| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATL1_chr14_50555145_50638045 | 50574935 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01952.hp1 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0079a0001c0001t0001g0080others(2): Show | 5 | 320 | 0.0156 | -8 | c.35- others(25): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ATL1_chr14_50555145_50638045 | 50574937 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230a0001c0001t0001g0231a0001c0001t0001g0232others(1): Show | 4 | 320 | 0.0125 | -8 | c.35- others(25): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ATL1_chr14_50555145_50638045 | 50616455 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0019others(108): Show | 115 | 320 | 0.3594 | -8 | c.862 others(25): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ATL2_chr2_38288954_38382273 | 38325623 | TACATACA others(1): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG02615.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148a0001c0003t0001g0149a0001c0003t0001g0150others(1): Show | 4 | 236 | 0.0170 | -8 | c.364 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38325627 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01884.hp1 others(17): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0003a0003c0004t0008a0003c0004t0013others(6): Show | a0003c0004t0003g0029a0003c0004t0003g0033a0003c0004t0003g0034others(17): Show | 20 | 236 | 0.0848 | -8 | c.364 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01496.hp1 HG02132.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0167a0002c0002t0001g0209a0002c0002t0005g0192 | 3 | 236 | 0.0127 | -8 | c.364 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38325699 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG04199.hp2 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0167a0002c0002t0001g0184a0002c0002t0007g0216 | 3 | 236 | 0.0127 | -8 | c.364 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38328087 | AGTAGCTA others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02886.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008a0001c0003t0003g0009a0001c0003t0003g0128others(2): Show | 5 | 236 | 0.0212 | -8 | c.364 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38352133 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(39): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0003c0005others(2): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0008others(16): Show | a0001c0003t0003g0008a0001c0003t0003g0009a0001c0003t0003g0011others(39): Show | 42 | 236 | 0.1780 | -8 | c.119 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38365674 | CCTTGGGA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01109.hp1 others(61): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0003c0004others(4): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0037others(25): Show | a0001c0001t0006g0134a0001c0001t0006g0135a0001c0001t0006g0137others(61): Show | 64 | 236 | 0.2712 | -8 | c.118 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| ATL2_chr2_38288954_38382273 | 38370448 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp1 others(42): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0079a0001c0001t0002g0050a0001c0001t0002g0054others(42): Show | 45 | 236 | 0.1907 | -8 | c.118 others(25): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| ATM_chr11_108218067_108374102 | 108273331 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0006a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(3): Show | a0001c0001t0001g0223a0001c0001t0001g0254a0001c0001t0001g0289others(6): Show | 9 | 304 | 0.0296 | -8 | c.328 others(25): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ATM_chr11_108218067_108374102 | 108317615 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(9): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0010a0001c0001t0026others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0217a0001c0001t0001g0219others(9): Show | 12 | 304 | 0.0395 | -8 | c.634 others(25): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ATM_chr11_108218067_108374102 | 108317650 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02895.hp2 HG02896.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0034a0002c0002t0003a0002c0005t0008others(1): Show | a0001c0001t0034g0152a0002c0002t0003g0137a0002c0005t0008g0098others(5): Show | 8 | 304 | 0.0263 | -8 | c.634 others(25): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ATM_chr11_108218067_108374102 | 108354062 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01515.hp2 HG01517.hp2 others(9): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0004a0004c0004t0005 | a0003c0003t0001g0192a0003c0003t0001g0193a0004c0004t0004g0168others(9): Show | 12 | 304 | 0.0395 | -8 | c.878 others(25): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ATM_chr11_108218067_108374102 | 108372174 | TATTCATT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0154a0001c0001t0011g0155a0001c0001t0011g0196others(1): Show | 4 | 304 | 0.0132 | -8 | c.*66 others(19): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 3073 | chr11 | TogoVar | ||||||
| ATN1_chr12_6922959_6947321 | 6923288 | GTATTTAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02486.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0040a0002c0002a0003c0005others(3): Show | a0001c0040t0001a0002c0002t0001a0003c0005t0001others(4): Show | a0001c0040t0001g0048a0002c0002t0001g0028a0003c0005t0001g0018others(7): Show | 16 | 414 | 0.0387 | -8 | c.-52 others(19): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 4670 | chr12 | TogoVar | ||||||
