| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAB6A_chr11_73670638_73766074 | 73739276 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0134 | 1 | 354 | 0.0028 | 41 | c.71- others(56): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 314 | 0.0032 | 41 | c.53+ others(54): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RAB7A_chr3_128721183_128819798 | 128801450 | T | TTTCTCTC others(34): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(263): Show | 268 | 314 | 0.8535 | 41 | c.180 others(58): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RABEP2_chr16_28899421_28930238 | 28929934 | A | AGAGAGAG others(34): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 366 | 0.0027 | 41 | c.-47 others(52): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4697 | chr16 | TogoVar | ||||||
| RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 272 | 0.0037 | 41 | c.234 others(62): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19063.hp1 NA19068.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0003a0003c0004t0001 | a0001c0001t0001g0012a0001c0001t0001g0054a0001c0002t0003g0072others(1): Show | 4 | 272 | 0.0147 | 41 | c.234 others(62): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RAD50_chr5_132551977_132651349 | 132637395 | G | GAAAGACA others(34): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0035 | 1 | 276 | 0.0036 | 41 | c.347 others(58): Show |
RAD50 | ENSG00000113522.14 | transcript | ENST00000378823.8 | protein_coding | 22/24 | chr5 | TogoVar | ||||||
| RAD51B_chr14_67814779_68483093 | 68260318 | T | TGTGTGTG others(34): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 84 | 0.0119 | 41 | c.757 others(60): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RADIL_chr7_4792055_4888716 | 4794021 | T | TCTGTATC others(34): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03225.hp1 HG03471.hp1 |
a0013a0027 | a0013c0017a0027c0052 | a0013c0017t0024a0027c0052t0039 | a0013c0017t0024g0125a0013c0017t0024g0126a0027c0052t0039g0014 | 3 | 292 | 0.0103 | 41 | c.*53 others(52): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 3033 | chr7 | TogoVar | ||||||
| RADIL_chr7_4792055_4888716 | 4886301 | T | TATATATA others(34): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03654.hp1 NA20129.hp2 |
a0003a0004a0010 | a0003c0005a0004c0004a0010c0015 | a0003c0005t0052a0004c0004t0006a0010c0015t0056 | a0003c0005t0052g0158a0004c0004t0006g0022a0010c0015t0056g0177 | 3 | 292 | 0.0103 | 41 | c.-27 others(52): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2586 | chr7 | TogoVar | ||||||
| RADIL_chr7_4792055_4888716 | 4886301 | T | TATATATA others(34): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0025 | a0003c0025t0018 | a0003c0025t0018g0003 | 1 | 292 | 0.0034 | 41 | c.-27 others(52): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2586 | chr7 | TogoVar | ||||||
| RALGPS1_chr9_126909782_127228166 | 127188832 | T | TTAAAAAA others(34): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 276 | 0.0036 | 41 | c.911 others(58): Show |
RALGPS1 | ENSG00000136828.19 | transcript | ENST00000259351.10 | protein_coding | 11/18 | chr9 | TogoVar | ||||||
| RALYL_chr8_84178274_84926844 | 84710572 | G | GAAACAAC others(34): Show |
intron_variant | MODIFIER | HG02647.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0039a0001c0001t0007g0017 | 2 | 82 | 0.0244 | 41 | c.257 others(60): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RANBP3_chr19_5911139_5983140 | 5937056 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 322 | 0.0031 | 41 | c.407 others(58): Show |
RANBP3 | ENSG00000031823.14 | transcript | ENST00000340578.10 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 2995619 | C | CTGTGTTT others(34): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02970.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0026a0001c0002t0002a0001c0005t0088 | a0001c0001t0026g0188a0001c0002t0002g0163a0001c0005t0088g0106 | 3 | 218 | 0.0138 | 41 | c.104 others(58): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RARS1_chr5_168481471_168524301 | 168518071 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334a0001c0001t0001g0372 | 2 | 394 | 0.0051 | 41 | c.187 others(56): Show |
RARS1 | ENSG00000113643.9 | transcript | ENST00000231572.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RASA1_chr5_87262883_87396916 | 87338533 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 282 | 0.0036 | 41 | c.101 others(58): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 5/24 | chr5 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114103740 | G | GCCGCCGA others(34): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01433.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0002 | a0001c0001t0001g0046a0001c0001t0001g0049a0001c0001t0001g0064others(1): Show | 4 | 67 | 0.0597 | 41 | c.55+ others(58): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASGEF1C_chr5_180095795_180214211 | 180096258 | T | TCCTTCCT others(34): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0022 | 1 | 370 | 0.0027 | 41 | c.*52 others(52): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4536 | chr5 | TogoVar | ||||||
| RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0243 | 2 | 306 | 0.0065 | 41 | c.-35 others(52): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | ||||||
| RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0202a0001c0001t0005g0295 | 2 | 306 | 0.0065 | 41 | c.-35 others(52): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | ||||||
| RBBP6_chr16_24534566_24577863 | 24575807 | G | GGAGAGGG others(34): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 336 | 0.0030 | 41 | c.*33 others(52): Show |
RBBP6 | ENSG00000122257.20 | transcript | ENST00000319715.10 | protein_coding | 2945 | chr16 | TogoVar | ||||||
| RBBP7_chrX_16839341_16875362 | 16864542 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 316 | 0.0032 | 41 | c.162 others(58): Show |
RBBP7 | ENSG00000102054.18 | transcript | ENST00000380087.7 | protein_coding | 2/11 | chrX | TogoVar | ||||||
