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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA11_chr19_48632946_48651187 | 48649480 | G | GGAAGTGG others(167): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 392 | 0.0026 | 174 | c.-38 others(185): Show |
CA11 | ENSG00000063180.9 | transcript | ENST00000084798.9 | protein_coding | 3294 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(167): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp1 HG02280.hp1 others(2): Show |
a0001a0011a0013others(1): Show | a0001c0001a0011c0103a0013c0089others(1): Show | a0001c0001t0001a0001c0001t0004a0011c0103t0004others(2): Show | a0001c0001t0001g0128 a0001c0001t0004g0155 a0011c0103t0004g0200 others(2): Show |
5 | 218 | 0.0229 | 174 | c.573 others(193): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(167): Show |
intron_variant | MODIFIER | NA19000.hp1 NA20752.hp1 |
a0002a0032 | a0002c0070a0032c0045 | a0002c0070t0007a0032c0045t0005 | a0002c0070t0007g0102 a0032c0045t0005g0191 |
2 | 218 | 0.0092 | 174 | c.573 others(193): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221234 | C | CTTTCTTT others(167): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 |
a0001 | a0001c0037a0001c0106 | a0001c0037t0004a0001c0106t0001 | a0001c0037t0004g0021 a0001c0106t0001g0121 |
2 | 218 | 0.0092 | 174 | c.573 others(193): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221234 | C | CTTTCTTT others(167): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0099 | 1 | 218 | 0.0046 | 174 | c.573 others(193): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGGGGG others(167): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 234 | 0.0043 | 174 | c.207 others(191): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12519663 | G | GGGGGGCT others(167): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01167.hp1 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0001g0056 a0001c0001t0005g0204 a0001c0001t0007g0183 others(9): Show |
12 | 214 | 0.0561 | 174 | c.93- others(191): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004227 | A | AGAGTTAG others(167): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 394 | 0.0025 | 174 | c.-14 others(193): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894213 | T | TGCACGCA others(167): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 284 | 0.0035 | 174 | c.380 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975155 | T | TCCACCCT others(167): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 284 | 0.0035 | 174 | c.151 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975168 | T | TCTCTGCT others(167): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0059 | 1 | 284 | 0.0035 | 174 | c.151 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975168 | T | TCTCTGCT others(167): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0207 | 1 | 284 | 0.0035 | 174 | c.151 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975179 | C | CCTGCAGC others(167): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 284 | 0.0035 | 174 | c.151 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975179 | C | CCTGCAGC others(167): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 284 | 0.0035 | 174 | c.151 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975179 | C | CCTGCAGC others(167): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 284 | 0.0035 | 174 | c.151 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975210 | C | CCCTCTGC others(167): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0008 | a0001c0008t0032 | a0001c0008t0032g0146 | 1 | 284 | 0.0035 | 174 | c.151 others(191): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CCDC15_chr11_124949202_125046489 | 125025067 | A | AATATATA others(167): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 350 | 0.0029 | 174 | c.241 others(195): Show |
CCDC15 | ENSG00000149548.15 | transcript | ENST00000344762.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15767830 | T | TCCCTCCC others(167): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0050 | 1 | 266 | 0.0038 | 174 | c.267 others(193): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(167): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02004.hp1 HG03831.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0135 others(1): Show |
5 | 410 | 0.0122 | 174 | c.-22 others(185): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(167): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 410 | 0.0024 | 174 | c.-22 others(185): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(167): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 NA18957.hp2 NA18986.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 a0002c0002t0001g0126 a0002c0002t0001g0131 others(1): Show |
4 | 410 | 0.0098 | 174 | c.-22 others(185): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(167): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 410 | 0.0024 | 174 | c.-22 others(185): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(167): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0022 | a0022c0042 | a0022c0042t0002 | a0022c0042t0002g0118 | 1 | 284 | 0.0035 | 174 | c.411 others(191): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(167): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19055.hp1 |
a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0200 a0001c0011t0004g0206 |
2 | 284 | 0.0070 | 174 | c.411 others(191): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCR9_chr3_45881543_45908174 | 45890272 | A | ATTTATAT others(167): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02109.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0002 | a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0044 others(3): Show |
15 | 424 | 0.0354 | 174 | c.-29 others(191): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CCSER2_chr10_84323589_84523517 | 84501834 | A | AAAATATA others(167): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 370 | 0.0027 | 174 | c.232 others(195): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355852 | C | CACATATA others(167): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 442 | 0.0023 | 174 | c.*27 others(185): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 692 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355852 | C | CACATATA others(167): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 442 | 0.0023 | 174 | c.*27 others(185): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 692 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355852 | C | CACATATA others(167): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 NA19063.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034 a0002c0002t0002g0081 |
2 | 442 | 0.0045 | 174 | c.*27 others(185): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 692 | chr11 | TogoVar | |||||||
CDH6_chr5_31188686_31334146 | 31244571 | T | TGGTGGCG others(167): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0024a0001c0005t0024 | a0001c0001t0024g0316 a0001c0005t0024g0085 |
2 | 338 | 0.0059 | 174 | c.-12 others(195): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888521 | T | TCACCCCT others(167): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0128 | 1 | 246 | 0.0041 | 174 | c.330 others(193): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888753 | T | TCACCCCT others(167): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01891.hp1 others(4): Show |
a0013a0018a0032others(1): Show | a0013c0022a0013c0061a0018c0024others(2): Show | a0013c0022t0001a0013c0061t0001a0018c0024t0001others(2): Show | a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156 others(4): Show |
7 | 246 | 0.0285 | 174 | c.330 others(193): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753659 | A | ATAATGTA others(167): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18960.hp2 NA18980.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 a0001c0002t0001g0271 a0001c0002t0001g0272 others(2): Show |
5 | 354 | 0.0141 | 174 | c.905 others(191): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753659 | A | ATAATGTA others(167): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 354 | 0.0028 | 174 | c.905 others(191): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753688 | A | ATAATGTA others(167): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0074 others(4): Show |
8 | 354 | 0.0226 | 174 | c.905 others(191): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911152 | T | TATATATA others(167): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0224 | 1 | 245 | 0.0041 | 174 | c.124 others(191): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911164 | T | TATATATA others(167): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 245 | 0.0041 | 174 | c.124 others(189): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911164 | T | TATATATA others(167): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18970.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 |
3 | 245 | 0.0122 | 174 | c.124 others(189): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911164 | T | TATATATA others(167): Show |
intron_variant | MODIFIER | HG00642.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0037 |
2 | 245 | 0.0082 | 174 | c.124 others(189): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHODL_chr21_18239833_18272370 | 18251473 | T | TTATTTAT others(167): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0288 a0001c0001t0005g0291 |
2 | 402 | 0.0050 | 174 | c.80- others(189): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1328827 | G | GCATCCAG others(167): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 370 | 0.0027 | 174 | c.108 others(193): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329603 | C | CTGGTGGA others(167): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 370 | 0.0027 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329614 | G | GGCCTCAG others(167): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0226 |
2 | 370 | 0.0054 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329614 | G | GGCCTCAG others(167): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0010 | a0001c0001t0001g0222 a0001c0011t0010g0229 |
2 | 370 | 0.0054 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329632 | C | CTGGTGGA others(167): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 370 | 0.0027 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329661 | C | CTGGTGGA others(167): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0305 a0001c0001t0001g0306 others(2): Show |
5 | 370 | 0.0135 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329661 | C | CTGGTGGA others(167): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02738.hp1 HG03688.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0250 a0002c0003t0004g0251 a0002c0003t0004g0252 others(1): Show |
4 | 370 | 0.0108 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329719 | T | TTGGTGGA others(167): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0294 a0001c0001t0001g0296 |
3 | 370 | 0.0081 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329730 | A | AGCCTCAG others(167): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 370 | 0.0027 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329742 | C | CTCTGCTT others(167): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 370 | 0.0027 | 174 | c.108 others(191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar |