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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASP9_chr1_15486401_15529215 | 15489225 | G | GTCCCAGC others(9): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG01952.hp2 HG01978.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 a0002c0001t0001g0059 a0002c0001t0001g0097 |
5 | 348 | 0.0144 | 16 | c.*37 others(27): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 2175 | chr1 | TogoVar | |||||||
CASQ1_chr1_160185575_160206886 | 160186086 | C | CAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01081.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
28 | 122 | 0.2295 | 16 | c.-46 others(27): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 4488 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115723293 | A | ATATCTAT others(9): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0312 | 1 | 352 | 0.0028 | 16 | c.783 others(33): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115723305 | T | TTATCTAT others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00639.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(9): Show | a0001c0001t0002g0004 a0001c0001t0002g0082 a0001c0001t0002g0083 others(43): Show |
47 | 145 | 0.3241 | 16 | c.783 others(33): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761528 | A | AGAAGAAG others(9): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0289 | 1 | 239 | 0.0042 | 16 | c.234 others(33): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115773576 | G | GTTTTAAC others(9): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0011 | 1 | 362 | 0.0028 | 16 | c.-50 others(27): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4863 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252362 | A | AGAAGGAA others(9): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 227 | 0.0044 | 16 | c.-24 others(35): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02074.hp1 HG02723.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0003g0088 others(3): Show |
7 | 45 | 0.1556 | 16 | c.-24 others(35): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAAAA others(9): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG02040.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0050 a0001c0001t0001g0079 a0001c0001t0001g0239 others(7): Show |
10 | 48 | 0.2083 | 16 | c.-24 others(35): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02109.hp1 HG03704.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(5): Show | a0001c0001t0001g0040 a0001c0001t0006g0254 a0001c0007t0001g0271 others(7): Show |
10 | 48 | 0.2083 | 16 | c.-24 others(35): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19009.hp1 |
a0002a0008 | a0002c0002a0008c0014 | a0002c0002t0002a0008c0014t0002 | a0002c0002t0002g0223 a0008c0014t0002g0220 |
2 | 40 | 0.0500 | 16 | c.-24 others(35): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGTAGGA others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0007a0003c0005t0011 | a0001c0001t0007g0110 a0003c0005t0011g0229 |
2 | 40 | 0.0500 | 16 | c.-24 others(35): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CASS4_chr20_56407260_56465382 | 56443469 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01169.hp2 HG02300.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0085 a0001c0001t0001g0176 a0002c0003t0001g0002 others(18): Show |
27 | 236 | 0.1144 | 16 | c.460 others(33): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960681 | A | AAAATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0074 | a0001c0001t0053g0021 a0001c0001t0074g0008 |
2 | 172 | 0.0116 | 16 | c.-43 others(27): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4023 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74965905 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 77 | 0.0130 | 16 | c.113 others(31): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75026189 | G | GTTTTTTT others(9): Show |
3_prime_UTR_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0022 | 1 | 142 | 0.0070 | 16 | c.*14 others(27): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 9/9 | 1508 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96680354 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02258.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0127 a0001c0001t0002g0056 |
3 | 238 | 0.0126 | 16 | c.138 others(33): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96696686 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01192.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0143 a0001c0001t0001g0258 a0001c0001t0002g0257 others(17): Show |
21 | 135 | 0.1556 | 16 | c.210 others(31): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96776223 | T | TAGCCCAT others(9): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00639.hp1 others(49): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0002t0003a0002c0003t0003others(3): Show | a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0002t0003g0221 others(46): Show |
52 | 356 | 0.1461 | 16 | c.*36 others(27): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1541 | chr5 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10700080 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02615.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0013g0043 a0001c0001t0014g0224 a0001c0002t0001g0076 others(3): Show |
6 | 108 | 0.0556 | 16 | c.-24 others(33): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10741790 | T | TTATATTT others(9): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18612.hp2 NA18747.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0002 | a0001c0001t0001g0097 a0001c0001t0001g0190 a0001c0002t0001g0125 others(1): Show |
4 | 232 | 0.0172 | 16 | c.-77 others(35): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10765495 | C | CACGGCCC others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001a0005 | a0001c0002a0005c0017 | a0001c0002t0001a0005c0017t0041 | a0001c0002t0001g0082 a0005c0017t0041g0083 |
2 | 234 | 0.0085 | 16 | c.-23 others(35): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01123.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0026 a0001c0001t0001g0097 a0001c0001t0001g0098 others(12): Show |
20 | 40 | 0.5000 | 16 | c.118 others(30): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218359341 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
