| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RERE_chr1_8347404_8822640 | 8669024 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 NA18973.hp2 NA20129.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0005 | a0001c0001t0003g0095a0001c0001t0003g0117a0001c0001t0006g0154others(1): Show | 4 | 204 | 0.0196 | -10 | c.-14 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8701314 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0109 | 1 | 204 | 0.0049 | -10 | c.-14 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8711157 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02723.hp1 others(3): Show |
a0001a0005 | a0001c0002a0001c0004a0001c0011others(1): Show | a0001c0002t0005a0001c0004t0040a0001c0011t0007others(1): Show | a0001c0002t0005g0110a0001c0004t0040g0199a0001c0011t0007g0027others(3): Show | 6 | 204 | 0.0294 | -10 | c.-14 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8715406 | GAGGCTGA others(3): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0032a0001c0005t0034 | a0001c0002t0002g0157a0001c0002t0032g0155a0001c0005t0034g0156 | 3 | 204 | 0.0147 | -10 | c.-14 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8771909 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0127 | 1 | 204 | 0.0049 | -10 | c.-14 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERGL_chr12_18075869_18095193 | 18085865 | TTTTTGAG others(3): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 402 | 0.0025 | -10 | c.110 others(25): Show |
RERGL | ENSG00000111404.7 | transcript | ENST00000538724.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERGL_chr12_18075869_18095193 | 18094186 | CATTCCTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0057 | 2 | 402 | 0.0050 | -10 | c.-40 others(21): Show |
RERGL | ENSG00000111404.7 | transcript | ENST00000538724.6 | protein_coding | 3994 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15106105 | CTTTTCTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(172): Show | 175 | 300 | 0.5833 | -10 | c.*29 others(21): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 1677 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15148847 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(6): Show | 9 | 300 | 0.0300 | -10 | c.62- others(27): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15169920 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG02896.hp2 HG02897.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(8): Show | 11 | 300 | 0.0367 | -10 | c.61+ others(27): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15175333 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0087a0001c0001t0002g0048a0001c0001t0002g0049others(4): Show | 7 | 300 | 0.0233 | -10 | c.61+ others(27): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15213996 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 300 | 0.0033 | -10 | c.61+ others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15214029 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 300 | 0.0033 | -10 | c.61+ others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15214031 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 300 | 0.0033 | -10 | c.61+ others(25): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RESF1_chr12_31954415_31998107 | 31978712 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00621.hp1 others(71): Show |
a0004a0011a0013others(7): Show | a0004c0004a0011c0012a0013c0014others(7): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(9): Show | a0004c0004t0001g0004a0004c0004t0001g0018a0004c0004t0001g0223others(60): Show | 74 | 452 | 0.1637 | -10 | c.-78 others(27): Show |
RESF1 | ENSG00000174718.12 | transcript | ENST00000312561.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RESP18_chr2_219322407_219338177 | 219323751 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02630.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0031 | 1 | 420 | 0.0024 | -10 | c.*37 others(21): Show |
RESP18 | ENSG00000182698.12 | transcript | ENST00000333527.6 | protein_coding | 3655 | chr2 | TogoVar | ||||||
| REST_chr4_56902900_56940844 | 56907401 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00733.hp2 others(36): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(3): Show | a0001c0001t0002g0028a0001c0001t0002g0073a0001c0001t0002g0100others(29): Show | 39 | 408 | 0.0956 | -10 | c.-82 others(19): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 498 | chr4 | TogoVar | ||||||
| RETREG1_chr5_16468053_16621997 | 16527800 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 294 | 0.0034 | -10 | c.458 others(29): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
| RETREG1_chr5_16468053_16621997 | 16540825 | CTGGCTAA others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 294 | 0.0034 | -10 | c.458 others(29): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
| RETREG1_chr5_16468053_16621997 | 16581526 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0003g0149a0001c0001t0003g0202a0001c0002t0002g0133others(3): Show | 6 | 294 | 0.0204 | -10 | c.321 others(27): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| RETREG1_chr5_16468053_16621997 | 16620983 | GGCCACCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0002t0004a0001c0004t0009 | a0001c0001t0008g0249a0001c0002t0004g0250a0001c0004t0009g0247others(1): Show | 4 | 294 | 0.0136 | -10 | c.-40 others(21): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3987 | chr5 | TogoVar | ||||||
| RETREG2_chr2_219173275_219190475 | 219188597 | TTTTTATT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(58): Show |
a0001a0003a0008 | a0001c0002a0001c0005a0001c0014others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(9): Show | a0001c0002t0003g0003a0001c0002t0004g0003a0001c0002t0006g0001others(13): Show | 61 | 430 | 0.1419 | -10 | c.*59 others(21): Show |
RETREG2 | ENSG00000144567.11 | transcript | ENST00000430297.7 | protein_coding | 3123 | chr2 | TogoVar | ||||||
| RETREG2_chr2_219173275_219190475 | 219189149 | CTGTGTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(100): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0001c0013others(4): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0011others(11): Show | a0001c0002t0003g0003a0001c0002t0003g0004a0001c0002t0004g0003others(17): Show | 103 | 430 | 0.2395 | -10 | c.*65 others(21): Show |
RETREG2 | ENSG00000144567.11 | transcript | ENST00000430297.7 | protein_coding | 3675 | chr2 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42577750 | CCGGCGAC others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0033 | 1 | 360 | 0.0028 | -10 | c.*40 others(21): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1764 | chr17 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42597581 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0015a0001c0001t0001g0061a0001c0001t0001g0062others(6): Show | 9 | 360 | 0.0250 | -10 | c.240 others(27): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42597611 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01358.hp2 NA18906.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0044a0001c0001t0001g0054a0001c0001t0004g0115 | 3 | 360 | 0.0083 | -10 | c.240 others(27): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42597613 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 360 | 0.0028 | -10 | c.240 others(27): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42597615 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 360 | 0.0028 | -10 | c.240 others(27): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| RETREG3_chr17_42574515_42614374 | 42597619 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(36): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0024others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0014others(30): Show | 39 | 360 | 0.1083 | -10 | c.240 others(27): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
| RET_chr10_43072069_43135351 | 43104762 | AGCACAGT others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0311 | 1 | 382 | 0.0026 | -10 | c.626 others(25): Show |
RET | ENSG00000165731.21 | transcript | ENST00000355710.8 | protein_coding | 3/19 | chr10 | TogoVar | ||||||
| RET_chr10_43072069_43135351 | 43107559 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
a0001a0008 | a0001c0001a0008c0035 | a0001c0001t0001a0001c0001t0008a0008c0035t0001 | a0001c0001t0001g0007a0001c0001t0001g0135a0001c0001t0001g0136others(5): Show | 10 | 382 | 0.0262 | -10 | c.106 others(29): Show |
RET | ENSG00000165731.21 | transcript | ENST00000355710.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| REV1_chr2_99395477_99495017 | 99453913 | AAAATCAA others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01261.hp2 HG02258.hp2 others(5): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0003c0003t0003a0005c0005t0001 | a0003c0003t0001g0064a0003c0003t0001g0065a0003c0003t0001g0066others(5): Show | 8 | 324 | 0.0247 | -10 | c.182 others(27): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 3/22 | chr2 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111303701 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02523.hp2 NA18939.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0004c0003t0006 | a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0144others(3): Show | 6 | 288 | 0.0208 | -10 | c.925 others(29): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111338312 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG06807.hp2 |
a0001a0002 | a0001c0006a0002c0009 | a0001c0006t0001a0002c0009t0003 | a0001c0006t0001g0060a0001c0006t0001g0063a0002c0009t0003g0264 | 3 | 288 | 0.0104 | -10 | c.753 others(29): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 21/31 | chr6 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111408602 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00639.hp1 others(110): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0018others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(21): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(109): Show | 113 | 288 | 0.3924 | -10 | c.404 others(27): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 3/31 | chr6 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111475014 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 | 1 | 288 | 0.0035 | -10 | c.139 others(27): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
| REXO1_chr19_1810248_1853483 | 1832914 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 HG03195.hp1 others(2): Show |
a0014a0030a0033 | a0014c0020a0030c0044a0033c0046 | a0014c0020t0001a0030c0044t0001a0033c0046t0001 | a0014c0020t0001g0008a0030c0044t0001g0148a0033c0046t0001g0147 | 5 | 380 | 0.0132 | -10 | c.158 others(27): Show |
REXO1 | ENSG00000079313.15 | transcript | ENST00000170168.9 | protein_coding | 1/15 | chr19 | TogoVar | ||||||
| REXO4_chr9_133401062_133423010 | 133408932 | CTTTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 NA19240.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0063a0007c0010t0001g0176 | 3 | 428 | 0.0070 | -10 | c.100 others(26): Show |
REXO4 | ENSG00000148300.12 | transcript | ENST00000371942.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
| REXO4_chr9_133401062_133423010 | 133408934 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0057 | 2 | 428 | 0.0047 | -10 | c.100 others(26): Show |
REXO4 | ENSG00000148300.12 | transcript | ENST00000371942.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
| REXO4_chr9_133401062_133423010 | 133422934 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 428 | 0.0023 | -10 | c.-51 others(21): Show |
REXO4 | ENSG00000148300.12 | transcript | ENST00000371942.8 | protein_coding | 4925 | chr9 | TogoVar | ||||||
| REXO5_chr16_20801527_20854665 | 20820512 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG01934.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100a0001c0001t0002g0103a0001c0001t0002g0112others(1): Show | 4 | 372 | 0.0108 | -10 | c.476 others(27): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| REXO5_chr16_20801527_20854665 | 20820536 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG01346.hp2 HG01952.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0002a0001c0005t0002 | a0001c0001t0002g0001a0001c0001t0002g0015a0001c0001t0002g0088others(6): Show | 14 | 372 | 0.0376 | -10 | c.476 others(27): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| REXO5_chr16_20801527_20854665 | 20820538 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 NA18940.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0086a0001c0001t0002g0094others(1): Show | 5 | 372 | 0.0134 | -10 | c.476 others(27): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| REXO5_chr16_20801527_20854665 | 20820540 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG02698.hp2 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0172a0001c0001t0003g0300a0001c0001t0003g0301 | 3 | 372 | 0.0081 | -10 | c.476 others(27): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RFC1_chr4_39282456_39371362 | 39337435 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02109.hp2 HG02723.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0002a0003c0006t0001 | a0001c0001t0001g0061a0001c0001t0001g0261a0001c0002t0002g0026others(3): Show | 6 | 276 | 0.0217 | -10 | c.331 others(27): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39339573 | CATTTTTA others(3): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 276 | 0.0036 | -10 | c.331 others(27): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39345430 | CTTGGTTG others(3): Show |
C | frameshift_variant | HIGH | NA19087.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0005 | 1 | 276 | 0.0036 | -10 | c.169 others(17): Show |
p.Lys others(4): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 3/25 | 299/4870 | 169/3444 | 57/1147 | chr4 | TogoVar | ||
| RFC1_chr4_39282456_39371362 | 39346219 | GTAATCCC others(3): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168 | 1 | 276 | 0.0036 | -10 | c.133 others(25): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39348100 | AATTCTCA others(3): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 276 | 0.0036 | -10 | c.133 others(27): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39348424 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01106.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0010 | a0001c0001t0003g0001a0001c0001t0003g0040a0001c0002t0002g0097others(11): Show | 15 | 276 | 0.0544 | -10 | c.132 others(27): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar |