| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RBPJ_chr4_26316014_26439923 | 26384956 | CCCTCCCC others(17): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 316 | 0.0032 | -24 | c.21- others(39): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30511480 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0025a0001c0001t0001g0185a0001c0001t0003g0161others(1): Show | 4 | 304 | 0.0132 | -24 | c.397 others(41): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30519458 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0014others(58): Show | 61 | 304 | 0.2007 | -24 | c.397 others(43): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBSN_chr3_15065073_15104148 | 15078779 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0057others(5): Show | 11 | 360 | 0.0306 | -24 | c.912 others(39): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | ||||||
| RCAN1_chr21_34511442_34620113 | 34618861 | AGCGAATC others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03688.hp1 HG03704.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299a0001c0001t0001g0300a0001c0001t0001g0301 | 3 | 378 | 0.0079 | -24 | c.-38 others(35): Show |
RCAN1 | ENSG00000159200.18 | transcript | ENST00000313806.9 | protein_coding | 3749 | chr21 | TogoVar | ||||||
| RCC1_chr1_28501043_28543989 | 28533845 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0120a0001c0003t0001g0180a0001c0003t0001g0215others(11): Show | 14 | 294 | 0.0476 | -24 | c.442 others(41): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RCC1_chr1_28501043_28543989 | 28543235 | AAAAAATA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0216a0001c0001t0004g0220 | 2 | 294 | 0.0068 | -24 | c.*52 others(35): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4247 | chr1 | TogoVar | ||||||
| RCL1_chr9_4787944_4866066 | 4806587 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 386 | 0.0026 | -24 | c.136 others(43): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RCN2_chr15_76926749_76959393 | 76953571 | ATATATAT others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02886.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0191a0001c0001t0192 | a0001c0001t0191g0051a0001c0001t0192g0051 | 2 | 422 | 0.0047 | -24 | c.*43 others(35): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4351 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
| RCN3_chr19_49523003_49548633 | 49544650 | GACAGAGA others(17): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | -24 | c.*14 others(35): Show |
RCN3 | ENSG00000142552.8 | transcript | ENST00000270645.8 | protein_coding | 1018 | chr19 | TogoVar | ||||||
| RCOR1_chr14_102587649_102735561 | 102616206 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(72): Show |
a0001a0002a0003 | a0001c0001a0002c0007a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(72): Show | 75 | 292 | 0.2569 | -24 | c.361 others(43): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RCOR1_chr14_102587649_102735561 | 102653920 | CTTCTTTC others(17): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0011 | a0001c0001t0003g0015a0001c0002t0011g0054 | 2 | 292 | 0.0069 | -24 | c.362 others(43): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RCOR1_chr14_102587649_102735561 | 102692710 | CTCCTTCC others(17): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 292 | 0.0034 | -24 | c.446 others(41): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RDH10_chr8_73289602_73330281 | 73325952 | GGTGTGTG others(17): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0094a0001c0001t0002g0093a0001c0001t0005g0005others(1): Show | 4 | 396 | 0.0101 | -24 | c.*29 others(35): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 672 | chr8 | TogoVar | ||||||
| RDH16_chr12_56946431_56962608 | 56948148 | GGCTCTAC others(17): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0006a0001c0001t0010g0028 | 12 | 376 | 0.0319 | -24 | c.*38 others(35): Show |
RDH16 | ENSG00000139547.8 | transcript | ENST00000398138.5 | protein_coding | 3282 | chr12 | TogoVar | ||||||
| RECK_chr9_36031913_36129455 | 36073221 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp2 NA18961.hp2 NA18998.hp1 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0237a0002c0005t0001g0239a0002c0005t0001g0240others(2): Show | 5 | 392 | 0.0128 | -24 | c.406 others(41): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RECK_chr9_36031913_36129455 | 36099224 | TCAACAAC others(17): Show |
T | intron_variant | MODIFIER | HG03710.hp1 HG04228.hp2 |
a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0362a0001c0008t0010g0363 | 2 | 392 | 0.0051 | -24 | c.108 others(43): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| REEP5_chr5_112871385_112927227 | 112921636 | ACACGCTG others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0317 | 1 | 340 | 0.0029 | -24 | c.119 others(39): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| REG1A_chr2_79115488_79128409 | 79119187 | GATATATA others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0002g0002others(3): Show | 25 | 452 | 0.0553 | -24 | c.-13 others(35): Show |
REG1A | ENSG00000115386.6 | transcript | ENST00000233735.2 | protein_coding | 1300 | chr2 | TogoVar | ||||||
| RELB_chr19_44996464_45043192 | 45043093 | GGGTGCCA others(17): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 382 | 0.0026 | -24 | c.*53 others(35): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 4902 | chr19 | TogoVar | ||||||
| RELCH_chr18_62182255_62315249 | 62253267 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0041 | a0001c0004t0041g0034 | 1 | 340 | 0.0029 | -24 | c.182 others(41): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RELL1_chr4_37605634_37691376 | 37633408 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(76): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0298a0001c0001t0002g0009a0001c0001t0002g0042others(76): Show | 79 | 324 | 0.2438 | -24 | c.680 others(41): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103491852 | TCTCTCAC others(17): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0029 | a0002c0029t0002 | a0002c0029t0002g0031 | 1 | 184 | 0.0054 | -24 | c.944 others(40): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 58/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103773100 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02615.hp1 HG02717.hp2 others(2): Show |
a0001a0018a0031 | a0001c0002a0001c0007a0018c0068others(1): Show | a0001c0002t0001a0001c0002t0011a0001c0007t0001others(2): Show | a0001c0002t0001g0083a0001c0002t0011g0177a0001c0007t0001g0115others(2): Show | 5 | 184 | 0.0272 | -24 | c.544 others(41): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103826062 | AATGGGTT others(17): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03540.hp1 HG03579.hp2 |
a0002a0008 | a0002c0010a0008c0026 | a0002c0010t0009a0008c0026t0006 | a0002c0010t0009g0184a0008c0026t0006g0039a0008c0026t0006g0040 | 3 | 184 | 0.0163 | -24 | c.473 others(41): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103826319 | AATGTGTG others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(13): Show | a0001c0001t0001g0066a0001c0001t0002g0030a0001c0002t0003g0167others(15): Show | 18 | 184 | 0.0978 | -24 | c.473 others(41): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | ||||||
| REM1_chr20_31470288_31489895 | 31486392 | CGAGAGAG others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 HG06807.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005 | a0002c0002t0004g0039a0002c0002t0004g0089a0002c0002t0005g0050 | 3 | 344 | 0.0087 | -24 | c.*19 others(35): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1498 | chr20 | TogoVar | ||||||
| REM1_chr20_31470288_31489895 | 31486407 | CAGAGAGA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0035 | 2 | 344 | 0.0058 | -24 | c.*19 others(35): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1513 | chr20 | TogoVar | ||||||
| REPS2_chrX_16941658_17158272 | 17046633 | TGTTTTCT others(17): Show |
T | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 166 | 0.0060 | -24 | c.772 others(39): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RERE_chr1_8347404_8822640 | 8509414 | ATCCATCC others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0015others(40): Show | 43 | 204 | 0.2108 | -24 | c.831 others(39): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8531066 | TATCTAAC others(17): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0145 | 1 | 204 | 0.0049 | -24 | c.830 others(43): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8564814 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0005 | a0005c0013 | a0005c0013t0021 | a0005c0013t0021g0023 | 1 | 204 | 0.0049 | -24 | c.523 others(41): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15161138 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02055.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0165a0001c0001t0001g0268a0001c0001t0003g0099others(4): Show | 7 | 300 | 0.0233 | -24 | c.62- others(41): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15161206 | GAAAGAAA others(17): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG02486.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0138a0001c0001t0001g0205a0001c0001t0001g0206others(1): Show | 4 | 300 | 0.0133 | -24 | c.62- others(41): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15195551 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 300 | 0.0033 | -24 | c.61+ others(41): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RETNLB_chr3_108750638_108762410 | 108759494 | TATATGTA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 2 | 452 | 0.0044 | -24 | c.-23 others(35): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | ||||||
| RETREG1_chr5_16468053_16621997 | 16541739 | GGGAAGGA others(17): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG01261.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0009others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0003g0074others(4): Show | 7 | 294 | 0.0238 | -24 | c.458 others(43): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
| REV1_chr2_99395477_99495017 | 99459067 | GCGTGGTG others(17): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240 | 1 | 324 | 0.0031 | -24 | c.181 others(41): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 3/22 | chr2 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111303677 | TTTTTTTT others(17): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 288 | 0.0035 | -24 | c.925 others(43): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111422656 | ATATATAC others(17): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0231 | 1 | 288 | 0.0035 | -24 | c.140 others(41): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
| REXO5_chr16_20801527_20854665 | 20820528 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 372 | 0.0027 | -24 | c.476 others(41): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RFC2_chr7_74226502_74259399 | 74240589 | AGGCCTCA others(17): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 326 | 0.0031 | -24 | c.536 others(39): Show |
RFC2 | ENSG00000049541.11 | transcript | ENST00000055077.8 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
| RFC3_chr13_33813149_33842500 | 33834298 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03225.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0050a0001c0002t0001g0051a0001c0002t0001g0115others(2): Show | 6 | 416 | 0.0144 | -24 | c.810 others(39): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RFK_chr9_76380526_76399426 | 76394474 | CCGGCCTC others(17): Show |
C | upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 408 | 0.0025 | -24 | c.-32 others(33): Show |
RFK | ENSG00000135002.12 | transcript | ENST00000376736.6 | protein_coding | 49 | chr9 | TogoVar | ||||||
| RFLNA_chr12_124290093_124321024 | 124320131 | TAGGTGGG others(17): Show |
T | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360 | 1 | 388 | 0.0026 | -24 | c.*56 others(35): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 4108 | chr12 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16345812 | GTGTGTGC others(17): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0147 | 2 | 268 | 0.0075 | -24 | c.114 others(45): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16345820 | GCGCGCGC others(17): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0240 | 1 | 268 | 0.0037 | -24 | c.114 others(45): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| RFX1_chr19_13956530_14011320 | 13994893 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01515.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0215a0001c0001t0002g0164a0001c0001t0002g0216others(3): Show | 6 | 280 | 0.0214 | -24 | c.-52 others(40): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3270081 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0157 | 1 | 196 | 0.0051 | -24 | c.135 others(41): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 11/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3320768 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0165 | 1 | 196 | 0.0051 | -24 | c.474 others(41): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 4/16 | chr9 | TogoVar |