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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCN4_chr8_133186039_133236690 | 133213929 | C | CTATATAT others(88): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 396 | 0.0025 | 95 | c.349 others(110): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CD5_chr11_61097489_61132852 | 61099478 | T | TTACACAC others(88): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00639.hp2 others(93): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0004others(9): Show | a0001c0001t0001a0001c0001t0010a0002c0003t0002others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0039 others(59): Show |
96 | 244 | 0.3934 | 95 | c.-30 others(106): Show |
CD5 | ENSG00000110448.11 | transcript | ENST00000347785.8 | protein_coding | 3010 | chr11 | TogoVar | |||||||
CDC14A_chr1_100347506_100525277 | 100412710 | A | ATATATAT others(88): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0295 | 1 | 306 | 0.0033 | 95 | c.310 others(114): Show |
CDC14A | ENSG00000079335.20 | transcript | ENST00000336454.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61383264 | G | GATATATG others(88): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02145.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0031a0001c0003t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0031g0089 a0001c0003t0001g0038 others(8): Show |
11 | 106 | 0.1038 | 95 | c.169 others(116): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80911950 | G | GGATTGCT others(88): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03579.hp2 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0071 a0001c0007t0003g0132 |
2 | 254 | 0.0079 | 95 | c.179 others(114): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENPVL3_chrX_51612020_51623912 | 51621503 | A | ATTCTTCT others(88): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 298 | 0.0034 | 95 | c.-26 others(106): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 2592 | chrX | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181606406 | G | GAGGGGAG others(88): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0001t0021a0001c0002t0001others(2): Show | a0001c0001t0001g0210 a0001c0001t0021g0183 a0001c0002t0001g0060 others(7): Show |
11 | 298 | 0.0369 | 95 | c.239 others(112): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87408455 | T | TGCGCACA others(88): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG02818.hp1 others(5): Show |
a0001a0013 | a0001c0001a0013c0020 | a0001c0001t0001a0001c0001t0002a0013c0020t0001 | a0001c0001t0001g0230 a0001c0001t0001g0336 a0001c0001t0001g0337 others(5): Show |
8 | 376 | 0.0213 | 95 | c.-6+ others(108): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823919 | G | GTGCTGTG others(88): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0044 | a0009c0044t0001 | a0009c0044t0001g0154 | 1 | 246 | 0.0041 | 95 | c.711 others(114): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20355169 | A | AGAGGAGG others(88): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 NA18955.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0178 a0001c0003t0004g0005 a0002c0002t0001g0143 others(3): Show |
6 | 236 | 0.0254 | 95 | c.351 others(114): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356531 | G | GTGAGGGG others(88): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0044 | 1 | 236 | 0.0042 | 95 | c.351 others(114): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356531 | G | GTGAGGGG others(88): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0014 | a0009c0014t0006 | a0009c0014t0006g0007 | 1 | 236 | 0.0042 | 95 | c.351 others(114): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756934 | A | AAAGAAAG others(88): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0315 | 1 | 354 | 0.0028 | 95 | c.904 others(110): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CHRNB4_chr15_78619111_78646210 | 78632274 | T | TCTTTCTT others(88): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 416 | 0.0024 | 95 | c.205 others(110): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CIR1_chr2_174343022_174400712 | 174354575 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 348 | 0.0029 | 95 | c.485 others(112): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CLN6_chr15_68201992_68234728 | 68229767 | A | AGGGAGGC others(88): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 324 | 0.0031 | 95 | c.-18 others(104): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763612 | C | CCCCGCCG others(88): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 413 | 0.0024 | 95 | c.-39 others(104): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 176 | chr8 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19291824 | G | GCCCCCGC others(88): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02258.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0031a0002c0001others(3): Show | a0001c0004t0004a0001c0031t0001a0002c0001t0002others(3): Show | a0001c0004t0004g0118 a0001c0031t0001g0103 a0002c0001t0002g0110 others(13): Show |
16 | 346 | 0.0462 | 95 | c.-18 others(104): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 106 | chr22 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136769 | T | TTTATATT others(88): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0036 | 1 | 152 | 0.0066 | 95 | c.432 others(114): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136798 | T | TTTATATT others(88): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 152 | 0.0066 | 95 | c.432 others(114): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNFN_chr19_42382019_42395297 | 42388019 | A | AGGGGGGG others(88): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 276 | 0.0036 | 95 | c.113 others(110): Show |
CNFN | ENSG00000105427.10 | transcript | ENST00000222032.10 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
CNKSR3_chr6_154382515_154515685 | 154505104 | A | ACGAGGGG others(88): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0288 | 1 | 342 | 0.0029 | 95 | c.52+ others(110): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45498442 | G | GCCAGGGT others(88): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0045 | a0003c0045t0001 | a0003c0045t0001g0002 | 1 | 292 | 0.0034 | 95 | c.268 others(112): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255806 | A | AGGGGAAA others(88): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02004.hp2 |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0309 a0002c0011t0002g0310 |
2 | 344 | 0.0058 | 95 | c.85- others(112): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255806 | A | AGGGGGAA others(88): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19004.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0158 a0001c0003t0001g0159 |
2 | 344 | 0.0058 | 95 | c.85- others(112): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110355315 | C | CTGTTTGT others(88): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0071 | a0003c0071t0001 | a0003c0071t0001g0209 | 1 | 372 | 0.0027 | 95 | c.100 others(112): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134759405 | C | CCCCACAC others(88): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0233 | 1 | 272 | 0.0037 | 95 | c.193 others(114): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134759408 | C | CACACCCC others(88): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01167.hp2 others(13): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0008others(12): Show | a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0003t0008g0187 others(13): Show |
16 | 272 | 0.0588 | 95 | c.193 others(114): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134828659 | C | CAGATACA others(88): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0009a0001c0007t0017 | a0001c0001t0009g0233 a0001c0007t0017g0241 |
2 | 272 | 0.0074 | 95 | c.506 others(114): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134828659 | C | CAGATACA others(88): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(113): Show | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 others(171): Show |
175 | 272 | 0.6434 | 95 | c.506 others(114): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134828659 | C | CAGATACA others(88): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 272 | 0.0037 | 95 | c.506 others(114): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134828659 | C | CAGATACA others(88): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0080 | 1 | 272 | 0.0037 | 95 | c.506 others(114): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46135805 | C | CCCCTCCC others(88): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02145.hp1 NA18971.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0012a0004c0005 | a0001c0002t0002a0002c0012t0001a0004c0005t0001 | a0001c0002t0002g0252 a0002c0012t0001g0026 a0004c0005t0001g0099 others(1): Show |
4 | 364 | 0.0110 | 95 | c.*32 others(106): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2958 | chr21 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 412 | 0.0024 | 95 | c.630 others(110): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825154 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0221 | 1 | 412 | 0.0024 | 95 | c.630 others(110): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825154 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | NA18612.hp2 NA19005.hp2 |
a0001a0044 | a0001c0006a0044c0087 | a0001c0006t0001a0044c0087t0001 | a0001c0006t0001g0164 a0044c0087t0001g0165 |
2 | 412 | 0.0049 | 95 | c.630 others(110): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825154 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01099.hp1 others(51): Show |
a0001a0008a0015others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(36): Show |
54 | 412 | 0.1311 | 95 | c.630 others(110): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825154 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02738.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0006a0001c0010t0004 | a0001c0001t0001g0166 a0001c0001t0006g0259 a0001c0010t0004g0258 |
3 | 412 | 0.0073 | 95 | c.630 others(110): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3591066 | C | CGGCCGGA others(88): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 378 | 0.0027 | 95 | c.-41 others(106): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4045 | chr2 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 312644 | C | CCACTGAA others(88): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0015 | a0015c0024 | a0015c0024t0195 | a0015c0024t0195g0140 | 1 | 366 | 0.0027 | 95 | c.*74 others(106): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 4092 | chr18 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116158496 | C | CTCCCTCT others(88): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 350 | 0.0029 | 95 | c.510 others(114): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAG others(88): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 330 | 0.0030 | 95 | c.735 others(110): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(88): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03225.hp2 HG03834.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0006 | a0001c0001t0001g0101 a0001c0001t0001g0172 a0001c0001t0001g0183 others(1): Show |
4 | 348 | 0.0115 | 95 | c.927 others(110): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587883 | A | AGCCACAG others(88): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01168.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0004t0002a0002c0005t0002others(1): Show | a0001c0001t0001g0248 a0001c0004t0002g0003 a0001c0004t0002g0072 others(7): Show |
14 | 348 | 0.0402 | 95 | c.927 others(110): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588128 | A | ACCCACAG others(88): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0227 | 1 | 348 | 0.0029 | 95 | c.928 others(110): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588202 | A | AGCCACAG others(88): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0315 | 1 | 348 | 0.0029 | 95 | c.928 others(110): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49702143 | A | ATATTTAT others(88): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | 350 | 0.0114 | 95 | c.693 others(110): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPXM2_chr10_123740639_123896807 | 123881225 | A | ACCCTCCC others(88): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01106.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 others(14): Show |
17 | 288 | 0.0590 | 95 | c.305 others(110): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123881225 | A | ACCCTCCC others(88): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0270 | 1 | 288 | 0.0035 | 95 | c.305 others(110): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647237 | C | CCCTCCTC others(88): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 HG03540.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0165 a0004c0005t0001g0084 |
2 | 276 | 0.0073 | 95 | c.*50 others(106): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1893 | chr15 | TogoVar |