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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARD8_chr19_48203086_48260912 | 48214769 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(114): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0003a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0013a0001c0003t0023others(21): Show | a0001c0002t0001g0207a0001c0002t0001g0237a0001c0002t0001g0239others(99): Show | 117 | 362 | 0.3232 | -13 | c.134 others(30): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
CARD9_chr9_136358956_136378669 | 136359686 | TCTGGGCC others(6): Show |
T | downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 406 | 0.0025 | -13 | c.*46 others(24): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 4269 | chr9 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202989007 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(114): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0010 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(48): Show | a0001c0001t0002g0005a0001c0001t0002g0036a0001c0001t0002g0082others(111): Show | 117 | 334 | 0.3503 | -13 | c.*53 others(24): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 745 | chr2 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01256.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0037a0001c0002t0004a0001c0002t0007others(3): Show | a0001c0001t0037g0078a0001c0002t0004g0005a0001c0002t0004g0006others(22): Show | 32 | 470 | 0.0681 | -13 | c.*31 others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp2 HG02630.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0043a0001c0002t0005others(1): Show | a0001c0001t0003g0408a0001c0001t0043g0351a0001c0002t0005g0186others(10): Show | 13 | 470 | 0.0277 | -13 | c.281 others(30): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8861158 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01123.hp2 others(73): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(12): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0058others(65): Show | 76 | 470 | 0.1617 | -13 | c.-7- others(28): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 470 | 0.0021 | -13 | c.-7- others(28): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8867588 | ACCCTCAA others(6): Show |
A | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0438 | 1 | 470 | 0.0021 | -13 | c.-8+ others(28): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10873624 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19062.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0025a0001c0001t0035g0026 | 2 | 354 | 0.0057 | -13 | c.220 others(30): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10885851 | CCCACAGG others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02809.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0017a0003c0007t0017 | a0001c0001t0001g0065a0001c0001t0001g0071a0001c0001t0001g0108others(3): Show | 6 | 354 | 0.0170 | -13 | c.220 others(32): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10888179 | TAGCACCA others(6): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0258 | 1 | 354 | 0.0028 | -13 | c.220 others(32): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10919078 | CCTCAGCC others(6): Show |
C | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0262 | 1 | 354 | 0.0028 | -13 | c.102 others(30): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25354330 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02083.hp1 others(13): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0019others(11): Show | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0015g0184others(13): Show | 16 | 186 | 0.0860 | -13 | c.139 others(32): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450975 | TCCTCTCC others(6): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0170 | 1 | 186 | 0.0054 | -13 | c.614 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25539625 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0146 | 1 | 186 | 0.0054 | -13 | c.219 others(30): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL2_chr16_67640144_67662569 | 67643611 | ATAATAAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0028 | 5 | 282 | 0.0177 | -13 | c.-16 others(24): Show |
CARMIL2 | ENSG00000159753.15 | transcript | ENST00000334583.11 | protein_coding | 1532 | chr16 | TogoVar | ||||||
CARNMT1_chr9_74975790_75033293 | 74979790 | AGCGTATT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0049a0001c0001t0001g0204a0001c0001t0005g0203 | 3 | 366 | 0.0082 | -13 | c.*39 others(24): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 999 | chr9 | TogoVar | ||||||
CARNMT1_chr9_74975790_75033293 | 75009060 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 366 | 0.0027 | -13 | c.590 others(30): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
CARNS1_chr11_67410678_67430604 | 67422171 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(23): Show |
a0001 | a0001c0003a0001c0023 | a0001c0003t0006a0001c0003t0009a0001c0003t0012others(8): Show | a0001c0003t0006g0003a0001c0003t0009g0003a0001c0003t0012g0003others(10): Show | 26 | 346 | 0.0751 | -13 | c.162 others(30): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CARS2_chr13_110636417_110711116 | 110709082 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0278 | 1 | 372 | 0.0027 | -13 | c.-30 others(24): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 2967 | chr13 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40173822 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0232a0001c0001t0001g0233others(10): Show | 14 | 266 | 0.0526 | -13 | c.*34 others(24): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 1652 | chr17 | TogoVar | ||||||
CASKIN1_chr16_2172180_2201605 | 2176805 | GCCCACCC others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02300.hp2 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0103 | 1 | 350 | 0.0029 | -13 | c.*17 others(24): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 374 | chr16 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41637378 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 164 | 0.0061 | -13 | c.832 others(28): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 8/26 | chrX | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705994 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18963.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0017 | 2 | 416 | 0.0048 | -13 | c.-26 others(24): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2550 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705996 | AAAAAAAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02451.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 2 | 416 | 0.0048 | -13 | c.-26 others(24): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2552 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705998 | AAAAATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 416 | 0.0024 | -13 | c.-26 others(24): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2554 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706000 | AAATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 HG03225.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034a0001c0002t0001g0075 | 3 | 416 | 0.0072 | -13 | c.-26 others(24): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2556 | chr4 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201279192 | CTGATTCA others(6): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0245a0001c0001t0004g0246a0001c0001t0004g0266 | 3 | 386 | 0.0078 | -13 | c.802 others(30): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15526302 | GATTCTCT others(6): Show |
G | upstream_gene_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0049 | 1 | 350 | 0.0029 | -13 | c.-21 others(24): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 2088 | chr1 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15527170 | GGCTTAGA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp1 NA20300.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0121a0002c0001t0001g0122 | 2 | 350 | 0.0057 | -13 | c.-29 others(24): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 2956 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115755334 | TAGTCCCT others(6): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01884.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(7): Show | a0001c0001t0002g0053a0001c0001t0002g0060a0001c0001t0002g0063others(25): Show | 28 | 364 | 0.0769 | -13 | c.235 others(32): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960682 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 | 1 | 228 | 0.0044 | -13 | c.-43 others(24): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4022 | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96672895 | AAAGTTGT others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0021a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0253a0001c0001t0001g0261a0001c0001t0001g0263others(17): Show | 21 | 358 | 0.0587 | -13 | c.76- others(28): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96674408 | CATTTTAT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0301 | 1 | 358 | 0.0028 | -13 | c.76- others(28): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96680370 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01192.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0261a0001c0001t0001g0263a0001c0001t0002g0262others(7): Show | 11 | 358 | 0.0307 | -13 | c.138 others(30): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96752550 | ATAACCTC others(6): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG02109.hp2 HG02258.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0079a0001c0001t0001g0160a0001c0001t0001g0169others(17): Show | 21 | 358 | 0.0587 | -13 | c.152 others(32): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10694680 | TCGCGCCC others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG02451.hp2 others(3): Show |
a0001a0003a0007others(2): Show | a0001c0003a0003c0007a0007c0038others(2): Show | a0001c0003t0002a0003c0007t0009a0007c0038t0009others(2): Show | a0001c0003t0002g0053a0003c0007t0009g0127a0003c0007t0009g0176others(3): Show | 6 | 236 | 0.0254 | -13 | c.-23 others(28): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CATSPER1_chr11_66011752_66031479 | 66020476 | ACCAGGGT others(6): Show |
A | intron_variant | MODIFIER | NA19003.hp2 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0134 | 1 | 408 | 0.0025 | -13 | c.199 others(28): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 7/11 | chr11 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91578236 | GCCCCCCC others(6): Show |
G | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0159 | 1 | 271 | 0.0037 | -13 | c.*26 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 2461 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91626359 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02622.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0010 | a0001c0001t0001a0003c0004t0001a0004c0010t0001 | a0001c0001t0001g0112a0001c0001t0001g0118a0001c0001t0001g0119others(3): Show | 6 | 271 | 0.0221 | -13 | c.174 others(32): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 17/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91652670 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01169.hp2 others(31): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0075a0001c0001t0001g0077others(31): Show | 34 | 271 | 0.1255 | -13 | c.143 others(32): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5715643 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 336 | 0.0030 | -13 | c.-50 others(24): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5751531 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02451.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0040a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0040t0001others(6): Show | a0001c0001t0001g0054a0001c0001t0001g0060a0001c0001t0001g0062others(12): Show | 15 | 336 | 0.0446 | -13 | c.988 others(26): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5762048 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02897.hp1 |
a0014a0027 | a0014c0017a0027c0036 | a0014c0017t0002a0027c0036t0001 | a0014c0017t0002g0224a0027c0036t0001g0297 | 2 | 336 | 0.0060 | -13 | c.142 others(32): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 336 | 0.0030 | -13 | c.*38 others(22): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 206 | 0.0049 | -13 | c.327 others(28): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244510835 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0158 | 1 | 206 | 0.0049 | -13 | c.430 others(30): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244553601 | ATACACAC others(6): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03471.hp1 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0088a0006c0010t0001g0138 | 2 | 206 | 0.0097 | -13 | c.102 others(30): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | chr1 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555476 | GAGGAAAG others(6): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 NA18940.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0127a0001c0001t0003g0128a0001c0001t0003g0134others(7): Show | 10 | 342 | 0.0292 | -13 | c.196 others(30): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAVIN1_chr17_42397449_42428256 | 42410892 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(77): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0023others(69): Show | 80 | 338 | 0.2367 | -13 | c.472 others(30): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar |