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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF150_chr4_140854807_141138469 | 141044771 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(5): Show | a0001c0001t0004g0035 a0001c0001t0009g0134 a0001c0001t0009g0135 others(7): Show |
10 | 184 | 0.0544 | 18 | c.485 others(37): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RNF152_chr18_61803067_61898007 | 61810272 | G | GGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0297 | 1 | 310 | 0.0032 | 18 | c.*55 others(29): Show |
RNF152 | ENSG00000176641.11 | transcript | ENST00000312828.4 | protein_coding | 2/2 | 5579 | chr18 | TogoVar | ||||||
RNF157_chr17_76137474_76245493 | 76182760 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(4): Show | a0001c0001t0001g0008 a0001c0001t0014g0003 a0001c0002t0002g0180 others(8): Show |
11 | 234 | 0.0470 | 18 | c.208 others(35): Show |
RNF157 | ENSG00000141576.16 | transcript | ENST00000269391.11 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RNF157_chr17_76137474_76245493 | 76202128 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0121 | 1 | 234 | 0.0043 | 18 | c.207 others(37): Show |
RNF157 | ENSG00000141576.16 | transcript | ENST00000269391.11 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RNF157_chr17_76137474_76245493 | 76202128 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 234 | 0.0043 | 18 | c.207 others(37): Show |
RNF157 | ENSG00000141576.16 | transcript | ENST00000269391.11 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RNF169_chr11_74743849_74847413 | 74765770 | C | CCAGCCTG others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0083 | 1 | 354 | 0.0028 | 18 | c.502 others(37): Show |
RNF169 | ENSG00000166439.6 | transcript | ENST00000299563.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RNF170_chr8_42848301_42901605 | 42896748 | A | AGCGGCGG others(11): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 NA18946.hp2 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0003g0161 |
3 | 208 | 0.0144 | 18 | c.-29 others(27): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 144 | chr8 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24797705 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0127 | 1 | 426 | 0.0024 | 18 | c.139 others(37): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24797705 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0347 a0002c0003t0001g0348 |
2 | 426 | 0.0047 | 18 | c.139 others(37): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24797705 | A | AGTTTGTG others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01255.hp1 others(14): Show |
a0001a0003a0018 | a0001c0001a0003c0006a0003c0007others(1): Show | a0001c0001t0001a0003c0006t0001a0003c0007t0001others(1): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0276 others(14): Show |
17 | 426 | 0.0399 | 18 | c.139 others(37): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24858575 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01168.hp1 HG01255.hp2 others(15): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0001 | a0001c0001t0001g0088 a0001c0001t0001g0144 a0001c0001t0001g0206 others(15): Show |
18 | 426 | 0.0423 | 18 | c.361 others(35): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 25/35 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24881903 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0151 | 1 | 426 | 0.0024 | 18 | c.*21 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1983 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881925 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 NA19057.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0110 a0004c0004t0002g0113 |
2 | 426 | 0.0047 | 18 | c.*21 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2005 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882053 | T | TATAGATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG02615.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0340 a0002c0003t0001g0342 |
2 | 426 | 0.0047 | 18 | c.*23 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2133 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882071 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 426 | 0.0024 | 18 | c.*23 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2151 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882089 | T | TATAGATA others(11): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 NA19074.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0261 a0001c0001t0001g0305 |
3 | 426 | 0.0070 | 18 | c.*23 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2169 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882090 | A | ATAGATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0028 | a0004c0028t0002 | a0004c0028t0002g0136 | 1 | 426 | 0.0024 | 18 | c.*23 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2170 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882117 | T | TAGATACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0150 | 1 | 426 | 0.0024 | 18 | c.*23 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2197 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882133 | G | GATACATC others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02273.hp1 NA18963.hp2 others(4): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0002a0004c0004t0002 | a0002c0003t0002g0334 a0002c0003t0002g0365 a0002c0003t0002g0376 others(4): Show |
7 | 426 | 0.0164 | 18 | c.*24 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2213 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882213 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 426 | 0.0024 | 18 | c.*24 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2293 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882233 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01433.hp2 HG01496.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0006others(1): Show | a0001c0002t0001a0002c0003t0001a0003c0006t0001others(1): Show | a0001c0002t0001g0309 a0002c0003t0001g0340 a0003c0006t0001g0089 others(7): Show |
10 | 426 | 0.0235 | 18 | c.*25 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2313 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882237 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03098.hp2 others(1): Show |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0006 a0003c0007t0001g0008 a0003c0007t0001g0022 others(1): Show |
4 | 426 | 0.0094 | 18 | c.*25 others(29): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2317 | chr13 | TogoVar | |||||||
RNF180_chr5_64160843_64377869 | 64192903 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0026 a0001c0001t0002g0174 a0001c0001t0002g0209 others(6): Show |
9 | 250 | 0.0360 | 18 | c.1-7 others(31): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RNF180_chr5_64160843_64377869 | 64192903 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 250 | 0.0040 | 18 | c.1-7 others(31): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RNF180_chr5_64160843_64377869 | 64192903 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0062 a0002c0002t0008g0064 |
2 | 250 | 0.0080 | 18 | c.1-7 others(31): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RNF180_chr5_64160843_64377869 | 64301701 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0014g0055 others(1): Show |
4 | 250 | 0.0160 | 18 | c.122 others(39): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RNF182_chr6_13919952_13985310 | 13960692 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126 a0001c0001t0002g0067 |
2 | 356 | 0.0056 | 18 | c.-36 others(39): Show |
RNF182 | ENSG00000180537.13 | transcript | ENST00000488300.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF182_chr6_13919952_13985310 | 13960692 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0245 | 1 | 356 | 0.0028 | 18 | c.-36 others(39): Show |
RNF182 | ENSG00000180537.13 | transcript | ENST00000488300.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF182_chr6_13919952_13985310 | 13966840 | G | GTGCGCGT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0015a0001c0001t0028 | a0001c0001t0011g0092 a0001c0001t0015g0170 a0001c0001t0015g0171 others(1): Show |
4 | 356 | 0.0112 | 18 | c.-36 others(37): Show |
RNF182 | ENSG00000180537.13 | transcript | ENST00000488300.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF183_chr9_113292093_113308376 | 113298839 | G | GCCCTTCC others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(86): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(2): Show | a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0002g0025 others(10): Show |
89 | 440 | 0.2023 | 18 | c.-37 others(33): Show |
RNF183 | ENSG00000165188.14 | transcript | ENST00000489339.2 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
RNF183_chr9_113292093_113308376 | 113308170 | A | AAAAAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG02015.hp2 HG02074.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0053 others(1): Show |
12 | 440 | 0.0273 | 18 | c.-55 others(29): Show |
RNF183 | ENSG00000165188.14 | transcript | ENST00000489339.2 | protein_coding | 4795 | chr9 | TogoVar | |||||||
RNF183_chr9_113292093_113308376 | 113308170 | A | AAGAAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG04184.hp1 NA18939.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0020 |
6 | 440 | 0.0136 | 18 | c.-55 others(29): Show |
RNF183 | ENSG00000165188.14 | transcript | ENST00000489339.2 | protein_coding | 4795 | chr9 | TogoVar | |||||||
RNF183_chr9_113292093_113308376 | 113308208 | A | AAGAAAGA others(11): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | 18 | c.-55 others(29): Show |
RNF183 | ENSG00000165188.14 | transcript | ENST00000489339.2 | protein_coding | 4833 | chr9 | TogoVar | |||||||
RNF185_chr22_31155182_31212019 | 31182908 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG02165.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0166 a0001c0001t0002g0002 a0001c0001t0002g0209 others(13): Show |
18 | 378 | 0.0476 | 18 | c.-48 others(35): Show |
RNF185 | ENSG00000138942.17 | transcript | ENST00000326132.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RNF185_chr22_31155182_31212019 | 31189135 | A | ATATGTGT others(11): Show |
intron_variant | MODIFIER | HG02293.hp2 NA18942.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0231 a0001c0001t0002g0242 |
3 | 378 | 0.0079 | 18 | c.176 others(35): Show |
RNF185 | ENSG00000138942.17 | transcript | ENST00000326132.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RNF186_chr1_19809029_19820283 | 19811698 | A | ATGTCTAT others(11): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 476 | 0.0021 | 18 | c.*27 others(29): Show |
RNF186 | ENSG00000178828.7 | transcript | ENST00000375121.4 | protein_coding | 2330 | chr1 | TogoVar | |||||||
RNF19A_chr8_100252067_100314953 | 100256511 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 a0001c0001t0002g0149 |
2 | 350 | 0.0057 | 18 | c.*20 others(29): Show |
RNF19A | ENSG00000034677.13 | transcript | ENST00000341084.7 | protein_coding | 555 | chr8 | TogoVar | |||||||
RNF207_chr1_6201119_6226299 | 6214630 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18973.hp1 NA20805.hp2 |
a0003a0007 | a0003c0006a0007c0011 | a0003c0006t0003a0007c0011t0003 | a0003c0006t0003g0080 a0007c0011t0003g0093 |
2 | 366 | 0.0055 | 18 | c.165 others(37): Show |
RNF207 | ENSG00000158286.13 | transcript | ENST00000377939.5 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF212B_chr14_23232936_23278477 | 23238780 | A | AATAATAA others(11): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 368 | 0.0027 | 18 | c.-2+ others(31): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RNF212B_chr14_23232936_23278477 | 23238780 | A | AATAATCA others(11): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 368 | 0.0027 | 18 | c.-2+ others(31): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RNF212B_chr14_23232936_23278477 | 23242108 | G | GAAAAGAA others(11): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 368 | 0.0027 | 18 | c.101 others(35): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RNF212B_chr14_23232936_23278477 | 23261517 | C | CTGTGAAG others(11): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 368 | 0.0027 | 18 | c.434 others(33): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80260547 | G | GCGGCGGG others(11): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 292 | 0.0034 | 18 | c.-46 others(27): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 304 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80260577 | G | GCGGCGGG others(11): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 292 | 0.0034 | 18 | c.-43 others(27): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 274 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314430 | G | GAGGTGAT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 NA18942.hp1 |
a0001a0037a0042 | a0001c0003a0037c0145a0042c0103 | a0001c0003t0002a0037c0145t0035a0042c0103t0035 | a0001c0003t0002g0107 a0037c0145t0035g0174 a0042c0103t0035g0018 |
3 | 292 | 0.0103 | 18 | c.281 others(37): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314500 | T | TGGTGGTG others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0035 | a0035c0139 | a0035c0139t0001 | a0035c0139t0001g0284 | 1 | 292 | 0.0034 | 18 | c.281 others(37): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314712 | A | ATGGTGGT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 |
a0037a0042 | a0037c0145a0042c0103 | a0037c0145t0035a0042c0103t0035 | a0037c0145t0035g0174 a0042c0103t0035g0018 |
2 | 292 | 0.0069 | 18 | c.281 others(37): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80315417 | A | ATGGTGGT others(11): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 292 | 0.0034 | 18 | c.281 others(37): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF216_chr7_5615047_5786663 | 5671805 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0006a0001c0001t0022a0001c0001t0028others(1): Show | a0001c0001t0006g0042 a0001c0001t0006g0047 a0001c0001t0022g0043 others(2): Show |
5 | 274 | 0.0183 | 18 | c.206 others(39): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 13/16 | chr7 | TogoVar | |||||||
RNF216_chr7_5615047_5786663 | 5740104 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0162 | 1 | 274 | 0.0037 | 18 | c.104 others(35): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 4/16 | chr7 | TogoVar |