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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CC2D2B_chr10_95902975_96038745 | 95986358 | C | CGGGTTCC others(241): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(305): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0007a0001c0027others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0015others(304): Show | 308 | 312 | 0.9872 | 248 | c.228 others(267): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(241): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 248 | c.-22 others(259): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CD226_chr18_69848274_69952873 | 69894561 | A | AGGGGAGG others(241): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG01978.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0135a0002c0002t0006a0002c0002t0019 | a0001c0001t0135g0158a0002c0002t0006g0176a0002c0002t0019g0175 | 3 | 256 | 0.0117 | 248 | c.727 others(265): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 3/5 | chr18 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355865 | A | ACGCATAC others(241): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 442 | 0.0023 | 248 | c.*27 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 705 | chr11 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATACACA others(241): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002a0001c0001t0005g0010 | 2 | 442 | 0.0045 | 248 | c.*27 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(241): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0037 | 1 | 442 | 0.0023 | 248 | c.*27 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(241): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 442 | 0.0023 | 248 | c.*27 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(241): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG02698.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0022 | 3 | 442 | 0.0068 | 248 | c.*27 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(241): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 442 | 0.0023 | 248 | c.*27 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(241): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 442 | 0.0023 | 248 | c.*27 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355930 | C | CACACATA others(241): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 1 | 442 | 0.0023 | 248 | c.*28 others(259): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 770 | chr11 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168631576 | T | TATATATT others(241): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0069 | 1 | 176 | 0.0057 | 248 | c.465 others(263): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1924223 | G | GACCACCC others(241): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02717.hp1 |
a0005a0064 | a0005c0044a0005c0083a0064c0060 | a0005c0044t0001a0005c0083t0001a0064c0060t0001 | a0005c0044t0001g0066a0005c0083t0001g0035a0064c0060t0001g0021 | 3 | 278 | 0.0108 | 248 | c.423 others(265): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 34/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1982175 | C | CGGACAGA others(241): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0001a0003a0005others(18): Show | a0001c0006a0003c0003a0005c0016others(20): Show | a0001c0006t0001a0003c0003t0001a0003c0003t0003others(22): Show | a0001c0006t0001g0020a0001c0006t0001g0115a0001c0006t0001g0160others(48): Show | 51 | 278 | 0.1835 | 248 | c.500 others(265): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | ||||||
CHMP4A_chr14_24204615_24218488 | 24209057 | G | GAAAGCTA others(241): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 418 | 0.0024 | 248 | c.*81 others(257): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 557 | chr14 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0115 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0186 | 2 | 290 | 0.0069 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0191 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0195 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0010 | a0010c0015 | a0010c0015t0004 | a0010c0015t0004g0250 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(241): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0232 | 1 | 290 | 0.0035 | 248 | c.-11 others(263): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098520 | A | AATATATA others(241): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0041a0001c0001t0011g0025 | 2 | 264 | 0.0076 | 248 | c.181 others(267): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255884 | A | AGGGGGAA others(241): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0080 | a0003c0080t0001 | a0003c0080t0001g0208 | 1 | 344 | 0.0029 | 248 | c.85- others(265): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203112 | T | TATATATA others(241): Show |
intron_variant | MODIFIER | NA18951.hp1 NA19058.hp1 |
a0007 | a0007c0006 | a0007c0006t0005 | a0007c0006t0005g0327a0007c0006t0005g0328 | 2 | 344 | 0.0058 | 248 | c.88- others(265): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203112 | T | TATATATA others(241): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03704.hp1 HG03831.hp2 |
a0009 | a0009c0008 | a0009c0008t0001a0009c0008t0023 | a0009c0008t0001g0167a0009c0008t0001g0277a0009c0008t0023g0322 | 3 | 344 | 0.0087 | 248 | c.88- others(265): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203362 | C | CATATATG others(241): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03579.hp1 |
a0014a0018 | a0014c0023a0018c0028 | a0014c0023t0002a0018c0028t0001 | a0014c0023t0002g0338a0018c0028t0001g0013 | 2 | 344 | 0.0058 | 248 | c.88- others(265): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587718 | A | ACCCGCGT others(241): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 348 | 0.0029 | 248 | c.927 others(263): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(241): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 346 | 0.0029 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(241): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0170 | 1 | 346 | 0.0029 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(241): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18977.hp2 NA18985.hp2 |
a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0142a0003c0008t0001g0194a0003c0008t0001g0196 | 3 | 346 | 0.0087 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(241): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0162 | 1 | 346 | 0.0029 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(241): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00639.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0017a0002c0002others(4): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0146a0001c0001t0001g0152others(33): Show | 40 | 346 | 0.1156 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(241): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03491.hp1 NA20752.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0239a0003c0003t0001g0242a0003c0003t0001g0243 | 3 | 346 | 0.0087 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686120 | C | CTCCCTCC others(241): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0235 | 1 | 346 | 0.0029 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686122 | C | CCCTCCCT others(241): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0187 | 2 | 346 | 0.0058 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686124 | C | CTCCCTTC others(241): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02630.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0278a0007c0007t0001g0275a0007c0007t0001g0276others(3): Show | 6 | 346 | 0.0173 | 248 | c.463 others(265): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCCACC others(241): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 324 | 0.0031 | 248 | c.101 others(265): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(241): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 370 | 0.0027 | 248 | c.*56 others(259): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198352 | G | GCCTCCCT others(241): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0160 | 1 | 167 | 0.0060 | 248 | c.646 others(263): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198352 | G | GCCTCCCT others(241): Show |
intron_variant | MODIFIER | HG02976.hp1 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0096a0001c0002t0005g0052 | 2 | 167 | 0.0120 | 248 | c.646 others(263): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47036037 | A | AAAAGTGG others(241): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(1): Show | 4 | 224 | 0.0179 | 248 | c.150 others(267): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812376 | T | TACGTATA others(241): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 264 | 0.0038 | 248 | c.*18 others(259): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1729 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812368 | C | CATGTGTA others(241): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 272 | 0.0037 | 248 | c.*20 others(259): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1958 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812376 | T | TACGTATA others(241): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 272 | 0.0037 | 248 | c.*20 others(259): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1966 | chrX | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATGT others(241): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19004.hp2 |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0019 | a0002c0002t0008g0250a0002c0002t0019g0282 | 2 | 334 | 0.0060 | 248 | c.290 others(263): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |