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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CADM2_chr3_84953989_86079429 | 85543425 | T | TGTGGGGG others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0018 a0001c0001t0002g0137 a0001c0001t0005g0128 others(3): Show |
6 | 143 | 0.0420 | 20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85568444 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG04204.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0043 | a0001c0001t0009g0008 a0001c0001t0010g0067 a0001c0001t0043g0060 |
3 | 132 | 0.0227 | 20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85568461 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 128 | 0.0078 | 20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85568469 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0140 | 1 | 125 | 0.0080 | 20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85568473 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp1 HG01261.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0088 a0001c0001t0003g0055 others(5): Show |
8 | 60 | 0.1333 | 20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85577981 | C | CTCCTTCC others(13): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0132 | 1 | 146 | 0.0068 | 20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85577984 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02129.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0103 a0001c0001t0002g0023 a0001c0001t0002g0100 others(7): Show |
10 | 11 | 0.9091 | 20 | c.62- others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85628580 | C | CACATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(108): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 others(108): Show |
111 | 130 | 0.8538 | 20 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85730440 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0054 | 1 | 36 | 0.0278 | 20 | c.88+ others(35): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85803500 | A | AATAGATA others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 28 | 0.0357 | 20 | c.238 others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85898937 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0067 | 1 | 96 | 0.0104 | 20 | c.529 others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85898937 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0012 a0001c0002t0011g0140 a0001c0002t0011g0143 |
3 | 98 | 0.0306 | 20 | c.529 others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85898937 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 a0001c0001t0002g0051 |
2 | 97 | 0.0206 | 20 | c.529 others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85898937 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0142 | 1 | 96 | 0.0104 | 20 | c.529 others(39): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 86066332 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0133 | 1 | 25 | 0.0400 | 20 | c.109 others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122351372 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02280.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0066 a0001c0001t0001g0101 a0001c0001t0002g0021 others(3): Show |
6 | 19 | 0.3158 | 20 | c.350 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 27/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122447543 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 30 | 0.0333 | 20 | c.228 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 15/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122527617 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 78 | 0.0128 | 20 | c.147 others(41): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122527617 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 78 | 0.0128 | 20 | c.147 others(41): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122541867 | G | GCATATAT others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03130.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 others(1): Show |
4 | 122 | 0.0328 | 20 | c.147 others(41): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122579450 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0072 | 1 | 36 | 0.0278 | 20 | c.133 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62510191 | C | CATCCATC others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 4 | 0.2500 | 20 | c.259 others(39): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 17/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62510191 | C | CATCTATC others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01515.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0102 others(4): Show |
7 | 10 | 0.7000 | 20 | c.259 others(39): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 17/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62525679 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 55 | 0.0182 | 20 | c.229 others(39): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 13/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62731805 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0090 others(2): Show |
5 | 82 | 0.0610 | 20 | c.888 others(39): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62843492 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0001g0087 others(2): Show |
5 | 117 | 0.0427 | 20 | c.441 others(39): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7343198 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 133 | 0.0075 | 20 | c.237 others(39): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 11/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7351530 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03486.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(2): Show |
5 | 176 | 0.0284 | 20 | c.236 others(39): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 11/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7358025 | G | GAAATATA others(13): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 227 | 0.0044 | 20 | c.219 others(39): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7358027 | G | GAGATATA others(13): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 131 | 0.0076 | 20 | c.219 others(39): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7358027 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01099.hp2 HG02071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0002g0259 others(3): Show |
6 | 136 | 0.0441 | 20 | c.219 others(39): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7358065 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 352 | 0.0028 | 20 | c.219 others(39): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7367278 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0238 | 1 | 171 | 0.0058 | 20 | c.200 others(39): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
CALB2_chr16_71353723_71395433 | 71356943 | A | ATTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 NA18979.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0231 a0001c0001t0002g0001 a0001c0001t0002g0236 |
3 | 33 | 0.0909 | 20 | c.-18 others(31): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1779 | chr16 | TogoVar | |||||||
CALB2_chr16_71353723_71395433 | 71366022 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00673.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(10): Show |
17 | 222 | 0.0766 | 20 | c.95- others(35): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALB2_chr16_71353723_71395433 | 71382155 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0046 a0001c0001t0003g0069 others(2): Show |
11 | 228 | 0.0482 | 20 | c.343 others(35): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48852743 | G | GAAAGGGC others(13): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0005 | a0005c0007 | a0005c0007t0008 | a0005c0007t0008g0014 | 1 | 326 | 0.0031 | 20 | c.825 others(35): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48852915 | T | TTTTTGTG others(13): Show |
frameshift_variant | HIGH | NA18968.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0044 | 1 | 326 | 0.0031 | 20 | c.826 others(30): Show |
p.Gln others(5): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/13 | 890/3635 | 836/1341 | 279/446 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
CALCOCO2_chr17_48826035_48870245 | 48854382 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0077 | 1 | 222 | 0.0045 | 20 | c.912 others(37): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 a0001c0001t0002g0257 a0001c0001t0002g0261 others(1): Show |
4 | 36 | 0.1111 | 20 | c.912 others(37): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01358.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0002a0001c0001t0006a0002c0003t0001others(3): Show | a0001c0001t0002g0169 a0001c0001t0002g0285 a0001c0001t0006g0271 others(7): Show |
10 | 42 | 0.2381 | 20 | c.912 others(37): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01175.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0002a0002c0003t0001a0004c0004t0005 | a0001c0001t0002g0006 a0001c0001t0002g0256 a0001c0001t0002g0273 others(10): Show |
13 | 45 | 0.2889 | 20 | c.912 others(37): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG02080.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001a0002c0003t0025 | a0001c0001t0002g0007 a0001c0001t0002g0295 a0002c0003t0001g0019 others(5): Show |
8 | 40 | 0.2000 | 20 | c.912 others(37): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48857497 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18942.hp1 NA18954.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0003c0002t0001a0003c0002t0023 | a0001c0001t0002g0170 a0003c0002t0001g0151 a0003c0002t0001g0175 others(1): Show |
4 | 20 | 0.2000 | 20 | c.100 others(39): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48857974 | C | CAATAGAA others(13): Show |
intron_variant | MODIFIER | HG02148.hp2 HG03139.hp1 NA19058.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0002a0002c0003t0007a0003c0002t0001 | a0001c0001t0002g0301 a0002c0003t0007g0141 a0003c0002t0001g0221 |
3 | 142 | 0.0211 | 20 | c.100 others(39): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | AAATAGAA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(51): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0001c0001t0006a0003c0002t0001others(6): Show | a0001c0001t0002g0251 a0001c0001t0002g0268 a0001c0001t0002g0314 others(51): Show |
54 | 115 | 0.4696 | 20 | c.100 others(39): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48867569 | A | AAAAAAAC others(13): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0115 | 1 | 276 | 0.0036 | 20 | c.*45 others(31): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2325 | chr17 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187366249 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017 | a0001c0001t0008g0029 a0001c0001t0017g0144 |
2 | 3 | 0.6667 | 20 | c.501 others(37): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 8/14 | chr2 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93477961 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 6 | 0.1667 | 20 | c.206 others(35): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 4/13 | chr7 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93554769 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0249 a0001c0003t0002g0228 |
2 | 56 | 0.0357 | 20 | c.-27 others(39): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar |