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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01981.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(4): Show |
7 | 350 | 0.0200 | 15 | c.6+3 others(26): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167701317 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0049 | a0001c0001t0002g0209 a0001c0001t0049g0211 |
2 | 350 | 0.0057 | 15 | c.121 others(34): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RD3L_chr14_103935426_103947529 | 103939743 | G | GTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 HG02602.hp2 HG02615.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0005g0009 |
14 | 440 | 0.0318 | 15 | c.*10 others(26): Show |
RD3L | ENSG00000227729.5 | transcript | ENST00000557640.2 | protein_coding | 682 | chr14 | TogoVar | |||||||
RDH13_chr19_55039316_55068148 | 55063061 | A | AGGCGTCA others(8): Show |
5_prime_UTR_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0187 | 1 | 377 | 0.0027 | 15 | c.-30 others(22): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1/7 | 30 | chr19 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110265097 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0274 | 1 | 376 | 0.0027 | 15 | c.97- others(28): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 3/13 | chr11 | TogoVar | |||||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03225.hp1 NA18961.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(1): Show |
4 | 376 | 0.0106 | 15 | c.-65 others(32): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
REC114_chr15_73438164_73565013 | 73462884 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 others(2): Show |
5 | 188 | 0.0266 | 15 | c.160 others(34): Show |
REC114 | ENSG00000183324.11 | transcript | ENST00000331090.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36082152 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0321 a0002c0003t0001g0258 |
2 | 392 | 0.0051 | 15 | c.440 others(32): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 7/20 | chr9 | TogoVar | |||||||
RECK_chr9_36031913_36129455 | 36104327 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 392 | 0.0026 | 15 | c.143 others(32): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 12/20 | chr9 | TogoVar | |||||||
RECQL_chr12_21463910_21506635 | 21501501 | G | GGTGTCCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0053 | 1 | 404 | 0.0025 | 15 | c.-39 others(24): Show |
RECQL | ENSG00000004700.16 | transcript | ENST00000444129.7 | protein_coding | 1/15 | 1932 | chr12 | TogoVar | ||||||
REEP1_chr2_86208993_86342626 | 86226075 | T | TCACCACC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03239.hp2 HG04199.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0003a0001c0001t0031a0001c0002t0010others(1): Show | a0001c0001t0003g0139 a0001c0001t0003g0316 a0001c0001t0031g0089 others(2): Show |
5 | 320 | 0.0156 | 15 | c.631 others(32): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86342181 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02257.hp1 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0003g0050 a0001c0001t0003g0056 a0001c0001t0003g0139 others(16): Show |
19 | 320 | 0.0594 | 15 | c.-46 others(26): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 4556 | chr2 | TogoVar | |||||||
REEP3_chr10_63516401_63630128 | 63589785 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0038 | a0001c0001t0014g0001 a0001c0001t0014g0009 a0001c0001t0014g0010 others(1): Show |
4 | 284 | 0.0141 | 15 | c.106 others(32): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REEP3_chr10_63516401_63630128 | 63622705 | C | CTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0068a0001c0001t0069a0001c0001t0070 | a0001c0001t0068g0091 a0001c0001t0069g0201 a0001c0001t0070g0205 |
3 | 284 | 0.0106 | 15 | c.*18 others(26): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 8/8 | 1857 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
REEP4_chr8_22133020_22146907 | 22139618 | A | ACCCAGCC others(8): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 400 | 0.0025 | 15 | c.304 others(29): Show |
REEP4 | ENSG00000168476.12 | transcript | ENST00000306306.8 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1490893 | G | GCCCCCCC others(8): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 a0001c0001t0002g0061 |
2 | 318 | 0.0063 | 15 | c.-37 others(24): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 287 | chr19 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37612636 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0254 | 1 | 324 | 0.0031 | 15 | c.*69 others(24): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 7/7 | 18751 | chr4 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103518505 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03471.hp1 NA20300.hp1 |
a0004a0038 | a0004c0017a0038c0075 | a0004c0017t0001a0038c0075t0001 | a0004c0017t0001g0122 a0038c0075t0001g0127 |
2 | 184 | 0.0109 | 15 | c.786 others(32): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 49/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103694467 | A | AGATGATG others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02896.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0005others(2): Show | a0001c0020a0002c0010a0005c0081others(2): Show | a0001c0020t0001a0002c0010t0009a0005c0081t0001others(2): Show | a0001c0020t0001g0068 a0002c0010t0009g0184 a0005c0081t0001g0157 others(2): Show |
5 | 184 | 0.0272 | 15 | c.114 others(34): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 10/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103898634 | A | AAGATGTA others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0068 | a0001c0068t0002 | a0001c0068t0002g0025 | 1 | 184 | 0.0054 | 15 | c.337 others(34): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103989356 | T | TGCCGCCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01070.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0002t0003a0001c0003t0003others(5): Show | a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0002t0003g0167 others(8): Show |
11 | 184 | 0.0598 | 15 | c.-15 others(21): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/65 | 1 | chr7 | TogoVar | ||||||
RELT_chr11_73371399_73402474 | 73401080 | T | TTTATTAT others(8): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 a0001c0001t0003g0106 |
2 | 340 | 0.0059 | 15 | c.*55 others(26): Show |
RELT | ENSG00000054967.13 | transcript | ENST00000064780.7 | protein_coding | 3607 | chr11 | TogoVar | |||||||
REM2_chr14_22878222_22892678 | 22888841 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 392 | 0.0026 | 15 | c.*19 others(26): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 1164 | chr14 | TogoVar | |||||||
REM2_chr14_22878222_22892678 | 22888998 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(12): Show |
47 | 392 | 0.1199 | 15 | c.*20 others(26): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 1321 | chr14 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138907313 | A | AAGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 HG02165.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0051 a0001c0001t0002g0067 a0001c0001t0002g0071 others(14): Show |
17 | 390 | 0.0436 | 15 | c.232 others(32): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 19/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138935856 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03942.hp1 NA19057.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0327 a0001c0002t0003g0361 a0001c0002t0003g0367 |
3 | 390 | 0.0077 | 15 | c.113 others(34): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 8/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138935870 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0368 | 1 | 390 | 0.0026 | 15 | c.113 others(34): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 8/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138955457 | A | AAGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0127 a0001c0001t0001g0132 others(33): Show |
37 | 390 | 0.0949 | 15 | c.154 others(32): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138969269 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 others(10): Show |
13 | 390 | 0.0333 | 15 | c.153 others(34): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 16951559 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0025 a0001c0001t0023g0026 |
2 | 166 | 0.0121 | 15 | c.273 others(32): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17012380 | A | AAACAACA others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0139 a0001c0001t0010g0140 |
2 | 166 | 0.0121 | 15 | c.397 others(32): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17093200 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0083 a0001c0001t0001g0091 others(3): Show |
6 | 166 | 0.0361 | 15 | c.151 others(36): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 17119868 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0141 a0001c0001t0010g0140 |
2 | 166 | 0.0121 | 15 | c.157 others(36): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RER1_chr1_2386841_2410436 | 2401381 | C | CCTCCTCC others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(68): Show |
102 | 354 | 0.2881 | 15 | c.365 others(30): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8383865 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 HG06807.hp1 |
a0001a0011 | a0001c0004a0001c0009a0011c0024 | a0001c0004t0040a0001c0009t0041a0011c0024t0039 | a0001c0004t0040g0199 a0001c0009t0041g0198 a0011c0024t0039g0197 |
3 | 204 | 0.0147 | 15 | c.128 others(36): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8385993 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0113 | 1 | 204 | 0.0049 | 15 | c.128 others(36): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8385993 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0155 | 1 | 204 | 0.0049 | 15 | c.128 others(36): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8401038 | C | CCATATAT others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0085 | 1 | 204 | 0.0049 | 15 | c.128 others(36): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8507737 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 204 | 0.0049 | 15 | c.879 others(30): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8512014 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02683.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0075 a0001c0001t0003g0141 a0001c0004t0001g0003 others(1): Show |
4 | 204 | 0.0196 | 15 | c.831 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8529287 | C | CTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0110 | 1 | 204 | 0.0049 | 15 | c.830 others(34): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8545982 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02965.hp1 |
a0001 | a0001c0005a0001c0010 | a0001c0005t0009a0001c0010t0007 | a0001c0005t0009g0201 a0001c0010t0007g0034 |
2 | 204 | 0.0098 | 15 | c.726 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8556609 | T | TTTCCCAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0011 | a0001c0011t0007 | a0001c0011t0007g0029 | 1 | 204 | 0.0049 | 15 | c.629 others(28): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 5/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02080.hp1 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0065 others(10): Show |
13 | 204 | 0.0637 | 15 | c.523 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8559296 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0121 | 1 | 204 | 0.0049 | 15 | c.523 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8559304 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0066 |
2 | 204 | 0.0098 | 15 | c.523 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8605845 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0032a0001c0005t0034 | a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0005t0034g0156 |
3 | 204 | 0.0147 | 15 | c.522 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8607534 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02896.hp1 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0004a0001c0015t0001 | a0001c0003t0004g0035 a0001c0015t0001g0009 |
2 | 204 | 0.0098 | 15 | c.522 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8617343 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01255.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0040 others(15): Show |
18 | 204 | 0.0882 | 15 | c.397 others(32): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8635977 | C | CTTATCTT others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0126 | 1 | 204 | 0.0049 | 15 | c.326 others(34): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2/22 | chr1 | TogoVar |