2 | 165 | 0.0121 | 16 | c.376 others(33): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0009 | a0001c0001t0002g0192 a0001c0001t0002g0201 a0001c0001t0002g0202 others(1): Show |
4 | 209 | 0.0191 | 16 | c.842 others(31): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26199598 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01069.hp1 others(25): Show |
a0003a0005a0007 | a0003c0004a0003c0006a0005c0008others(1): Show | a0003c0004t0001a0003c0004t0002a0003c0006t0001others(3): Show | a0003c0004t0001g0009 a0003c0004t0001g0015 a0003c0004t0001g0027 others(16): Show |
28 | 378 | 0.0741 | 16 | c.813 others(31): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26206481 | A | AAAAGAAA others(9): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 193 | 0.0052 | 16 | c.*39 others(27): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3518 | chr1 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26207777 | A | AAAAGAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 171 | 0.0058 | 16 | c.*52 others(27): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4814 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91586561 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0004 | a0001c0001t0001g0001 a0001c0002t0001g0177 a0003c0004t0004g0002 others(1): Show |
5 | 262 | 0.0191 | 16 | c.313 others(33): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91586563 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03209.hp2 HG03927.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0010 | a0001c0001t0001a0002c0003t0001a0006c0010t0001 | a0001c0001t0001g0113 a0001c0001t0001g0159 a0001c0001t0001g0190 others(3): Show |
6 | 128 | 0.0469 | 16 | c.313 others(33): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91586571 | A | AAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 19 | 0.0526 | 16 | c.313 others(33): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91587477 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0178 others(1): Show |
4 | 14 | 0.2857 | 16 | c.305 others(33): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 25/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91612012 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0200 a0001c0001t0002g0034 a0001c0002t0001g0162 others(4): Show |
7 | 172 | 0.0407 | 16 | c.240 others(35): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91661524 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02015.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0173 a0001c0001t0001g0189 |
3 | 43 | 0.0698 | 16 | c.128 others(35): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736497 | A | AAAGGAAG others(9): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 270 | 0.0037 | 16 | c.-45 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4412 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736501 | A | AAAGGAAG others(9): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG03927.hp1 HG06807.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0002t0002g0137 others(3): Show |
6 | 143 | 0.0420 | 16 | c.-45 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4416 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91736526 | A | AAGGAAGG others(9): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(3): Show |
6 | 213 | 0.0282 | 16 | c.-45 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4441 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716253 | A | AATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 324 | 0.0031 | 16 | c.-44 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4383 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | C | CATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02559.hp2 others(12): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0004a0003c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0003c0004t0001others(6): Show | a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0147 others(12): Show |
15 | 61 | 0.2459 | 16 | c.-44 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5730561 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01258.hp1 NA19091.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0201 a0002c0002t0001g0202 a0003c0004t0001g0246 |
3 | 83 | 0.0361 | 16 | c.276 others(31): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5735607 | G | GGACTACA others(9): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0129 | 1 | 334 | 0.0030 | 16 | c.392 others(33): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5741785 | C | CGGGGGGG others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19074.hp2 NA20752.hp2 |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0003c0004t0001a0004c0003t0003 | a0001c0001t0001g0045 a0003c0004t0001g0098 a0004c0003t0003g0114 |
3 | 75 | 0.0400 | 16 | c.573 others(33): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5750450 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0214 | 1 | 67 | 0.0149 | 16 | c.988 others(33): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5751531 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 13 | 0.0769 | 16 | c.988 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762041 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18983.hp1 NA18990.hp2 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0062 a0004c0003t0001g0245 a0004c0003t0001g0248 |
3 | 332 | 0.0090 | 16 | c.142 others(35): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19074.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0085 a0004c0003t0003g0114 |
2 | 47 | 0.0426 | 16 | c.142 others(35): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 46 | 0.0217 | 16 | c.142 others(35): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244528785 | C | CCACGCAC others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 96 | 0.0104 | 16 | c.536 others(35): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244553602 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0011 | a0011c0014 | a0011c0014t0004 | a0011c0014t0004g0161 | 1 | 24 | 0.0417 | 16 | c.102 others(33): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244553614 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0133 | 1 | 201 | 0.0050 | 16 | c.102 others(33): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |