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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(187): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG03704.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0161 a0002c0002t0001g0029 |
2 | 19 | 0.1053 | 194 | c.-22 others(205): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(187): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 18 | 0.0556 | 194 | c.-22 others(205): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(187): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02135.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0003g0018 a0001c0001t0003g0020 others(3): Show |
8 | 25 | 0.3200 | 194 | c.-22 others(205): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(187): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01515.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0020 others(2): Show |
7 | 24 | 0.2917 | 194 | c.-22 others(205): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293523 | C | CTCACCCG others(187): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0210 | 1 | 272 | 0.0037 | 194 | c.411 others(211): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCSER2_chr10_84323589_84523517 | 84501834 | A | AAAATATA others(187): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 218 | 0.0046 | 194 | c.232 others(215): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(187): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 29 | 0.0345 | 194 | c.*27 others(205): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355930 | C | CACACATA others(187): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 353 | 0.0028 | 194 | c.*28 others(205): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 770 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355930 | C | CACACATA others(187): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0002 | 1 | 353 | 0.0028 | 194 | c.*28 others(205): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 770 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355930 | C | CACATATA others(187): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 353 | 0.0028 | 194 | c.*28 others(205): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 770 | chr11 | TogoVar | |||||||
CDC40_chr6_110175427_110237232 | 110185397 | T | TACGCCCG others(187): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 others(1): Show |
4 | 325 | 0.0123 | 194 | c.189 others(211): Show |
CDC40 | ENSG00000168438.15 | transcript | ENST00000307731.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960057 | G | GTGTATGT others(187): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0129 | 1 | 166 | 0.0060 | 194 | c.253 others(213): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDKL5_chrX_18420608_18645196 | 18481370 | T | TTCTTTCT others(187): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0005 | 1 | 189 | 0.0053 | 194 | c.-16 others(215): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103113064 | A | ATATATAT others(187): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 318 | 0.0031 | 194 | c.754 others(213): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650046 | G | GACCACGA others(187): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 89 | 0.0112 | 194 | c.177 others(213): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650046 | G | GACCACGA others(187): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 89 | 0.0112 | 194 | c.177 others(213): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CHODL_chr21_18239833_18272370 | 18251473 | T | TTATTTAT others(187): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0288 | 1 | 389 | 0.0026 | 194 | c.80- others(209): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CLDN8_chr21_30209006_30221097 | 30210226 | A | ATATATAT others(187): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 464 | 0.0022 | 194 | c.*50 others(205): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3779 | chr21 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146535114 | G | GATATATA others(187): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 26 | 0.0385 | 194 | c.98- others(213): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146535114 | G | GATATATA others(187): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA19030.hp2 |
a0001a0002 | a0001c0004a0002c0016 | a0001c0004t0003a0002c0016t0004 | a0001c0004t0003g0035 a0001c0004t0003g0036 a0002c0016t0004g0024 |
3 | 28 | 0.1071 | 194 | c.98- others(213): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104057439 | T | TAAAAGAT others(187): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02040.hp2 HG02735.hp1 others(8): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0052a0003c0020others(4): Show | a0001c0001t0001a0001c0052t0002a0003c0020t0001others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
11 | 100 | 0.1100 | 194 | c.126 others(211): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 16/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45431488 | A | AGGGGGGC others(187): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 128 | 0.0078 | 194 | c.106 others(213): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921481 | T | TATATATC others(187): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0018 | a0004c0018t0025 | a0004c0018t0025g0114 | 1 | 42 | 0.0238 | 194 | c.267 others(211): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355485 | G | GGGGGAGG others(187): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03486.hp2 |
a0001a0002 | a0001c0011a0002c0006 | a0001c0011t0004a0002c0006t0001 | a0001c0011t0004g0207 a0002c0006t0001g0114 |
2 | 369 | 0.0054 | 194 | c.100 others(211): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202846 | C | CATATATA others(187): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0276 | 1 | 301 | 0.0033 | 194 | c.88- others(211): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 46006295 | A | AGCGGTGG others(187): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0030 | 1 | 126 | 0.0079 | 194 | c.*22 others(205): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1248 | chr21 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955479 | G | GATATATA others(187): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA19086.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0003 a0001c0001t0003g0070 a0001c0001t0012g0075 |
3 | 288 | 0.0104 | 194 | c.*56 others(205): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1733 | chr22 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(187): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 156 | 0.0064 | 194 | c.*56 others(205): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1297798 | C | CCCTACTC others(187): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(22): Show |
25 | 129 | 0.1938 | 194 | c.810 others(211): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3411987 | T | TATGCACC others(187): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0041 | a0002c0041t0025 | a0002c0041t0025g0018 | 1 | 108 | 0.0093 | 194 | c.156 others(213): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33148534 | T | TAAAAATA others(187): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 339 | 0.0029 | 194 | c.28- others(209): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878372 | T | TATATATA others(187): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 178 | 0.0056 | 194 | c.192 others(213): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6421307 | T | TCAGCGCG others(187): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02895.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0001c0010others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0004g0360 a0001c0001t0004g0362 a0001c0001t0005g0359 others(9): Show |
12 | 128 | 0.0938 | 194 | c.121 others(211): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(187): Show |
upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0045 | 1 | 282 | 0.0035 | 194 | c.-11 others(205): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(187): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 282 | 0.0035 | 194 | c.-11 others(205): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44043563 | A | ATGTGTGT others(187): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 a0001c0002t0005g0045 |
2 | 283 | 0.0071 | 194 | c.-11 others(205): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1138 | chr7 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251048 | A | ATCCCCCA others(187): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 27 | 0.0370 | 194 | c.207 others(213): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212430 | A | ATTTACTC others(187): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 | 1 | 140 | 0.0071 | 194 | c.212 others(215): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478383 | G | GGAGAAGG others(187): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0047 | 1 | 57 | 0.0175 | 194 | c.158 others(211): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(187): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0035 | 1 | 57 | 0.0175 | 194 | c.158 others(211): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516565 | A | ACAGGGGG others(187): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 59 | 0.0169 | 194 | c.86- others(211): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 556272 | A | ACCCCTCC others(187): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0033 | 1 | 60 | 0.0167 | 194 | c.86- others(211): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1164217 | A | ATTTTGGT others(187): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0002 | 1 | 18 | 0.0556 | 194 | c.74- others(211): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174520 | C | CATATATA others(187): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 a0001c0001t0001g0319 |
2 | 189 | 0.0106 | 194 | c.22- others(211): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174520 | C | CATATATA others(187): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(1): Show |
4 | 191 | 0.0209 | 194 | c.22- others(211): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DOP1A_chr6_83062671_83173471 | 83145212 | A | AATATGTA others(187): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 296 | 0.0034 | 194 | c.554 others(211): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | chr6 | TogoVar | |||||||
DUSP8_chr11_1549051_1577271 | 1550929 | C | CATCCTGC others(187): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0112 | 1 | 355 | 0.0028 | 194 | c.*55 others(205): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 3121 | chr11 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440824 | A | AATATATG others(187): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0111 | 1 | 273 | 0.0037 | 194 | c.-53 others(213): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116679122 | G | GGGGGTCA others(187): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03540.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013 | a0001c0001t0011g0008 a0001c0001t0011g0009 a0001c0001t0011g0012 others(1): Show |
4 | 327 | 0.0122 | 194 | c.290 others(213): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3331179 | G | GTGTATAC others(187): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 others(9): Show |
12 | 142 | 0.0845 | 194 | c.259 others(211): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar |