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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D2_chr3_50357613_50508634 | 50367501 | G | A | splice_region_variant others(1): Show |
LOW | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 234 | 0.0043 | 0 | c.229 others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 26/37 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50377549 | C | G | splice_region_variant others(1): Show |
LOW | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0209 | 1 | 234 | 0.0043 | 0 | c.155 others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 16/37 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50476206 | G | A | splice_region_variant others(1): Show |
LOW | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0077 | 1 | 234 | 0.0043 | 0 | c.207 others(5): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54837152 | C | T | splice_region_variant others(1): Show |
LOW | HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0035 | 2 | 118 | 0.0170 | 0 | c.139 others(6): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54838647 | A | G | missense_variant others(1): Show |
MODERATE | HG01243.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0021 | 1 | 118 | 0.0085 | 0 | c.155 others(4): Show |
p.Lys others(6): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 16/38 | 1712/3789 | 1550/3276 | 517/1091 | chr3 | TogoVar | ||
CACNA2D3_chr3_54117552_55079557 | 54871541 | C | T | splice_region_variant others(1): Show |
LOW | HG02717.hp2 HG02965.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0013a0001c0024a0001c0025others(2): Show | a0001c0013t0001a0001c0024t0001a0001c0025t0004others(2): Show | a0001c0013t0001g0093a0001c0013t0001g0105a0001c0024t0001g0069others(3): Show | 6 | 118 | 0.0509 | 0 | c.162 others(4): Show |
p.Tyr others(6): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 18/38 | 1791/3789 | 1629/3276 | 543/1091 | chr3 | TogoVar | ||
CACNA2D3_chr3_54117552_55079557 | 54879327 | C | CT | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02630.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0061a0001c0001t0003g0058others(4): Show | 7 | 118 | 0.0593 | 1 | c.178 others(7): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54885324 | A | G | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01106.hp2 HG01884.hp1 others(2): Show |
a0001 | a0001c0008a0001c0018a0001c0023 | a0001c0008t0001a0001c0018t0001a0001c0023t0001 | a0001c0008t0001g0074a0001c0008t0001g0092a0001c0008t0001g0103others(2): Show | 5 | 118 | 0.0424 | 0 | c.195 others(4): Show |
p.Glu others(6): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 22/38 | 2118/3789 | 1956/3276 | 652/1091 | chr3 | TogoVar | ||
CACNA2D3_chr3_54117552_55079557 | 54896746 | A | G | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG01106.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0033a0001c0002t0001g0020a0001c0002t0001g0115others(6): Show | 9 | 118 | 0.0763 | 0 | c.224 others(6): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 25/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54987679 | A | G | splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 118 | 0.0085 | 0 | c.262 others(6): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 30/37 | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1791965 | G | C | splice_region_variant | LOW | HG01255.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0141 | 1 | 318 | 0.0031 | 0 | c.*16 others(5): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 38/38 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1793763 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02015.hp1 HG02080.hp2 others(9): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0004a0001c0003t0004others(4): Show | a0001c0001t0004g0016a0001c0001t0004g0040a0001c0001t0004g0076others(9): Show | 12 | 318 | 0.0377 | 0 | c.331 others(6): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 37/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1793767 | C | T | splice_region_variant others(1): Show |
LOW | HG01952.hp1 HG02293.hp2 |
a0001a0008 | a0001c0015a0008c0016 | a0001c0015t0003a0008c0016t0003 | a0001c0015t0003g0268a0008c0016t0003g0118 | 2 | 318 | 0.0063 | 0 | c.331 others(6): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 37/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1853952 | C | T | missense_variant others(1): Show |
MODERATE | NA18906.hp2 | a0018 | a0018c0050 | a0018c0050t0017 | a0018c0050t0017g0010 | 1 | 318 | 0.0031 | 0 | c.224 others(4): Show |
p.Glu others(6): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/38 | 2424/5285 | 2245/3414 | 749/1137 | chr12 | TogoVar | ||
CACNA2D4_chr12_1786963_1923652 | 1856232 | G | A | splice_region_variant others(1): Show |
LOW | HG02922.hp1 HG03225.hp1 |
a0001 | a0001c0005a0001c0052 | a0001c0005t0001a0001c0052t0001 | a0001c0005t0001g0258a0001c0052t0001g0288 | 2 | 318 | 0.0063 | 0 | c.200 others(6): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 20/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1884889 | G | C | splice_region_variant others(1): Show |
LOW | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 318 | 0.0031 | 0 | c.115 others(6): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 10/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1886044 | A | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0223 | 1 | 318 | 0.0031 | 0 | c.994 others(5): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 8/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1908041 | G | A | splice_region_variant others(1): Show |
LOW | HG01106.hp2 | a0001 | a0001c0045 | a0001c0045t0001 | a0001c0045t0001g0143 | 1 | 318 | 0.0031 | 0 | c.487 others(5): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 4/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39177533 | T | C | splice_region_variant others(1): Show |
LOW | NA19000.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0211 | 1 | 396 | 0.0025 | 0 | c.114 others(4): Show |
p.Glu others(6): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 13/14 | 1323/3711 | 1149/1797 | 383/598 | chr17 | TogoVar | ||
CACNB2_chr10_18135424_18548557 | 18150855 | CTTTTTTT | C | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01167.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0058a0001c0001t0003g0081a0001c0001t0003g0199others(9): Show | 12 | 200 | 0.0600 | -7 | c.121 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18150879 | T | G | splice_region_variant others(1): Show |
LOW | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0164 | 1 | 200 | 0.0050 | 0 | c.121 others(5): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18527704 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(13): Show | a0001c0001t0001g0114a0001c0001t0003g0081a0001c0002t0002g0004others(52): Show | 55 | 200 | 0.2750 | 0 | c.105 others(6): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18534233 | T | C | splice_region_variant others(1): Show |
LOW | HG02896.hp1 | a0002 | a0002c0003 | a0002c0003t0052 | a0002c0003t0052g0024 | 1 | 200 | 0.0050 | 0 | c.120 others(6): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 11/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18527704 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(96): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(20): Show | a0001c0001t0001g0134a0001c0001t0003g0127a0001c0002t0002g0009others(96): Show | 99 | 302 | 0.3278 | 0 | c.892 others(5): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18534233 | T | C | splice_region_variant others(1): Show |
LOW | HG02896.hp1 | a0002 | a0002c0003 | a0002c0003t0070 | a0002c0003t0070g0185 | 1 | 302 | 0.0033 | 0 | c.104 others(6): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 10/12 | chr10 | TogoVar | ||||||
CACNB3_chr12_48813496_48833941 | 48824661 | C | A | splice_region_variant others(1): Show |
LOW | HG02109.hp1 NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 3 | 364 | 0.0082 | 0 | c.408 others(5): Show |
CACNB3 | ENSG00000167535.8 | transcript | ENST00000301050.7 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
CACNB3_chr12_48813496_48833941 | 48825429 | C | T | splice_region_variant others(1): Show |
LOW | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 364 | 0.0028 | 0 | c.574 others(5): Show |
CACNB3 | ENSG00000167535.8 | transcript | ENST00000301050.7 | protein_coding | 7/12 | chr12 | TogoVar | ||||||
CACNB3_chr12_48813496_48833941 | 48826756 | C | T | splice_region_variant others(1): Show |
LOW | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 364 | 0.0028 | 0 | c.895 others(5): Show |
CACNB3 | ENSG00000167535.8 | transcript | ENST00000301050.7 | protein_coding | 10/12 | chr12 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151839382 | A | G | splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 230 | 0.0044 | 0 | c.130 others(6): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 13/13 | chr2 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66879065 | G | T | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0328 | 1 | 372 | 0.0027 | 0 | c.283 others(5): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 3/5 | chr17 | TogoVar | ||||||
CACTIN_chr19_3605645_3631790 | 3613365 | G | A | splice_region_variant others(1): Show |
LOW | HG01255.hp1 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0144 | 1 | 408 | 0.0025 | 0 | c.147 others(4): Show |
p.Ser others(6): Show |
CACTIN | ENSG00000105298.14 | transcript | ENST00000429344.7 | protein_coding | 9/10 | 1507/3583 | 1479/2277 | 493/758 | chr19 | TogoVar | ||
CACTIN_chr19_3605645_3631790 | 3618869 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 408 | 0.0025 | 0 | c.116 others(6): Show |
CACTIN | ENSG00000105298.14 | transcript | ENST00000429344.7 | protein_coding | 6/9 | chr19 | TogoVar | ||||||
CACTIN_chr19_3605645_3631790 | 3620122 | C | T | splice_region_variant others(1): Show |
LOW | NA18942.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0147 | 1 | 408 | 0.0025 | 0 | c.884 others(5): Show |
CACTIN | ENSG00000105298.14 | transcript | ENST00000429344.7 | protein_coding | 4/9 | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115217997 | T | G | splice_region_variant others(1): Show |
LOW | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0161 | 1 | 164 | 0.0061 | 0 | c.722 others(5): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115229275 | G | A | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02622.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0056a0001c0001t0059others(1): Show | a0001c0001t0050g0113a0001c0001t0056g0161a0001c0001t0059g0024others(1): Show | 4 | 164 | 0.0244 | 0 | c.563 others(5): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 4/11 | chr11 | TogoVar | ||||||
CADM3_chr1_159166615_159208313 | 159193415 | C | T | splice_region_variant others(1): Show |
LOW | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 376 | 0.0027 | 0 | c.383 others(5): Show |
CADM3 | ENSG00000162706.13 | transcript | ENST00000368125.9 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
CADM3_chr1_159166615_159208313 | 159199879 | C | A | splice_region_variant others(1): Show |
LOW | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 2 | 376 | 0.0053 | 0 | c.107 others(6): Show |
CADM3 | ENSG00000162706.13 | transcript | ENST00000368125.9 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
CADM4_chr19_43617368_43644850 | 43627796 | C | CGATTAGA others(2): Show |
splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02145.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0115others(1): Show | 4 | 424 | 0.0094 | 9 | c.65- others(19): Show |
CADM4 | ENSG00000105767.3 | transcript | ENST00000222374.3 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122416171 | G | GA | splice_region_variant others(1): Show |
LOW | HG02723.hp1 HG02809.hp1 HG02886.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0088a0001c0001t0001g0098others(5): Show | 8 | 126 | 0.0635 | 1 | c.247 others(7): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 17/29 | chr7 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62445803 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0143 | 2 | 160 | 0.0125 | 0 | c.363 others(6): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 26/29 | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62585179 | A | G | splice_region_variant others(1): Show |
LOW | HG03516.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0046 | 2 | 160 | 0.0125 | 0 | c.157 others(6): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 8/29 | chr3 | TogoVar | ||||||
CAD_chr2_27212369_27248943 | 27224341 | A | G | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG03209.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020a0001c0003t0001g0045 | 3 | 258 | 0.0116 | 0 | c.110 others(6): Show |
CAD | ENSG00000084774.14 | transcript | ENST00000264705.9 | protein_coding | 8/43 | chr2 | TogoVar | ||||||
CAD_chr2_27212369_27248943 | 27239235 | G | C | splice_region_variant others(1): Show |
LOW | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 258 | 0.0039 | 0 | c.525 others(6): Show |
CAD | ENSG00000084774.14 | transcript | ENST00000264705.9 | protein_coding | 32/43 | chr2 | TogoVar | ||||||
CAD_chr2_27212369_27248943 | 27243390 | C | CT | splice_region_variant others(1): Show |
LOW | HG01175.hp1 HG01261.hp1 HG01433.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0031a0001c0001t0001g0101others(15): Show | 21 | 258 | 0.0814 | 1 | c.657 others(7): Show |
CAD | ENSG00000084774.14 | transcript | ENST00000264705.9 | protein_coding | 43/43 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAD_chr2_27212369_27248943 | 27243390 | CT | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00597.hp2 HG00741.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0109a0001c0002t0001g0002a0001c0002t0001g0003others(54): Show | 94 | 258 | 0.3643 | -1 | c.657 others(7): Show |
CAD | ENSG00000084774.14 | transcript | ENST00000264705.9 | protein_coding | 43/43 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAGE1_chr6_7321659_7394742 | 7355115 | G | GA | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248a0001c0001t0002g0260a0001c0001t0002g0354others(1): Show | 4 | 360 | 0.0111 | 1 | c.229 others(7): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 10/13 | chr6 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7368684 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(239): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0001g0158others(239): Show | 242 | 360 | 0.6722 | 0 | c.200 others(6): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 7/13 | chr6 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7369914 | A | C | splice_region_variant others(1): Show |
LOW | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 360 | 0.0028 | 0 | c.189 others(6): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 6/13 | chr6 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7387200 | T | TA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(154): Show |
a0001a0002a0005others(3): Show | a0001c0002a0002c0003a0005c0009others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(154): Show | 157 | 360 | 0.4361 | 1 | c.-23 others(6): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CALCA_chr11_14963501_14977351 | 14968997 | G | T | missense_variant others(1): Show |
MODERATE | HG00735.hp1 HG01243.hp1 HG02055.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0028 | 16 | 384 | 0.0417 | 0 | c.228 others(3): Show |
p.Ser others(5): Show |
CALCA | ENSG00000110680.14 | transcript | ENST00000331587.9 | protein_coding | 4/4 | 344/840 | 228/426 | 76/141 | chr11 | TogoVar |