| ATOSA_chr15_52576321_52684388 | 52622960 | TATAAATA others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG01169.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0184a0001c0001t0001g0200others(46): Show | 52 | 362 | 0.1437 | -8 | c.17- others(23): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
| ATOSA_chr15_52576321_52684388 | 52672172 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(59): Show |
a0001a0002a0008others(1): Show | a0001c0003a0002c0002a0008c0016others(1): Show | a0001c0003t0001a0002c0002t0001a0008c0016t0001others(1): Show | a0001c0003t0001g0001a0001c0003t0001g0007a0001c0003t0001g0008others(51): Show | 62 | 362 | 0.1713 | -8 | c.16+ others(23): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
| ATOSB_chr9_35099117_35120862 | 35113629 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00621.hp1 others(112): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0033others(44): Show | 115 | 432 | 0.2662 | -8 | c.-22 others(27): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25714965 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(112): Show |
a0001a0002a0003others(29): Show | a0001c0001a0002c0002a0002c0022others(38): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(44): Show | a0001c0001t0001g0072a0001c0001t0001g0200a0001c0001t0001g0219others(112): Show | 115 | 300 | 0.3833 | -8 | c.177 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 9/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25721543 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01109.hp1 others(17): Show |
a0002a0003a0004others(7): Show | a0002c0002a0003c0064a0004c0004others(7): Show | a0002c0002t0001a0003c0064t0001a0004c0004t0001others(9): Show | a0002c0002t0001g0190a0003c0064t0001g0241a0004c0004t0001g0071others(17): Show | 20 | 300 | 0.0667 | -8 | c.136 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 7/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25747287 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01106.hp1 others(39): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0047a0002c0002others(15): Show | a0001c0001t0001a0001c0047t0001a0002c0002t0001others(17): Show | a0001c0001t0001g0009a0001c0001t0001g0115a0001c0001t0001g0138others(39): Show | 42 | 300 | 0.1400 | -8 | c.655 others(27): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25773818 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03453.hp2 HG03710.hp2 others(1): Show |
a0001a0002a0019others(1): Show | a0001c0001a0002c0002a0019c0029others(1): Show | a0001c0001t0001a0002c0002t0001a0019c0029t0001others(1): Show | a0001c0001t0001g0070a0002c0002t0001g0169a0019c0029t0001g0152others(1): Show | 4 | 300 | 0.0133 | -8 | c.654 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25779845 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(79): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0014a0001c0019others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(29): Show | a0001c0001t0001g0047a0001c0001t0001g0063a0001c0001t0001g0070others(79): Show | 82 | 300 | 0.2733 | -8 | c.654 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25804076 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0014a0001c0019others(35): Show | a0001c0001t0001a0001c0014t0001a0001c0019t0001others(36): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0070others(56): Show | 59 | 300 | 0.1967 | -8 | c.450 others(27): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25825804 | GACATGCC others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02965.hp1 others(4): Show |
a0001a0002a0011others(3): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0192a0001c0014t0001g0069a0002c0002t0001g0217others(4): Show | 7 | 300 | 0.0233 | -8 | c.449 others(27): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02135.hp2 HG02630.hp2 others(19): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0019a0002c0002others(10): Show | a0001c0001t0001a0001c0019t0001a0002c0002t0001others(11): Show | a0001c0001t0001g0017a0001c0001t0001g0060a0001c0001t0001g0163others(19): Show | 22 | 300 | 0.0733 | -8 | c.449 others(27): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25855541 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01934.hp1 others(38): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0047a0002c0002others(20): Show | a0001c0001t0001a0001c0047t0001a0002c0002t0001others(20): Show | a0001c0001t0001g0179a0001c0001t0001g0183a0001c0001t0001g0185others(38): Show | 41 | 300 | 0.1367 | -8 | c.449 others(25): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160652430 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00738.hp2 others(39): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0052a0001c0001t0001g0060others(39): Show | 42 | 236 | 0.1780 | -8 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160653568 | CATATACA others(1): Show |
C | intron_variant | MODIFIER | HG01943.hp1 NA18982.hp1 |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0006 | a0002c0003t0005g0057a0002c0003t0006g0097 | 2 | 236 | 0.0085 | -8 | c.676 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160733688 | CACACATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00673.hp1 others(37): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0147a0001c0001t0001g0169a0001c0001t0001g0170others(37): Show | 40 | 236 | 0.1695 | -8 | c.-33 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160755814 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG01943.hp1 others(4): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0005a0002c0003t0006a0002c0004t0004others(2): Show | a0002c0003t0005g0057a0002c0003t0005g0128a0002c0003t0005g0190others(4): Show | 7 | 236 | 0.0297 | -8 | c.