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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABS1_chr4_70329981_70342116 | 70334333 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0002 |
11 | 444 | 0.0248 | -25 | c.-70 others(34): Show |
CABS1 | ENSG00000145309.6 | transcript | ENST00000273936.6 | protein_coding | 647 | chr4 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13234731 | TCCCCTAC others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(62): Show |
a0001a0002a0003others(20): Show | a0001c0004a0001c0005a0001c0006others(47): Show | a0001c0004t0001a0001c0005t0021a0001c0006t0001others(48): Show | a0001c0004t0001g0114 a0001c0005t0021g0021 a0001c0006t0001g0133 others(62): Show |
65 | 216 | 0.3009 | -25 | c.524 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 34/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13234744 | GAGAAGGG others(18): Show |
G | intron_variant | MODIFIER | HG02970.hp1 NA19030.hp1 |
a0002 | a0002c0085a0002c0117 | a0002c0085t0001a0002c0117t0001 | a0002c0085t0001g0085 a0002c0117t0001g0072 |
2 | 216 | 0.0093 | -25 | c.524 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 34/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13341309 | TCTTGATG others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0004a0001c0005others(91): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(95): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(139): Show |
142 | 216 | 0.6574 | -25 | c.979 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13376830 | CATGTTAT others(18): Show |
C | intron_variant | MODIFIER | NA18948.hp2 NA18975.hp1 |
a0005a0040 | a0005c0102a0040c0119 | a0005c0102t0002a0040c0119t0012 | a0005c0102t0002g0122 a0040c0119t0012g0130 |
2 | 205 | 0.0098 | -25 | c.540 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497502 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0030 | a0002c0030t0002 | a0002c0030t0002g0157 | 1 | 215 | 0.0047 | -25 | c.293 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497514 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0094 | a0003c0094t0002 | a0003c0094t0002g0208 | 1 | 212 | 0.0047 | -25 | c.293 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497516 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 |
a0001a0013 | a0001c0034a0013c0111 | a0001c0034t0001a0013c0111t0001 | a0001c0034t0001g0079 a0013c0111t0001g0209 |
2 | 206 | 0.0097 | -25 | c.293 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497518 | AAAAATAT others(18): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02129.hp2 others(3): Show |
a0001a0003a0004others(2): Show | a0001c0006a0003c0035a0004c0123others(3): Show | a0001c0006t0001a0003c0035t0002a0004c0123t0001others(3): Show | a0001c0006t0001g0033 a0003c0035t0002g0077 a0004c0123t0001g0078 others(3): Show |
6 | 209 | 0.0287 | -25 | c.293 others(42): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2104788 | GTGCTGAT others(18): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0069 | 1 | 104 | 0.0096 | -25 | c.50- others(42): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2410868 | TCCTATCC others(18): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 HG03225.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0025others(2): Show | a0001c0001t0004a0001c0006t0001a0001c0025t0007others(2): Show | a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0006t0001g0102 others(3): Show |
6 | 104 | 0.0577 | -25 | c.478 others(44): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82185530 | GAGGGGGA others(18): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0097 a0001c0001t0003g0076 |
2 | 142 | 0.0141 | -25 | c.295 others(44): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54687121 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01243.hp1 HG01255.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0045 others(28): Show |
31 | 84 | 0.3690 | -25 | c.116 others(46): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 2 | 0.5000 | -25 | c.138 others(44): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54829988 | AGGTTCAA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(93): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 others(93): Show |
96 | 116 | 0.8276 | -25 | c.139 others(44): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54830012 | CGGGTTCA others(18): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 116 | 0.0086 | -25 | c.139 others(44): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54848347 | CCAAAAGT others(18): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 116 | 0.0086 | -25 | c.162 others(44): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18155517 | GCACATTC others(18): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 | 1 | 200 | 0.0050 | -25 | c.213 others(42): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18181562 | TTTTTATT others(18): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0002t0002 | a0001c0001t0003g0193 a0001c0001t0011g0191 a0001c0001t0011g0192 others(1): Show |
4 | 36 | 0.1111 | -25 | c.213 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481206 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0085 | 1 | 187 | 0.0053 | -25 | c.334 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481216 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 a0001c0001t0008g0083 |
2 | 193 | 0.0104 | -25 | c.334 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481218 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 199 | 0.0050 | -25 | c.334 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481206 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0202 | 1 | 283 | 0.0035 | -25 | c.172 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481216 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0151 a0001c0001t0007g0161 |
2 | 290 | 0.0069 | -25 | c.172 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481218 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 299 | 0.0033 | -25 | c.172 others(44): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24257367 | GGGAGAGA others(18): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 348 | 0.0029 | -25 | c.211 others(40): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317639 | AAAGAAAA others(18): Show |
A | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 364 | 0.0027 | -25 | c.212 others(44): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53920225 | CTGGTCAT others(18): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | 364 | 0.0055 | -25 | c.424 others(42): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53920726 | TCCCAGGC others(18): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0073 others(2): Show |
5 | 355 | 0.0141 | -25 | c.424 others(42): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53921159 | CTGGTCAT others(18): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 364 | 0.0027 | -25 | c.424 others(42): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53922175 | TCCCAGGC others(18): Show |
T | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 348 | 0.0029 | -25 | c.424 others(42): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53923576 | TCCCAGGC others(18): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 311 | 0.0032 | -25 | c.424 others(42): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85855602 | CATATATA others(18): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 75 | 0.0133 | -25 | c.239 others(44): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122477027 | GGAGAGGA others(18): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 124 | 0.0081 | -25 | c.186 others(44): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 12/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122567083 | TAAACTCC others(18): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 HG03225.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0004a0002c0006t0001a0002c0006t0002 | a0001c0002t0004g0068 a0002c0006t0001g0059 a0002c0006t0002g0055 |
3 | 124 | 0.0242 | -25 | c.133 others(46): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48854832 | GGAGCCTA others(18): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0054 | 1 | 326 | 0.0031 | -25 | c.913 others(42): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | chr17 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 71971948 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA18747.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065 a0001c0001t0002g0054 |
2 | 134 | 0.0149 | -25 | c.501 others(44): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114243 | TGAAGGGA others(18): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0056 | a0001c0001t0004g0081 a0001c0001t0004g0088 a0001c0001t0056g0137 |
3 | 51 | 0.0588 | -25 | c.245 others(42): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12691392 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG02257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0079a0001c0002t0010 | a0001c0001t0003g0129 a0001c0001t0079g0151 a0001c0002t0010g0007 |
3 | 212 | 0.0142 | -25 | c.299 others(44): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12691394 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0020 | 1 | 211 | 0.0047 | -25 | c.299 others(44): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12734346 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0039a0001c0002t0010 | a0001c0001t0011g0017 a0001c0001t0039g0157 a0001c0002t0010g0079 |
3 | 199 | 0.0151 | -25 | c.300 others(44): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12751051 | AATAAGAT others(18): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01106.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0002g0088 others(19): Show |
22 | 25 | 0.8800 | -25 | c.300 others(42): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12751103 | TAAGATAA others(18): Show |
T | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0059 | 1 | 214 | 0.0047 | -25 | c.300 others(42): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1G_chr1_209578714_209618939 | 209588354 | ATGGATTG others(18): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01928.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0119 a0001c0001t0001g0236 |
6 | 106 | 0.0566 | -25 | c.-30 others(42): Show |
CAMK1G | ENSG00000008118.10 | transcript | ENST00000361322.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMK2A_chr5_150214491_150294773 | 150284148 | GCAGAGTG others(18): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 336 | 0.0030 | -25 | c.62+ others(40): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111469159 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0050 | a0001c0001t0007g0243 a0001c0001t0050g0239 |
2 | 243 | 0.0082 | -25 | c.626 others(42): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111469161 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG03516.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0083 | a0001c0001t0064g0207 a0001c0001t0083g0192 |
2 | 236 | 0.0085 | -25 | c.626 others(42): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200773887 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(73): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0008a0001c0002t0002a0001c0002t0011others(5): Show | a0001c0001t0008g0031 a0001c0002t0002g0033 a0001c0002t0002g0096 others(73): Show |
76 | 118 | 0.6441 | -25 | c.399 others(44): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004647 | GCTGGGGG others(18): Show |
G | intron_variant | MODIFIER | NA18981.hp1 NA19079.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0026 | 2 | 391 | 0.0051 | -25 | c.-14 others(44): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38734364 | TCTGGGGG others(18): Show |
T | frameshift_variant others(1): Show |
HIGH | HG03490.hp2 | a0016 | a0016c0021 | a0016c0021t0001 | a0016c0021t0001g0144 | 1 | 340 | 0.0029 | -25 | c.174 others(34): Show |
p.Ala others(5): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 16/21 | 2078/3129 | 1745/2160 | 582/719 | chr19 | TogoVar |