| RBBP8_chr18_22928328_23031486 | 23022663 | T | TAAAATAA others(34): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03209.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0209 | 3 | 330 | 0.0091 | 41 | c.259 others(58): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 6806836 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 68 | 0.0147 | 41 | c.-16 others(62): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX3_chr17_79084345_79616051 | 79151626 | C | CGAGGATG others(34): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0020g0030 | 3 | 154 | 0.0195 | 41 | c.-33 others(60): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79151698 | G | GTGAGGAT others(34): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0015others(59): Show | 62 | 154 | 0.4026 | 41 | c.-33 others(60): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79151699 | C | CGAGGATG others(34): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 154 | 0.0065 | 41 | c.-33 others(60): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79611130 | T | TCTCTCTC others(34): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG03017.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0009g0024 | 3 | 154 | 0.0195 | 41 | c.-62 others(50): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 80 | chr17 | TogoVar | ||||||
| RBIS_chr8_85209048_85225374 | 85216162 | G | GCATCTAT others(34): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 368 | 0.0027 | 41 | c.115 others(58): Show |
RBIS | ENSG00000176731.12 | transcript | ENST00000619594.5 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
| RBM20_chr10_110639336_110844468 | 110727419 | A | AAAAAATA others(34): Show |
intron_variant | MODIFIER | HG02886.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0250 | 2 | 268 | 0.0075 | 41 | c.192 others(60): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| RBM23_chr14_22888204_22924149 | 22910151 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0067 | 1 | 362 | 0.0028 | 41 | c.67- others(54): Show |
RBM23 | ENSG00000100461.18 | transcript | ENST00000359890.8 | protein_coding | 2/13 | chr14 | TogoVar | ||||||
| RBM42_chr19_35624036_35642685 | 35638908 | C | CAAAAAAA others(34): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 428 | 0.0047 | 41 | c.*13 others(52): Show |
RBM42 | ENSG00000126254.12 | transcript | ENST00000262633.9 | protein_coding | 1224 | chr19 | TogoVar | ||||||
| RBM47_chr4_40418280_40634864 | 40437089 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 278 | 0.0036 | 41 | c.112 others(58): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
| RBM47_chr4_40418280_40634864 | 40498054 | T | TATATATA others(34): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0076 | 1 | 278 | 0.0036 | 41 | c.-15 others(62): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
| RBMS3_chr3_29276071_30015386 | 29974809 | A | ATTTATAT others(34): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02055.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0048a0001c0001t0083 | a0001c0001t0015g0029a0001c0001t0015g0051a0001c0001t0048g0085others(1): Show | 4 | 116 | 0.0345 | 41 | c.109 others(62): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RBPJL_chr20_45301840_45322824 | 45305805 | C | CTTTTTTT others(34): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 446 | 0.0045 | 41 | c.-11 others(52): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 1034 | chr20 | TogoVar | ||||||
| RC3H1_chr1_173926084_174027357 | 173936913 | C | CAATATAT others(34): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp2 NA18906.hp2 |
a0001 | a0001c0005 | a0001c0005t0061a0001c0005t0062 | a0001c0005t0061g0069a0001c0005t0062g0070 | 2 | 310 | 0.0065 | 41 | c.*17 others(52): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 20/20 | 1807 | chr1 | TogoVar | |||||
| RCBTB2_chr13_48483963_48538080 | 48493325 | T | TCACCCTC others(34): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03540.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0002g0264a0001c0001t0002g0265 | 3 | 320 | 0.0094 | 41 | c.151 others(60): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | ||||||
| RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAATAT others(34): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 390 | 0.0026 | 41 | c.286 others(58): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAAAAT others(34): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0010 | a0001c0001t0003g0362a0001c0001t0004g0274a0001c0001t0004g0298others(1): Show | 4 | 390 | 0.0103 | 41 | c.286 others(58): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| RCHY1_chr4_75474033_75519403 | 75487811 | A | AATATATA others(34): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02071.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015a0001c0001t0003g0067a0001c0001t0003g0070others(10): Show | 14 | 406 | 0.0345 | 41 | c.657 others(58): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
| RCOR1_chr14_102587649_102735561 | 102653983 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 292 | 0.0034 | 41 | c.362 others(60): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RCOR1_chr14_102587649_102735561 | 102653986 | T | TCTTTCTT others(34): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 292 | 0.0034 | 41 | c.362 others(60): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | ||||||
| RELA_chr11_65648601_65667916 | 65664111 | G | GATCTTTA others(34): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 404 | 0.0025 | 41 | c.-12 others(52): Show |
RELA | ENSG00000173039.20 | transcript | ENST00000406246.8 | protein_coding | 1196 | chr11 | TogoVar | ||||||
| RER1_chr1_2386841_2410436 | 2390749 | G | GCTCTTTT others(34): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 NA18939.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0035a0001c0001t0003g0109a0001c0001t0003g0110others(3): Show | 6 | 354 | 0.0170 | 41 | c.-12 others(52): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 1091 | chr1 | TogoVar | ||||||
| REST_chr4_56902900_56940844 | 56905326 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0279 | 1 | 408 | 0.0025 | 41 | c.-28 others(52): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2573 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39329127 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127 | 1 | 276 | 0.0036 | 41 | c.332 others(58): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | ||||||
| RFC5_chr12_118011703_118037234 | 118034584 | T | TCTCTCTC others(34): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 438 | 0.0023 | 41 | c.*33 others(52): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 2351 | chr12 | TogoVar | ||||||
| RFLNA_chr12_124290093_124321024 | 124296157 | T | TCTTTCTT others(34): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03834.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0124a0001c0002t0004g0263a0001c0002t0004g0375 | 3 | 388 | 0.0077 | 41 | c.207 others(56): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar |