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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTDSP2_chr12_57814927_57851729 | 57818182 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 346 | 0.0029 | 23 | c.*53 others(34): Show |
CTDSP2 | ENSG00000175215.11 | transcript | ENST00000398073.7 | protein_coding | 1744 | chr12 | TogoVar | ||||||
CTH_chr1_70406268_70444851 | 70443051 | C | CCTTAATA others(16): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 424 | 0.0024 | 23 | c.*39 others(34): Show |
CTH | ENSG00000116761.12 | transcript | ENST00000370938.8 | protein_coding | 3201 | chr1 | TogoVar | ||||||
CTNNA1_chr5_138748425_138940034 | 138825482 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 180 | 0.0056 | 23 | c.858 others(38): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138858595 | T | TTTTTCTT others(16): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01243.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004a0001c0002t0003g0032a0001c0002t0003g0033others(6): Show | 9 | 180 | 0.0500 | 23 | c.106 others(44): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79860546 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 68 | 0.0147 | 23 | c.465 others(40): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80306400 | T | TTTTCTTT others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0002t0001g0022 | 2 | 68 | 0.0294 | 23 | c.105 others(44): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80569633 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0008 | a0001c0001t0001a0001c0007t0001a0002c0008t0001 | a0001c0001t0001g0028a0001c0001t0001g0046a0001c0001t0001g0052others(2): Show | 5 | 68 | 0.0735 | 23 | c.174 others(42): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA3_chr10_65907523_67701195 | 66021852 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0033 | 1 | 46 | 0.0217 | 23 | c.216 others(44): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66508210 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 46 | 0.0217 | 23 | c.153 others(44): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66508211 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031 | 1 | 46 | 0.0217 | 23 | c.153 others(44): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67072887 | T | TGCCTTTT others(16): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01081.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0002g0024others(32): Show | 35 | 46 | 0.7609 | 23 | c.104 others(46): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11470980 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 26 | 0.0385 | 23 | c.288 others(42): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11470980 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 26 | 0.0385 | 23 | c.288 others(42): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0277 | 1 | 372 | 0.0027 | 23 | c.61+ others(38): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19084.hp2 |
a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0279a0002c0002t0019g0284 | 2 | 372 | 0.0054 | 23 | c.61+ others(38): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0117 | 1 | 372 | 0.0027 | 23 | c.61+ others(38): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0258 | 1 | 372 | 0.0027 | 23 | c.61+ others(38): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3641385 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01109.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0011a0001c0001t0061others(2): Show | a0001c0001t0001g0127a0001c0001t0001g0131a0001c0001t0001g0137others(6): Show | 9 | 372 | 0.0242 | 23 | c.61+ others(38): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
CTR9_chr11_10746246_10784746 | 10747401 | A | AAATATAA others(16): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 406 | 0.0025 | 23 | c.-40 others(34): Show |
CTR9 | ENSG00000198730.9 | transcript | ENST00000361367.7 | protein_coding | 3844 | chr11 | TogoVar | ||||||
CTSC_chr11_88288592_88342736 | 88291565 | G | GATGAAAG others(16): Show |
downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 434 | 0.0023 | 23 | c.*24 others(34): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2026 | chr11 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATAGATTA others(16): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0194 | 2 | 344 | 0.0058 | 23 | c.896 others(40): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATATATTA others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01358.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0143others(31): Show | 38 | 344 | 0.1105 | 23 | c.896 others(40): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTTNBP2_chr7_117705651_117878441 | 117817361 | A | ATAAATAA others(16): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 164 | 0.0061 | 23 | c.190 others(40): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 2/22 | chr7 | TogoVar | ||||||
CTTNBP2_chr7_117705651_117878441 | 117817361 | A | ATAAATAT others(16): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 164 | 0.0061 | 23 | c.190 others(40): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 2/22 | chr7 | TogoVar | ||||||
CTTNBP2_chr7_117705651_117878441 | 117817361 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01993.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0051others(3): Show | 6 | 164 | 0.0366 | 23 | c.190 others(40): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 2/22 | chr7 | TogoVar | ||||||
CTTNBP2_chr7_117705651_117878441 | 117871875 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 164 | 0.0061 | 23 | c.81+ others(38): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
CTU1_chr19_51092606_51113409 | 51109240 | A | AAAACTGA others(16): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0131 | 1 | 454 | 0.0022 | 23 | c.-91 others(32): Show |
CTU1 | ENSG00000142544.7 | transcript | ENST00000421832.3 | protein_coding | 832 | chr19 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88702153 | C | CCCTCCTG others(16): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(365): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0013others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0016others(190): Show | 368 | 418 | 0.8804 | 23 | c.-43 others(34): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 4349 | chr16 | TogoVar | ||||||
CUBN_chr10_16818966_17134811 | 16889935 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0062 | a0062c0107 | a0062c0107t0008 | a0062c0107t0008g0017 | 1 | 192 | 0.0052 | 23 | c.875 others(40): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 55/66 | chr10 | TogoVar | ||||||
CUBN_chr10_16818966_17134811 | 16889953 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG03540.hp1 |
a0045a0072a0095 | a0045c0024a0072c0025a0095c0118 | a0045c0024t0001a0072c0025t0001a0095c0118t0001 | a0045c0024t0001g0064a0072c0025t0001g0101a0095c0118t0001g0181 | 3 | 192 | 0.0156 | 23 | c.875 others(40): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 55/66 | chr10 | TogoVar | ||||||
CUL1_chr7_148693903_148806110 | 148778070 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 338 | 0.0030 | 23 | c.108 others(42): Show |
CUL1 | ENSG00000055130.18 | transcript | ENST00000325222.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113209498 | C | CGGGCACG others(16): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 396 | 0.0025 | 23 | c.-13 others(32): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 114 | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113260203 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00733.hp1 others(49): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0175a0001c0001t0001g0190a0001c0001t0001g0236others(48): Show | 52 | 396 | 0.1313 | 23 | c.203 others(40): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL7_chr6_43032617_43058851 | 43042902 | G | GAGTTCTG others(16): Show |
frameshift_variant | HIGH | HG03486.hp2 | a0014 | a0014c0021 | a0014c0021t0001 | a0014c0021t0001g0060 | 1 | 302 | 0.0033 | 23 | c.352 others(32): Show |
p.Ser others(6): Show |
CUL7 | ENSG00000044090.13 | transcript | ENST00000265348.9 | protein_coding | 19/26 | 3782/5406 | 3544/5097 | 1182/1698 | chr6 | TogoVar | ||
CUL9_chr6_43177196_43229587 | 43177228 | G | GTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0087 | 1 | 276 | 0.0036 | 23 | c.-50 others(34): Show |
CUL9 | ENSG00000112659.14 | transcript | ENST00000252050.9 | protein_coding | 4967 | chr6 | TogoVar | ||||||
CUX1_chr7_101811007_102288958 | 102030691 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0124a0001c0001t0001g0127 | 3 | 132 | 0.0227 | 23 | c.222 others(40): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CUX1_chr7_101811007_102288958 | 102046569 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0071 | 1 | 132 | 0.0076 | 23 | c.222 others(42): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CUX1_chr7_101812626_102263233 | 102030691 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG03540.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0031a0001c0003t0004g0034a0001c0003t0004g0125 | 3 | 136 | 0.0221 | 23 | c.189 others(40): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CUX1_chr7_101812626_102263233 | 102046569 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0028 | 1 | 136 | 0.0074 | 23 | c.189 others(42): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111134649 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 100 | 0.0100 | 23 | c.64- others(40): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 1/21 | chr12 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111328975 | C | CTCTCTCT others(16): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02970.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0001a0002c0006t0001 | a0001c0003t0001g0014a0002c0006t0001g0053 | 2 | 100 | 0.0200 | 23 | c.292 others(42): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | chr12 | TogoVar | ||||||
CWH43_chr4_48981275_49067079 | 49039333 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 | 1 | 296 | 0.0034 | 23 | c.180 others(42): Show |
CWH43 | ENSG00000109182.12 | transcript | ENST00000226432.9 | protein_coding | 13/15 | chr4 | TogoVar | ||||||
CXADR_chr21_17508043_17575100 | 17563940 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0119 | 1 | 352 | 0.0028 | 23 | c.834 others(40): Show |
CXADR | ENSG00000154639.19 | transcript | ENST00000284878.12 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CXCL17_chr19_42423278_42447946 | 42438381 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 368 | 0.0027 | 23 | c.79+ others(38): Show |
CXCL17 | ENSG00000189377.9 | transcript | ENST00000601181.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
CYB561_chr17_63427304_63451306 | 63438456 | C | CCCCCGCC others(16): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 2 | 386 | 0.0052 | 23 | c.-13 others(38): Show |
CYB561 | ENSG00000008283.16 | transcript | ENST00000360793.8 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
CYB561_chr17_63427304_63451306 | 63451194 | T | TCCCGACG others(16): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0066 | 1 | 386 | 0.0026 | 23 | c.-49 others(34): Show |
CYB561 | ENSG00000008283.16 | transcript | ENST00000360793.8 | protein_coding | 4889 | chr17 | TogoVar | ||||||
CYB5R3_chr22_42612840_42654392 | 42638728 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0192a0001c0001t0006g0193 | 2 | 360 | 0.0056 | 23 | c.22- others(38): Show |
CYB5R3 | ENSG00000100243.22 | transcript | ENST00000352397.10 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
CYB5R4_chr6_83854689_83972423 | 83910137 | C | CTCAGCCT others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0013 | a0001c0001t0007g0090a0001c0001t0007g0091a0001c0001t0010g0070others(6): Show | 9 | 228 | 0.0395 | 23 | c.412 others(40): Show |
CYB5R4 | ENSG00000065615.14 | transcript | ENST00000369681.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CYFIP2_chr5_157261123_157400594 | 157393545 | C | CTGGCTTC others(16): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0305a0001c0001t0005g0306a0001c0001t0005g0307others(16): Show | 19 | 326 | 0.0583 | 23 | c.*54 others(32): Show |
CYFIP2 | ENSG00000055163.21 | transcript | ENST00000620254.5 | protein_coding | 31/31 | 546 | chr5 | TogoVar | |||||
CYLD_chr16_50737086_50806935 | 50761751 | T | TATCTATC others(16): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 302 | 0.0033 | 23 | c.913 others(40): Show |
CYLD | ENSG00000083799.18 | transcript | ENST00000427738.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |