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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
REEP6_chr19_1486181_1502927 | 1490893 | G | GCCCCCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0053 a0001c0001t0003g0044 |
2 | 318 | 0.0063 | 22 | c.-37 others(31): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 287 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1493708 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(46): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0118 others(27): Show |
49 | 318 | 0.1541 | 22 | c.116 others(39): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | 382 | 0.0052 | 22 | c.164 others(37): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 NA18988.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0238 others(2): Show |
5 | 382 | 0.0131 | 22 | c.164 others(37): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01071.hp2 HG01361.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0001a0001c0001t0002a0002c0013t0001 | a0001c0001t0001g0143 a0001c0001t0001g0302 a0001c0001t0002g0061 others(1): Show |
4 | 382 | 0.0105 | 22 | c.164 others(37): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0350 | 1 | 382 | 0.0026 | 22 | c.164 others(37): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45017449 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 382 | 0.0026 | 22 | c.505 others(39): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45035539 | C | CAACAACA others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0001g0365 others(1): Show |
4 | 382 | 0.0105 | 22 | c.135 others(41): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103494365 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02717.hp2 others(1): Show |
a0001a0006a0017 | a0001c0005a0001c0068a0006c0013others(1): Show | a0001c0005t0001a0001c0068t0002a0006c0013t0002others(1): Show | a0001c0005t0001g0037 a0001c0068t0002g0025 a0006c0013t0002g0018 others(1): Show |
4 | 184 | 0.0217 | 22 | c.936 others(41): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 57/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103494392 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0114 | 1 | 184 | 0.0054 | 22 | c.936 others(41): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 57/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103518505 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19043.hp1 |
a0004 | a0004c0017a0004c0065 | a0004c0017t0004a0004c0065t0001 | a0004c0017t0004g0163 a0004c0065t0001g0147 |
2 | 184 | 0.0109 | 22 | c.786 others(39): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 49/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103773436 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01169.hp1 HG02083.hp1 others(12): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0132 a0001c0002t0001g0083 a0001c0002t0001g0086 others(12): Show |
15 | 184 | 0.0815 | 22 | c.544 others(39): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103777883 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0009 | a0009c0025 | a0009c0025t0006 | a0009c0025t0006g0039 | 1 | 184 | 0.0054 | 22 | c.474 others(39): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103977310 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18906.hp2 |
a0001a0006 | a0001c0005a0006c0013 | a0001c0005t0002a0006c0013t0002 | a0001c0005t0002g0032 a0006c0013t0002g0022 |
2 | 184 | 0.0109 | 22 | c.226 others(41): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELT_chr11_73371399_73402474 | 73377269 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG02280.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0140 a0001c0001t0003g0026 a0001c0001t0003g0041 others(9): Show |
21 | 340 | 0.0618 | 22 | c.-26 others(37): Show |
RELT | ENSG00000054967.13 | transcript | ENST00000064780.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
REPS1_chr6_138898493_138993253 | 138921976 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18956.hp1 NA19070.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0029 a0002c0003t0004g0030 a0002c0003t0004g0036 others(1): Show |
4 | 390 | 0.0103 | 22 | c.133 others(39): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 10/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138969269 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01516.hp1 HG03098.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0237 |
3 | 390 | 0.0077 | 22 | c.153 others(41): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 17093166 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 166 | 0.0060 | 22 | c.151 others(43): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8372507 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02155.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0030a0001c0002t0005others(2): Show | a0001c0001t0001g0077 a0001c0001t0030g0143 a0001c0002t0005g0128 others(5): Show |
8 | 204 | 0.0392 | 22 | c.128 others(41): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8400222 | A | ATATGTGT others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02165.hp1 HG02293.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0006a0003c0008 | a0001c0001t0003a0001c0001t0016a0002c0006t0003others(1): Show | a0001c0001t0003g0104 a0001c0001t0016g0054 a0002c0006t0003g0090 others(3): Show |
6 | 204 | 0.0294 | 22 | c.128 others(43): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401038 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0032 | 1 | 204 | 0.0049 | 22 | c.128 others(43): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401069 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0037 |
2 | 204 | 0.0098 | 22 | c.128 others(43): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8512014 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02074.hp2 HG03491.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0004 | a0001c0001t0001g0043 a0001c0001t0003g0124 a0001c0003t0004g0017 |
3 | 204 | 0.0147 | 22 | c.831 others(39): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8516227 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03579.hp1 HG04115.hp1 NA18944.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0006a0001c0002t0032a0002c0006t0003 | a0001c0001t0006g0181 a0001c0002t0032g0155 a0002c0006t0003g0097 |
3 | 204 | 0.0147 | 22 | c.831 others(39): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8545982 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0199 | 1 | 204 | 0.0049 | 22 | c.726 others(39): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02280.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0015 | a0001c0003t0004g0014 a0001c0003t0015g0147 |
2 | 204 | 0.0098 | 22 | c.523 others(39): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8668924 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03669.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0005 | a0001c0001t0003g0087 a0001c0004t0005g0079 |
2 | 204 | 0.0098 | 22 | c.-14 others(43): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8711157 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0011 | a0011c0024 | a0011c0024t0039 | a0011c0024t0039g0197 | 1 | 204 | 0.0049 | 22 | c.-14 others(43): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8809157 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0004t0022 | a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 others(3): Show |
6 | 204 | 0.0294 | 22 | c.-14 others(41): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8815829 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0105 | 1 | 204 | 0.0049 | 22 | c.-14 others(41): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15126128 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0132 a0001c0001t0001g0208 others(9): Show |
12 | 300 | 0.0400 | 22 | c.62- others(37): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15161138 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 300 | 0.0033 | 22 | c.62- others(39): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15212042 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 300 | 0.0033 | 22 | c.61+ others(37): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56905329 | A | AATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 NA18964.hp2 NA19002.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0001c0001t0006a0005c0005t0003 | a0001c0001t0003g0035 a0001c0001t0003g0164 a0001c0001t0006g0184 others(1): Show |
4 | 408 | 0.0098 | 22 | c.-28 others(33): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2570 | chr4 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56905347 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02109.hp1 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0017 a0001c0001t0001g0094 a0002c0002t0007g0275 |
4 | 408 | 0.0098 | 22 | c.-28 others(33): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2552 | chr4 | TogoVar | |||||||
RETN_chr19_7664049_7675455 | 7674859 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 NA18952.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 |
3 | 458 | 0.0066 | 22 | c.*45 others(33): Show |
RETN | ENSG00000104918.8 | transcript | ENST00000221515.6 | protein_coding | 4405 | chr19 | TogoVar | |||||||
RET_chr10_43072069_43135351 | 43133686 | T | TGCAACGA others(15): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 382 | 0.0026 | 22 | c.*54 others(33): Show |
RET | ENSG00000165731.21 | transcript | ENST00000355710.8 | protein_coding | 3336 | chr10 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111465756 | A | ACAAACAA others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(16): Show |
a0003 | a0003c0005a0003c0008 | a0003c0005t0004a0003c0008t0004 | a0003c0005t0004g0267 a0003c0005t0004g0268 a0003c0005t0004g0269 others(15): Show |
19 | 288 | 0.0660 | 22 | c.139 others(41): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820512 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01071.hp2 HG01123.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0166 a0001c0001t0001g0186 others(4): Show |
8 | 372 | 0.0215 | 22 | c.476 others(39): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820544 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 372 | 0.0027 | 22 | c.476 others(39): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39329127 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18961.hp2 NA19082.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0122 a0001c0002t0002g0070 a0001c0002t0002g0107 others(2): Show |
5 | 276 | 0.0181 | 22 | c.332 others(39): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | |||||||
RFC3_chr13_33813149_33842500 | 33834298 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG03516.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0088 others(2): Show |
10 | 416 | 0.0240 | 22 | c.810 others(37): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RFC3_chr13_33813149_33842500 | 33834298 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 416 | 0.0024 | 22 | c.810 others(37): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RFC3_chr13_33813149_33842500 | 33834329 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01891.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0081 others(2): Show |
10 | 416 | 0.0240 | 22 | c.810 others(37): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RFC5_chr12_118011703_118037234 | 118034574 | G | GCTCTCTC others(15): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 438 | 0.0023 | 22 | c.*32 others(33): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 2341 | chr12 | TogoVar | |||||||
RFC5_chr12_118011703_118037234 | 118034574 | G | GCTCTCTC others(15): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG02015.hp1 HG02135.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 others(11): Show |
21 | 438 | 0.0480 | 22 | c.*32 others(33): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 2341 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296163 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0368 | 1 | 388 | 0.0026 | 22 | c.207 others(37): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296181 | C | CTTTTCTT others(15): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0226 | 1 | 388 | 0.0026 | 22 | c.207 others(37): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296484 | T | TCCCTGCC others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02602.hp1 HG02735.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0032others(1): Show | a0001c0001t0005g0121 a0001c0001t0005g0126 a0001c0001t0005g0231 others(8): Show |
11 | 388 | 0.0284 | 22 | c.207 others(37): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124310172 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG02083.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0213 a0001c0001t0001g0285 a0001c0001t0005g0055 others(3): Show |
6 | 388 | 0.0155 | 22 | c.208 others(39): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |