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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RFC1_chr4_39282456_39371362 | 39337435 | A | AGATGCTA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03490.hp1 NA19074.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0143 |
3 | 276 | 0.0109 | 20 | c.331 others(37): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39344713 | A | AGGTAGAG others(13): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 276 | 0.0036 | 20 | c.208 others(35): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 3/24 | chr4 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0007a0002c0005t0001 | a0001c0001t0001g0195 a0001c0001t0007g0255 a0001c0001t0007g0260 others(1): Show |
4 | 276 | 0.0145 | 20 | c.132 others(37): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RFC3_chr13_33813149_33842500 | 33834298 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02083.hp2 NA18948.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0092 a0001c0001t0002g0097 |
5 | 416 | 0.0120 | 20 | c.810 others(35): 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(13): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03654.hp2 HG03669.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0065 |
7 | 416 | 0.0168 | 20 | c.810 others(35): 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(13): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 438 | 0.0023 | 20 | c.*32 others(31): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 2341 | chr12 | TogoVar | |||||||
RFFL_chr17_35000990_35068707 | 35061869 | G | GGGGTTTC others(13): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0117 | 1 | 372 | 0.0027 | 20 | c.-9+ others(35): Show |
RFFL | ENSG00000092871.17 | transcript | ENST00000394597.7 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
RFK_chr9_76380526_76399426 | 76382319 | T | TTTTATTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG03209.hp2 NA18973.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0026 |
6 | 408 | 0.0147 | 20 | c.*50 others(31): Show |
RFK | ENSG00000135002.12 | transcript | ENST00000376736.6 | protein_coding | 3206 | chr9 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296072 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG03098.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0023a0001c0003t0009 | a0001c0002t0023g0140 a0001c0002t0023g0141 a0001c0003t0009g0142 |
3 | 388 | 0.0077 | 20 | c.207 others(35): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296122 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0137 | 1 | 388 | 0.0026 | 20 | c.207 others(35): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296139 | T | TTCTTCTC others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0140 | 1 | 388 | 0.0026 | 20 | c.207 others(35): 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(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01952.hp1 HG02056.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0214 others(20): Show |
23 | 388 | 0.0593 | 20 | c.208 others(37): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFNG_chr17_82042902_82056811 | 82043218 | G | GATGTTGC others(13): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 462 | 0.0022 | 20 | c.*55 others(31): Show |
RFNG | ENSG00000169733.12 | transcript | ENST00000310496.9 | protein_coding | 4683 | chr17 | TogoVar | |||||||
RFT1_chr3_53083483_53135435 | 53098427 | T | TGAGACAC others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02451.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0002g0010 a0001c0001t0002g0049 a0001c0001t0002g0104 others(22): Show |
27 | 324 | 0.0833 | 20 | c.120 others(37): Show |
RFT1 | ENSG00000163933.10 | transcript | ENST00000296292.8 | protein_coding | 11/12 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16313205 | A | ATTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0247 | 1 | 268 | 0.0037 | 20 | c.*36 others(31): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 2639 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16345264 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0004 | a0001c0001t0001g0055 a0002c0003t0003g0253 a0002c0003t0004g0168 |
3 | 268 | 0.0112 | 20 | c.114 others(41): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16387570 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0052 | 1 | 268 | 0.0037 | 20 | c.442 others(37): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16403907 | T | TTTTACAT others(13): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 268 | 0.0037 | 20 | c.441 others(37): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16403907 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18986.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0067 a0001c0005t0002g0194 |
2 | 268 | 0.0075 | 20 | c.441 others(37): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16404415 | C | CACAATAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(134): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 others(134): Show |
137 | 268 | 0.5112 | 20 | c.441 others(37): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197625663 | T | TCTCTCCT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0174 a0001c0001t0008g0007 |
2 | 312 | 0.0064 | 20 | c.928 others(37): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197625699 | C | CTCTCCTC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 others(79): Show |
82 | 312 | 0.2628 | 20 | c.928 others(37): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197626562 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0156 a0001c0001t0006g0157 |
2 | 312 | 0.0064 | 20 | c.928 others(37): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197629675 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03139.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0018 a0001c0001t0015g0047 a0001c0001t0015g0155 |
3 | 312 | 0.0096 | 20 | c.928 others(37): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197629696 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0037 | 1 | 312 | 0.0032 | 20 | c.928 others(37): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197665517 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02630.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0038 a0001c0001t0002g0067 a0001c0001t0002g0074 others(5): Show |
8 | 312 | 0.0256 | 20 | c.139 others(37): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13959894 | A | AGGTGGGC others(13): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03471.hp1 |
a0006 | a0006c0007 | a0006c0007t0012 | a0006c0007t0012g0018 a0006c0007t0012g0019 |
2 | 280 | 0.0071 | 20 | c.*28 others(31): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1635 | chr19 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13959894 | A | AGGTGGGC others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 others(104): Show |
109 | 280 | 0.3893 | 20 | c.*27 others(31): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1635 | chr19 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13959920 | G | GCCCAGGG others(13): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 280 | 0.0036 | 20 | c.*27 others(31): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1609 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 5990541 | A | AGGGGCGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG01993.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0121 a0001c0001t0001g0135 others(6): Show |
9 | 308 | 0.0292 | 20 | c.*42 others(31): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 2622 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6080202 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0264 | 1 | 308 | 0.0033 | 20 | c.-9+ others(37): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6113406 | G | GTAGATAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 308 | 0.0033 | 20 | c.-30 others(31): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 2907 | chr19 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3270081 | G | GGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0092 a0001c0001t0003g0055 a0001c0001t0003g0123 others(12): Show |
15 | 196 | 0.0765 | 20 | c.135 others(37): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 11/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3366693 | C | CCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113 | 1 | 196 | 0.0051 | 20 | c.118 others(39): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3366693 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02280.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0020 | a0001c0001t0005g0153 a0001c0001t0006g0044 a0001c0001t0020g0050 |
3 | 196 | 0.0153 | 20 | c.118 others(39): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3410161 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0052 a0001c0001t0004g0064 a0001c0001t0005g0030 others(4): Show |
7 | 196 | 0.0357 | 20 | c.-8- others(37): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3505264 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 196 | 0.0051 | 20 | c.-9+ others(37): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX4_chr12_106578004_106767803 | 106739125 | C | CAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0244 a0001c0002t0001g0016 a0001c0002t0001g0017 others(20): Show |
23 | 296 | 0.0777 | 20 | c.163 others(39): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFX6_chr6_116872242_116937161 | 116877064 | T | TCCCACCG others(13): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 HG01993.hp2 HG02148.hp2 others(2): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0002a0004c0005t0002 | a0001c0002t0002g0053 a0004c0005t0002g0019 a0004c0005t0002g0051 others(1): Show |
5 | 372 | 0.0134 | 20 | c.-21 others(29): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 177 | chr6 | TogoVar | |||||||
RFX6_chr6_116872242_116937161 | 116936488 | A | AAGAGAGA others(13): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG02074.hp1 HG02074.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0018 others(9): Show |
12 | 372 | 0.0323 | 20 | c.*49 others(31): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 4328 | chr6 | TogoVar | |||||||
RFX6_chr6_116872242_116937161 | 116936532 | G | GAGAGAGA others(13): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 372 | 0.0027 | 20 | c.*50 others(31): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 4372 | chr6 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56141656 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048 | a0001c0001t0001g0252 a0001c0001t0048g0249 |
2 | 360 | 0.0056 | 20 | c.401 others(37): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56224467 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG02071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0107 a0001c0002t0002g0044 a0001c0002t0002g0065 others(7): Show |
10 | 360 | 0.0278 | 20 | c.161 others(39): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
RGL3_chr19_11389060_11424314 | 11412693 | G | GCGGTGGC others(13): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0157 | 1 | 402 | 0.0025 | 20 | c.637 others(37): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
RGL3_chr19_11389060_11424314 | 11414153 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 402 | 0.0025 | 20 | c.637 others(37): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
RGL3_chr19_11389060_11424314 | 11414167 | A | ACACCTAT others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02886.hp2 |
a0004a0008 | a0004c0004a0008c0012 | a0004c0004t0001a0008c0012t0001 | a0004c0004t0001g0311 a0008c0012t0001g0100 a0008c0012t0001g0255 |
3 | 402 | 0.0075 | 20 | c.637 others(37): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
RGMA_chr15_93030271_93094211 | 93038569 | G | GTTTTTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01258.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0088a0001c0002t0090 | a0001c0002t0088g0223 a0001c0002t0090g0021 |
2 | 414 | 0.0048 | 20 | c.*64 others(31): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 4/4 | 6428 | chr15 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93043244 | G | GCACACAG others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(106): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0014a0001c0001t0015a0001c0001t0020others(78): Show | a0001c0001t0014g0123 a0001c0001t0015g0008 a0001c0001t0015g0130 others(100): Show |
109 | 414 | 0.2633 | 20 | c.*17 others(31): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 4/4 | 1753 | chr15 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93043244 | G | GCGCACAG others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0019a0001c0001t0027a0001c0001t0030others(64): Show | a0001c0001t0019g0005 a0001c0001t0019g0119 a0001c0001t0027g0025 others(87): Show |
93 | 414 | 0.2246 | 20 | c.*17 others(31): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 4/4 | 1753 | chr15 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93043258 | A | ACGCGCAC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0169 | a0001c0002t0169g0074 | 1 | 414 | 0.0024 | 20 | c.*17 others(31): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 4/4 | 1739 | chr15 | TogoVar |