-33 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160766337 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01192.hp1 others(6): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0023a0001c0002t0010others(6): Show | a0001c0001t0002g0075a0001c0001t0023g0027a0001c0002t0010g0211others(6): Show | 9 | 236 | 0.0381 | -8 | c.-33 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160782438 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02083.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0006others(3): Show | a0001c0001t0003g0102a0001c0001t0008g0168a0001c0002t0006g0218others(3): Show | 6 | 236 | 0.0254 | -8 | c.-33 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160783590 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01168.hp2 HG01516.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0049others(7): Show | a0001c0001t0003g0071a0001c0001t0003g0093a0001c0001t0003g0095others(12): Show | 15 | 236 | 0.0636 | -8 | c.-33 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160787105 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01069.hp2 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(21): Show | a0001c0001t0001g0170a0001c0001t0001g0182a0001c0001t0003g0041others(43): Show | 46 | 236 | 0.1949 | -8 | c.-57 others(27): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160798744 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01943.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0051a0001c0002t0007a0001c0002t0011others(5): Show | a0001c0001t0051g0227a0001c0002t0007g0076a0001c0002t0007g0224others(7): Show | 10 | 236 | 0.0424 | -8 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160822983 | CATATACA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 |
a0002a0023 | a0002c0010a0023c0031 | a0002c0010t0004a0023c0031t0001 | a0002c0010t0004g0142a0023c0031t0001g0155 | 2 | 236 | 0.0085 | -8 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160822993 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01433.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0005others(8): Show | a0001c0001t0002g0020a0001c0001t0002g0126a0001c0001t0002g0198others(13): Show | 16 | 236 | 0.0678 | -8 | c.-57 others(29): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
| ATP10D_chr4_47480275_47598486 | 47509943 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02486.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0016a0002c0008a0004c0005others(1): Show | a0001c0016t0002a0002c0008t0001a0002c0008t0002others(2): Show | a0001c0016t0002g0309a0001c0016t0002g0310a0001c0016t0002g0311others(8): Show | 11 | 332 | 0.0331 | -8 | c.-37 others(25): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ATP10D_chr4_47480275_47598486 | 47528458 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01255.hp2 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0004others(8): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0001others(11): Show | a0001c0001t0003g0248a0001c0001t0004g0115a0002c0002t0001g0032others(15): Show | 18 | 332 | 0.0542 | -8 | c.776 others(25): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ATP10D_chr4_47480275_47598486 | 47572644 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18955.hp1 NA18963.hp1 others(1): Show |
a0003a0004a0007 | a0003c0004a0004c0005a0004c0067others(1): Show | a0003c0004t0006a0004c0005t0006a0004c0067t0007others(1): Show | a0003c0004t0006g0146a0004c0005t0006g0157a0004c0067t0007g0156others(1): Show | 4 | 332 | 0.0121 | -8 | c.324 others(25): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112710964 | GCCACCCA others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG02451.hp1 others(14): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0003others(8): Show | a0001c0001t0002g0050a0001c0002t0001g0032a0001c0004t0003g0034others(14): Show | 17 | 254 | 0.0669 | -8 | c.39+ others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112740146 | CTCTATAT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0013a0001c0002t0034 | a0001c0002t0004g0041a0001c0002t0013g0117a0001c0002t0034g0042 | 3 | 254 | 0.0118 | -8 | c.40- others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112740148 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp1 HG02970.hp2 others(1): Show |
a0001a0009 | a0001c0001a0001c0045a0009c0038 | a0001c0001t0023a0001c0045t0014a0009c0038t0069 | a0001c0001t0023g0157a0001c0001t0023g0158a0001c0045t0014g0254others(1): Show | 4 | 254 | 0.0158 | -8 | c.40- others(25): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112781042 | TGTTTGTT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0016 | a0001c0002t0014a0001c0016t0004 | a0001c0002t0014g0213a0001c0016t0004g0214a0001c0016t0004g0215 | 3 | 254 | 0.0118 | -8 | c.40- others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804044 | CCTCCTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0052others(23): Show | a0001c0001t0001g0068a0001c0001t0019g0142a0001c0001t0052g0176others(30): Show | 33 | 254 | 0.1299 | -8 | c.163 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804084 | TCCCCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01106.hp2 others(3): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0003c0012others(1): Show | a0001c0002t0032a0001c0004t0001a0001c0004t0003others(2): Show | a0001c0002t0032g0179a0001c0004t0001g0017a0001c0004t0001g0106others(3): Show | 6 | 254 | 0.0236 | -8 | c.163 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112804243 | GCCCTCCT others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02129.hp1 HG03041.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0002t0014a0001c0016t0004others(4): Show | a0001c0001t0001g0065a0001c0002t0014g0213a0001c0016t0004g0214others(5): Show | 8 | 254 | 0.0315 | -8 | c.163 others(23): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |