view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX7_chr8_10718768_10735511 | 10735243 | TCACACA | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00733.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0075 others(18): Show |
53 | 462 | 0.1147 | -6 | c.-48 others(17): Show |
SOX7 | ENSG00000171056.8 | transcript | ENST00000304501.2 | protein_coding | 4733 | chr8 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 978097 | GGACACA | G | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02451.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0005a0001c0002t0014a0001c0002t0035others(2): Show | a0001c0002t0005g0003 a0001c0002t0014g0003 a0001c0002t0014g0023 others(3): Show |
10 | 434 | 0.0230 | -6 | c.-38 others(17): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 3672 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981299 | TGTGTGA | T | upstream_gene_variant | MODIFIER | HG02698.hp1 HG03209.hp2 HG03834.hp1 others(7): Show |
a0001a0002a0005 | a0001c0003a0002c0013a0005c0022 | a0001c0003t0002a0001c0003t0010a0001c0003t0046others(3): Show | a0001c0003t0002g0002 a0001c0003t0002g0004 a0001c0003t0010g0002 others(4): Show |
10 | 434 | 0.0230 | -6 | c.-62 others(15): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 470 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981303 | TGAGAGA | T | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01358.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0002t0003a0001c0014t0012 | a0001c0001t0001g0001 a0001c0002t0003g0003 a0001c0002t0003g0040 others(2): Show |
7 | 434 | 0.0161 | -6 | c.-61 others(15): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 466 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981343 | AGAGAGT | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02083.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0040 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0002t0003g0003 others(1): Show |
4 | 434 | 0.0092 | -6 | c.-57 others(15): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 426 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981345 | AGAGTGT | A | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02976.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0005others(2): Show | a0001c0001t0001g0033 a0001c0001t0006g0006 a0001c0002t0005g0003 others(2): Show |
5 | 434 | 0.0115 | -6 | c.-57 others(15): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 424 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981347 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01255.hp1 others(56): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0042others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0006g0006 others(19): Show |
59 | 434 | 0.1359 | -6 | c.-57 others(15): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 422 | chr16 | TogoVar | |||||||
SOX9_chr17_72116020_72131416 | 72120683 | GCACACA | G | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01256.hp2 HG01361.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0022 | a0001c0001t0005g0001 a0001c0001t0015g0001 a0001c0001t0022g0001 |
22 | 402 | 0.0547 | -6 | c.-70 others(15): Show |
SOX9 | ENSG00000125398.8 | transcript | ENST00000245479.3 | protein_coding | 336 | chr17 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230506782 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0003g0028 a0001c0001t0003g0072 a0001c0001t0003g0076 others(51): Show |
54 | 290 | 0.1862 | -6 | c.201 others(23): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230508917 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(142): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(142): Show |
145 | 290 | 0.5000 | -6 | c.205 others(23): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230508942 | CACACAT | C | intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG02723.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0008 | a0001c0001t0004a0001c0007t0014a0005c0008t0014 | a0001c0001t0004g0048 a0001c0007t0014g0029 a0001c0007t0014g0031 others(2): Show |
5 | 290 | 0.0172 | -6 | c.205 others(23): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230199148 | ATTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(79): Show |
a0001a0004a0005others(8): Show | a0001c0001a0001c0007a0001c0034others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(45): Show | a0001c0001t0001g0158 a0001c0001t0001g0269 a0001c0001t0001g0270 others(75): Show |
82 | 428 | 0.1916 | -6 | c.112 others(25): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 10/18 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230206595 | TTATATA | T | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG02622.hp2 others(9): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0004a0005c0006others(2): Show | a0001c0001t0002a0001c0001t0021a0001c0001t0071others(5): Show | a0001c0001t0002g0235 a0001c0001t0002g0268 a0001c0001t0021g0234 others(8): Show |
12 | 428 | 0.0280 | -6 | c.898 others(23): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230381711 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0013others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0001g0247 a0001c0001t0001g0248 a0002c0002t0001g0124 others(7): Show |
10 | 336 | 0.0298 | -6 | c.638 others(23): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307955 | GTATATA | G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01106.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0003 | a0001c0001t0001a0001c0011t0001a0004c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show |
12 | 370 | 0.0324 | -6 | c.205 others(25): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307986 | TATATAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG02056.hp1 others(20): Show |
a0001a0004 | a0001c0001a0001c0016a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0016t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0082 a0001c0001t0001g0126 others(19): Show |
23 | 370 | 0.0622 | -6 | c.205 others(25): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307988 | TATACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02622.hp2 others(3): Show |
a0001a0004a0006 | a0001c0001a0004c0003a0006c0009 | a0001c0001t0001a0004c0003t0001a0006c0009t0002 | a0001c0001t0001g0065 a0001c0001t0001g0172 a0004c0003t0001g0269 others(3): Show |
6 | 370 | 0.0162 | -6 | c.205 others(25): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53394409 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(94): Show |
a0001a0002a0006 | a0001c0002a0002c0004a0006c0007 | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(23): Show | a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0013 others(91): Show |
97 | 326 | 0.2976 | -6 | c.167 others(27): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53412930 | CTGTGTG | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01070.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0001t0071a0001c0001t0072others(3): Show | a0001c0001t0045g0007 a0001c0001t0071g0184 a0001c0001t0072g0185 others(13): Show |
16 | 326 | 0.0491 | -6 | c.*17 others(17): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 6/6 | 1722 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SP2_chr17_47891236_47933957 | 47925905 | CTTTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0005t0001a0001c0011t0001 | a0001c0001t0001g0007 a0001c0001t0001g0165 a0001c0001t0001g0174 others(8): Show |
18 | 366 | 0.0492 | -6 | c.174 others(23): Show |
SP2 | ENSG00000167182.16 | transcript | ENST00000376741.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173923757 | ATTTGAT | A | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01123.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022a0001c0001t0032others(10): Show | a0001c0001t0011g0015 a0001c0001t0011g0043 a0001c0001t0011g0052 others(19): Show |
22 | 356 | 0.0618 | -6 | c.164 others(25): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP3_chr2_173895775_173970373 | 173948761 | AATAATT | A | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01106.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0034a0001c0001t0054others(4): Show | a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0020 others(21): Show |
24 | 356 | 0.0674 | -6 | c.163 others(25): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21445988 | ATGTGTG | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01069.hp1 others(50): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 others(46): Show |
53 | 426 | 0.1244 | -6 | c.167 others(27): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21487759 | ATGATGG | A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0301 a0001c0001t0003g0018 a0001c0001t0007g0006 others(58): Show |
64 | 426 | 0.1502 | -6 | c.210 others(25): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21487762 | ATGGTGG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(198): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0114 a0001c0001t0001g0133 others(191): Show |
201 | 426 | 0.4718 | -6 | c.210 others(25): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP7_chr12_53321575_53341354 | 53334331 | TACACAC | T | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01167.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0050 others(2): Show |
20 | 370 | 0.0541 | -6 | c.21+ others(21): Show |
SP7 | ENSG00000170374.6 | transcript | ENST00000536324.4 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
SP7_chr12_53321575_53341354 | 53337969 | AAACAAC | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0021 a0001c0001t0012g0054 |
4 | 370 | 0.0108 | -6 | c.-18 others(17): Show |
SP7 | ENSG00000170374.6 | transcript | ENST00000536324.4 | protein_coding | 1616 | chr12 | TogoVar | |||||||
SP7_chr12_53321575_53341354 | 53338106 | CGGAGGA | C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02145.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0028 a0001c0001t0004g0057 a0001c0001t0004g0058 others(1): Show |
6 | 370 | 0.0162 | -6 | c.-20 others(17): Show |
SP7 | ENSG00000170374.6 | transcript | ENST00000536324.4 | protein_coding | 1753 | chr12 | TogoVar | |||||||
SPA17_chr11_124668904_124702518 | 124671367 | AAATAAT | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 a0001c0001t0005g0023 a0001c0001t0005g0126 others(2): Show |
13 | 356 | 0.0365 | -6 | c.-26 others(17): Show |
SPA17 | ENSG00000064199.7 | transcript | ENST00000227135.7 | protein_coding | 2536 | chr11 | TogoVar | |||||||
SPACA3_chr17_32986847_33002877 | 32991593 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp2 others(47): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(40): Show |
50 | 470 | 0.1064 | -6 | c.-34 others(15): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 253 | chr17 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602825 | TTTATTA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(98): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0000 a0002c0003t0001g0000 a0003c0004t0001g0000 |
101 | 392 | 0.2577 | -6 | c.-41 others(17): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 3916 | chr19 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383131 | AAGAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 others(2): Show |
5 | 391 | 0.0128 | -6 | c.94+ others(21): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112433857 | GTGCCAC | G | intron_variant | MODIFIER | HG02132.hp1 HG03669.hp1 NA18950.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 a0002c0002t0001g0202 a0002c0002t0001g0241 others(2): Show |
5 | 391 | 0.0128 | -6 | c.524 others(21): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACDR_chr7_100451620_100469260 | 100457799 | ATATATG | A | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0002g0303 a0001c0001t0002g0304 |
3 | 350 | 0.0086 | -6 | c.388 others(21): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPACDR_chr7_100451620_100469260 | 100458195 | GGTGTGT | G | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00673.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0052 a0001c0001t0001g0072 others(21): Show |
28 | 350 | 0.0800 | -6 | c.388 others(23): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPAG11A_chr8_7843008_7865943 | 7863213 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(15): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0005 | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0010 others(10): Show |
18 | 131 | 0.1374 | -6 | c.*23 others(17): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2271 | chr8 | TogoVar | |||||||
SPAG11B_chr8_7445603_7468542 | 7448302 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01258.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(10): Show |
16 | 205 | 0.0781 | -6 | c.*24 others(17): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 2300 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213291167 | TTAATCA | T | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG03225.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0071 a0001c0001t0002g0072 a0002c0002t0002g0073 others(3): Show |
6 | 86 | 0.0698 | -6 | c.137 others(23): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213310319 | AACACAC | A | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp2 HG01891.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0069 a0003c0003t0001g0055 others(6): Show |
9 | 86 | 0.1047 | -6 | c.398 others(21): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213377879 | GTGTATA | G | intron_variant | MODIFIER | HG01891.hp2 HG03239.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | 86 | 0.0349 | -6 | c.942 others(23): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213407596 | GGAGAGA | G | intron_variant | MODIFIER | HG01256.hp1 HG01891.hp1 HG02109.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0003others(2): Show | a0001c0001t0002g0008 a0002c0002t0001g0076 a0003c0003t0003g0019 others(5): Show |
8 | 86 | 0.0930 | -6 | c.942 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213426754 | GGTGTGT | G | intron_variant | MODIFIER | HG02293.hp1 HG02717.hp2 HG02886.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0071 others(11): Show |
14 | 86 | 0.1628 | -6 | c.942 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213468498 | TATATAG | T | intron_variant | MODIFIER | HG03209.hp1 NA19043.hp2 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0018 a0005c0005t0001g0017 |
2 | 86 | 0.0233 | -6 | c.943 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213588808 | CAAAAAA | C | intron_variant | MODIFIER | HG03195.hp2 HG03225.hp2 NA18522.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0002c0002t0001a0006c0006t0001 | a0001c0001t0002g0007 a0001c0001t0002g0009 a0002c0002t0001g0011 others(1): Show |
4 | 86 | 0.0465 | -6 | c.107 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213643348 | TTATATA | T | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0014 a0005c0005t0001g0081 |
2 | 86 | 0.0233 | -6 | c.107 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213678326 | AGGAGCT | A | intron_variant | MODIFIER | HG02293.hp1 HG02559.hp1 HG02717.hp2 others(8): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0002g0006 a0001c0001t0002g0007 others(8): Show |
11 | 86 | 0.1279 | -6 | c.107 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213705786 | TTTGTTG | T | intron_variant | MODIFIER | HG02293.hp1 HG02559.hp1 HG02717.hp2 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0071 others(15): Show |
18 | 86 | 0.2093 | -6 | c.107 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213761892 | CAAAACA | C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(31): Show |
34 | 86 | 0.3954 | -6 | c.107 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213825701 | CTTTTTT | C | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 HG01496.hp1 others(18): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0002g0067 others(18): Show |
21 | 86 | 0.2442 | -6 | c.107 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213860342 | GATATAT | G | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 a0002c0002t0001g0077 |
2 | 86 | 0.0233 | -6 | c.107 others(25): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |