | 420 | 0.0071 | 4 | c.224 others(19): Show |
ATP5F1C | ENSG00000165629.20 | transcript | ENST00000356708.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |