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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXNA4_chr7_132118340_132581470 | 132179267 | T | TTGCCTGG others(90): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01255.hp2 others(13): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(9): Show | a0001c0001t0003g0071 a0001c0001t0003g0087 a0001c0001t0010g0053 others(13): Show |
16 | 85 | 0.1882 | 97 | c.387 others(114): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 20/31 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988765 | A | AGGCCGGG others(90): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0047 | 1 | 218 | 0.0046 | 97 | c.*22 others(108): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1911 | chr7 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 38993613 | C | CACACACA others(90): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 154 | 0.0065 | 97 | c.105 others(116): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642675 | G | GTATGTAT others(90): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19057.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0006 | a0001c0001t0003g0015 a0001c0001t0005g0023 a0001c0002t0006g0014 others(1): Show |
4 | 167 | 0.0240 | 97 | c.303 others(116): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPP1R3B_chr8_9131255_9155658 | 9154000 | A | ACCTCCCG others(90): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 14 | 0.0714 | 97 | c.-34 others(108): Show |
PPP1R3B | ENSG00000173281.5 | transcript | ENST00000310455.4 | protein_coding | 3343 | chr8 | TogoVar | |||||||
PPP2R2A_chr8_26286508_26377680 | 26287494 | T | TGGGGTGG others(90): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02723.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0294 a0001c0001t0007g0060 a0001c0001t0007g0065 |
3 | 329 | 0.0091 | 97 | c.-43 others(108): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 4013 | chr8 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41855925 | T | TCCCCTCC others(90): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0364 | 1 | 246 | 0.0041 | 97 | c.286 others(114): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3165936 | G | GTGACTCA others(90): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0052 | 1 | 145 | 0.0069 | 97 | c.38- others(114): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3357568 | G | GCAGCCAG others(90): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0013others(4): Show | a0001c0001t0019a0001c0001t0087a0001c0004t0004others(13): Show | a0001c0001t0019g0101 a0001c0001t0087g0062 a0001c0004t0004g0051 others(16): Show |
19 | 208 | 0.0913 | 97 | c.439 others(116): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57470449 | T | TCCCCTCT others(90): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0028 | 1 | 298 | 0.0034 | 97 | c.694 others(116): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184676531 | T | TTCCCTTC others(90): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 308 | 0.0032 | 97 | c.845 others(114): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2121865 | G | GGCTGTAG others(90): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 | 1 | 279 | 0.0036 | 97 | c.335 others(116): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122061 | G | GTAGTTAG others(90): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 220 | 0.0045 | 97 | c.335 others(116): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122488 | G | GTAGTTAG others(90): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 278 | 0.0036 | 97 | c.335 others(116): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122989 | G | GTGGTTAG others(90): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 126 | 0.0079 | 97 | c.335 others(116): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS2_chr7_142765970_142779560 | 142777608 | G | GGTGTTGG others(90): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 368 | 0.0027 | 97 | c.*31 others(108): Show |
PRSS2 | ENSG00000275896.7 | transcript | ENST00000539842.6 | protein_coding | 3049 | chr7 | TogoVar | |||||||
PTPN9_chr15_75458251_75584315 | 75504150 | A | ACAGCCGC others(90): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01952.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0034others(1): Show | a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0004g0063 others(23): Show |
26 | 130 | 0.2000 | 97 | c.968 others(114): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972267 | A | AGGAGAGG others(90): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0278 | 1 | 276 | 0.0036 | 97 | c.150 others(116): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25247993 | T | TCCCGAGG others(90): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 341 | 0.0029 | 97 | c.-18 others(106): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 91 | chr20 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37347196 | T | TATATATA others(90): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0275 | 1 | 399 | 0.0025 | 97 | c.120 others(114): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347196 | T | TATATATA others(90): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0262 | 1 | 399 | 0.0025 | 97 | c.120 others(114): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(90): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0036 | 1 | 12 | 0.0833 | 97 | c.-34 others(108): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGAC others(90): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 209 | 0.0048 | 97 | c.-57 others(106): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGAC others(90): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0114 |
2 | 210 | 0.0095 | 97 | c.-57 others(106): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGAC others(90): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 210 | 0.0095 | 97 | c.-57 others(106): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGAC others(90): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 209 | 0.0048 | 97 | c.-57 others(106): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | |||||||
RAI1_chr17_17676458_17816453 | 17816189 | G | GCCCCCCA others(90): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0187 | 1 | 238 | 0.0042 | 97 | c.*62 others(108): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4737 | chr17 | TogoVar | |||||||
RAI1_chr17_17676458_17816453 | 17816189 | G | GCCCCCCA others(90): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG01981.hp1 HG02738.hp2 |
a0002a0010 | a0002c0002a0010c0035 | a0002c0002t0002a0010c0035t0002 | a0002c0002t0002g0221 a0002c0002t0002g0235 a0010c0035t0002g0136 |
3 | 240 | 0.0125 | 97 | c.*62 others(108): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4737 | chr17 | TogoVar | |||||||
RAI1_chr17_17676458_17816453 | 17816189 | G | GCCCCCCA others(90): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02135.hp1 HG02809.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0013others(1): Show | a0001c0001t0001a0002c0003t0010a0002c0013t0004others(1): Show | a0001c0001t0001g0155 a0002c0003t0010g0232 a0002c0013t0004g0064 others(1): Show |
4 | 241 | 0.0166 | 97 | c.*62 others(108): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4737 | chr17 | TogoVar | |||||||
RAI1_chr17_17676458_17816453 | 17816189 | G | GCCCCCCC others(90): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0097 |
2 | 239 | 0.0084 | 97 | c.*62 others(108): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4737 | chr17 | TogoVar | |||||||
RAP1B_chr12_68605899_68676901 | 68606110 | G | GGGGGGGG others(90): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0245 | 1 | 386 | 0.0026 | 97 | c.-49 others(108): Show |
RAP1B | ENSG00000127314.18 | transcript | ENST00000250559.14 | protein_coding | 4788 | chr12 | TogoVar | |||||||
RAPGEF3_chr12_47729363_47763880 | 47759923 | G | GCATCCTC others(90): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01099.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0003a0003c0003t0003others(4): Show | a0001c0001t0002g0001 a0002c0002t0003g0009 a0003c0003t0003g0004 others(11): Show |
33 | 427 | 0.0773 | 97 | c.-14 others(108): Show |
RAPGEF3 | ENSG00000079337.16 | transcript | ENST00000449771.7 | protein_coding | 1044 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296124 | C | CTTTCTTT others(90): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0262 | 1 | 213 | 0.0047 | 97 | c.207 others(112): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296167 | T | TCTTTCTT others(90): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162 | 1 | 354 | 0.0028 | 97 | c.207 others(112): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341502 | G | GGGCGGAG others(90): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 212 | 0.0047 | 97 | c.188 others(116): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153054069 | T | TATATACG others(90): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0267 | 1 | 332 | 0.0030 | 97 | c.-25 others(116): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153054069 | T | TATATATG others(90): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0317 a0001c0002t0010g0318 |
2 | 333 | 0.0060 | 97 | c.-25 others(116): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483637 | A | ACCCTCAC others(90): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02717.hp2 |
a0002a0011 | a0002c0010a0002c0026a0011c0035 | a0002c0010t0001a0002c0026t0001a0011c0035t0001 | a0002c0010t0001g0027 a0002c0026t0001g0117 a0011c0035t0001g0102 |
3 | 155 | 0.0194 | 97 | c.-3- others(112): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483660 | A | AGAGCCCC others(90): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 169 | 0.0059 | 97 | c.-3- others(112): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIPK2_chr8_89752816_89796064 | 89753685 | T | TTATATAT others(90): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0148 a0001c0001t0005g0149 |
2 | 252 | 0.0079 | 97 | c.-43 others(108): Show |
RIPK2 | ENSG00000104312.8 | transcript | ENST00000220751.5 | protein_coding | 4130 | chr8 | TogoVar | |||||||
RIPK3_chr14_24331025_24344991 | 24337053 | T | TTAGTGCA others(90): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0029 | 1 | 426 | 0.0023 | 97 | c.121 others(109): Show |
RIPK3 | ENSG00000129465.16 | transcript | ENST00000216274.10 | protein_coding | 8/9 | chr14 | TogoVar | |||||||
RNASE10_chr14_20500537_20518884 | 20505261 | G | GCTCCCTC others(90): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0114 | 1 | 29 | 0.0345 | 97 | c.-76 others(106): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 275 | chr14 | TogoVar | |||||||
RNF144A_chr2_6912412_7049179 | 7039252 | G | GATGATGG others(90): Show |
intron_variant | MODIFIER | HG01981.hp2 HG01993.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0003 | a0001c0001t0007g0245 a0002c0003t0003g0201 |
2 | 283 | 0.0071 | 97 | c.748 others(112): Show |
RNF144A | ENSG00000151692.15 | transcript | ENST00000320892.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RNF144A_chr2_6912412_7049179 | 7039252 | G | GATGATGG others(90): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01070.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0044 others(22): Show |
25 | 306 | 0.0817 | 97 | c.748 others(112): Show |
RNF144A | ENSG00000151692.15 | transcript | ENST00000320892.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RNF148_chr7_122696668_122707922 | 122705888 | A | ATATAATA others(90): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 360 | 0.0028 | 97 | c.-31 others(108): Show |
RNF148 | ENSG00000235631.2 | transcript | ENST00000434824.2 | protein_coding | 2967 | chr7 | TogoVar | |||||||
RNF148_chr7_122696668_122707922 | 122705888 | A | ATATAATA others(90): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 361 | 0.0055 | 97 | c.-31 others(108): Show |
RNF148 | ENSG00000235631.2 | transcript | ENST00000434824.2 | protein_coding | 2967 | chr7 | TogoVar | |||||||
RNF175_chr4_153705160_153765024 | 153764966 | C | CTTTTAAA others(90): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 392 | 0.0026 | 97 | c.-51 others(108): Show |
RNF175 | ENSG00000145428.15 | transcript | ENST00000347063.9 | protein_coding | 4943 | chr4 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078259 | G | GCCGGGAG others(90): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 97 | c.-42 others(108): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3954 | chr1 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88948179 | G | GGGGGGGT others(90): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01515.hp1 HG02523.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0156 others(19): Show |
22 | 218 | 0.1009 | 97 | c.65- others(112): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 1/15 | chr6 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10610071 | C | CTTTAGTC others(90): Show |
frameshift_variant others(1): Show |
HIGH | NA18985.hp1 | a0008 | a0008c0140 | a0008c0140t0002 | a0008c0140t0002g0181 | 1 | 306 | 0.0033 | 97 | c.402 others(106): Show |
p.Glu others(6): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 4/4 | 4291/8014 | 4026/7203 | 1342/2400 | chr8 | TogoVar |