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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0003g0225 others(2): Show |
5 | 97 | 0.0515 | 28 | c.-65 others(45): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
RECK_chr9_36031913_36129455 | 36048126 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02451.hp1 HG02486.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0008a0003c0006t0003 | a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0285 others(9): Show |
12 | 45 | 0.2667 | 28 | c.101 others(45): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1493708 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01884.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0080 others(3): Show |
12 | 14 | 0.8571 | 28 | c.116 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 65 | 0.0154 | 28 | c.164 others(43): 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(21): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 65 | 0.0154 | 28 | c.164 others(43): 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(21): Show |
intron_variant | MODIFIER | NA18975.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0020 |
2 | 66 | 0.0303 | 28 | c.164 others(43): 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(21): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 65 | 0.0154 | 28 | c.164 others(43): 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(21): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0041 a0001c0001t0001g0161 a0001c0001t0001g0235 others(2): Show |
5 | 107 | 0.0467 | 28 | c.505 others(45): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45043076 | A | AGACAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 380 | 0.0026 | 28 | c.*52 others(39): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 4885 | chr19 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103494365 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0010 | a0010c0061 | a0010c0061t0001 | a0010c0061t0001g0063 | 1 | 92 | 0.0109 | 28 | c.936 others(47): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 57/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103522830 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG01928.hp2 others(12): Show |
a0001a0002a0010others(4): Show | a0001c0005a0001c0008a0001c0024others(7): Show | a0001c0005t0002a0001c0008t0001a0001c0008t0004others(8): Show | a0001c0005t0002g0008 a0001c0008t0001g0114 a0001c0008t0001g0138 others(12): Show |
15 | 182 | 0.0824 | 28 | c.749 others(45): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 47/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103773430 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0106 | 1 | 182 | 0.0055 | 28 | c.544 others(45): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103816530 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 24 | 0.0417 | 28 | c.473 others(47): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31486393 | G | GAGAGAGA others(21): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01361.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 a0002c0002t0001g0065 |
2 | 339 | 0.0059 | 28 | c.*19 others(39): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1499 | chr20 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 17050141 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 50 | 0.0200 | 28 | c.908 others(45): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17093166 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0161 a0001c0001t0010g0138 |
2 | 151 | 0.0132 | 28 | c.151 others(49): 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(21): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02886.hp1 NA18967.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0002t0005g0136 |
3 | 38 | 0.0789 | 28 | c.128 others(47): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8375520 | A | ACTCAGCA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(23): Show | a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0036 others(53): Show |
56 | 160 | 0.3500 | 28 | c.128 others(47): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8375653 | C | CTTCCTCG others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0009 | a0001c0009t0041 | a0001c0009t0041g0198 | 1 | 198 | 0.0051 | 28 | c.128 others(47): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8375737 | C | CTTCCTCA others(21): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0107 | 1 | 197 | 0.0051 | 28 | c.128 others(47): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401038 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0013 | 1 | 131 | 0.0076 | 28 | c.128 others(49): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401069 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19005.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0023a0002c0006t0024 | a0001c0001t0023g0114 a0002c0006t0024g0081 |
2 | 114 | 0.0175 | 28 | c.128 others(49): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8496150 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0009 | a0001c0009t0041 | a0001c0009t0041g0198 | 1 | 178 | 0.0056 | 28 | c.100 others(45): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 9/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02523.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0068 a0001c0001t0003g0118 |
2 | 30 | 0.0667 | 28 | c.523 others(45): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 40 | 0.0250 | 28 | c.-14 others(49): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 40 | 0.0250 | 28 | c.-14 others(49): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023a0001c0001t0031 | a0001c0001t0003g0115 a0001c0001t0023g0114 a0001c0001t0031g0144 |
3 | 42 | 0.0714 | 28 | c.-14 others(49): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15126128 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 91 | 0.0110 | 28 | c.62- others(43): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15133146 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 77 | 0.0130 | 28 | c.62- others(45): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15161138 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02055.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0005 | a0001c0001t0001g0079 a0001c0001t0002g0048 a0001c0002t0005g0026 |
3 | 76 | 0.0395 | 28 | c.62- others(45): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56905329 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG01952.hp2 HG01975.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0016others(1): Show | a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0068 others(5): Show |
9 | 300 | 0.0300 | 28 | c.-28 others(39): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2570 | chr4 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56905347 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0100 | 1 | 146 | 0.0068 | 28 | c.-28 others(39): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2552 | chr4 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56905347 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0166 | 1 | 146 | 0.0068 | 28 | c.-28 others(39): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2552 | chr4 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56905347 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 146 | 0.0068 | 28 | c.-28 others(39): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2552 | chr4 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56905348 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0195 | 1 | 374 | 0.0027 | 28 | c.-28 others(39): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2551 | chr4 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16541739 | G | GGGAAGGA others(21): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 35 | 0.0286 | 28 | c.458 others(47): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422631 | C | CACATATA others(21): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 267 | 0.0037 | 28 | c.140 others(45): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
REXO1_chr19_1810248_1853483 | 1819918 | A | ACCCGCCG others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0041 | a0007c0041t0008 | a0007c0041t0008g0143 | 1 | 378 | 0.0026 | 28 | c.265 others(43): Show |
REXO1 | ENSG00000079313.15 | transcript | ENST00000170168.9 | protein_coding | 7/15 | chr19 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820512 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02300.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0173 |
2 | 305 | 0.0066 | 28 | c.476 others(45): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RFC3_chr13_33813149_33842500 | 33834329 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0017 others(2): Show |
9 | 349 | 0.0258 | 28 | c.810 others(43): 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(21): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 348 | 0.0029 | 28 | c.*32 others(39): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 2341 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124300800 | A | ATGGATGG others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0122 | 1 | 386 | 0.0026 | 28 | c.207 others(45): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124302826 | G | GAGGGCCG others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG01071.hp1 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0037 others(51): Show |
55 | 383 | 0.1436 | 28 | c.207 others(45): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124302826 | G | GGGGGCCG others(21): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0104 | 1 | 329 | 0.0030 | 28 | c.207 others(45): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124319964 | G | GGGTGGGA others(21): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0004 | a0004c0008 | a0004c0008t0035 | a0004c0008t0035g0169 | 1 | 378 | 0.0026 | 28 | c.*54 others(39): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 3941 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124319976 | A | ATCTTTCT others(21): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02257.hp1 |
a0003 | a0003c0006 | a0003c0006t0018 | a0003c0006t0018g0026 a0003c0006t0018g0033 a0003c0006t0018g0035 |
3 | 367 | 0.0082 | 28 | c.*54 others(39): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 3953 | chr12 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16345264 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0109 | 1 | 29 | 0.0345 | 28 | c.114 others(49): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16387570 | T | TTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03831.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0012 a0003c0004t0001g0030 |
2 | 17 | 0.1176 | 28 | c.442 others(45): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16404004 | A | ATATATAA others(21): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0081 | 1 | 210 | 0.0048 | 28 | c.441 others(45): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197616268 | C | CATTTTAT others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01516.hp1 HG01978.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0079 a0001c0001t0001g0091 others(14): Show |
17 | 107 | 0.1589 | 28 | c.105 others(45): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 6/8 | chr2 | TogoVar |