| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(484): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0024 | a0024c0162 | a0024c0162t0001 | a0024c0162t0001g0014 | 1 | 68 | 0.0147 | 491 | c.323 others(510): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89634737 | C | CCCTTCCT others(484): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 189 | 0.0053 | 491 | c.105 others(508): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DYNC2I1_chr7_158851558_158951189 | 158916025 | G | GTCGACAT others(484): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 256 | 0.0039 | 491 | c.179 others(510): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| F7_chr13_113100791_113125685 | 113112357 | C | CACTCTCA others(484): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 396 | 0.0025 | 491 | c.226 others(507): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| FAM167A_chr8_11416476_11471753 | 11456222 | A | AGGTGGTT others(484): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0219 | 1 | 2 | 0.5000 | 491 | c.-39 others(512): Show |
FAM167A | ENSG00000154319.16 | transcript | ENST00000284486.9 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
| FAM167A_chr8_11416476_11471753 | 11456222 | A | AGGTGGTT others(484): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 2 | 0.5000 | 491 | c.-39 others(512): Show |
FAM167A | ENSG00000154319.16 | transcript | ENST00000284486.9 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
| FOXK2_chr17_82514732_82609602 | 82586352 | G | GCAGGGGG others(484): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0058 | 1 | 252 | 0.0040 | 491 | c.157 others(508): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399217 | C | CCACCACC others(484): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 290 | 0.0034 | 491 | c.-25 others(508): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| IGF2R_chr6_159964082_160116504 | 160071295 | C | CGAGGCCC others(484): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0057a0001c0004t0025 | a0001c0002t0057g0188 a0001c0004t0025g0127 |
2 | 216 | 0.0093 | 491 | c.444 others(508): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| KANK1_chr9_499695_751103 | 514245 | T | TCTCTCCC others(484): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0031 | a0006c0031t0002 | a0006c0031t0002g0003 | 1 | 249 | 0.0040 | 491 | c.-84 others(508): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
| KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAA others(484): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 | 1 | 185 | 0.0054 | 491 | c.963 others(510): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KCNK2_chr1_215077737_215242090 | 215209572 | T | TAGATATT others(484): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 251 | 0.0040 | 491 | c.963 others(510): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KCNK2_chr1_215077737_215242090 | 215209590 | T | TATATAAA others(484): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 203 | 0.0049 | 491 | c.963 others(510): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(484): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 162 | 0.0062 | 491 | c.178 others(508): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 857646 | A | ACGGGACG others(484): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 195 | 0.0051 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857646 | A | ACGGGACG others(484): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 195 | 0.0051 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857646 | A | ACGGGACG others(484): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 195 | 0.0051 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(484): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 207 | 0.0048 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(484): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 207 | 0.0048 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(484): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 207 | 0.0048 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(484): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0044 | 1 | 207 | 0.0048 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(484): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19009.hp1 NA19011.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0018 | a0001c0001t0001g0132 a0001c0001t0001g0196 a0001c0001t0001g0201 others(2): Show |
5 | 211 | 0.0237 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(484): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 NA18946.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0213 others(3): Show |
6 | 212 | 0.0283 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(484): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp2 HG02056.hp1 others(4): Show |
a0001a0022 | a0001c0001a0001c0011a0022c0063 | a0001c0001t0001a0001c0011t0001a0022c0063t0001 | a0001c0001t0001g0154 a0001c0001t0001g0188 a0001c0001t0001g0210 others(4): Show |
7 | 213 | 0.0329 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | AGTGGTGT others(484): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0021 | a0021c0064 | a0021c0064t0001 | a0021c0064t0001g0202 | 1 | 82 | 0.0122 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | AGTGGTGT others(484): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 82 | 0.0122 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | AGTGGTGT others(484): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02698.hp1 NA18979.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0155 a0001c0001t0001g0269 a0001c0002t0001g0051 |
3 | 84 | 0.0357 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | AGTGGTGT others(484): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0068 | 1 | 82 | 0.0122 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | AGTGGTGT others(484): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18950.hp2 |
a0001 | a0001c0005a0001c0012 | a0001c0005t0001a0001c0012t0001 | a0001c0005t0001g0047 a0001c0012t0001g0084 |
2 | 83 | 0.0241 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | AGTGGTGT others(484): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01123.hp1 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0176 others(1): Show |
4 | 85 | 0.0471 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | AGTGGTGT others(484): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0012 | a0012c0037 | a0012c0037t0005 | a0012c0037t0005g0278 | 1 | 82 | 0.0122 | 491 | c.153 others(510): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 894220 | T | TGTCCACC others(484): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18612.hp2 |
a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0013 a0003c0015t0001g0014 |
2 | 139 | 0.0144 | 491 | c.664 others(508): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
| MCF2L_chr13_112964214_113104742 | 113011921 | C | CGGTGGAC others(484): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0010 | a0001c0010t0022 | a0001c0010t0022g0015 | 1 | 112 | 0.0089 | 491 | c.80- others(506): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MEX3D_chr19_1549672_1573325 | 1550131 | C | CCCACCCA others(484): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 245 | 0.0041 | 491 | c.*54 others(502): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4540 | chr19 | TogoVar | |||||||
| MEX3D_chr19_1549672_1573325 | 1550131 | C | CCCACCCA others(484): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0125 | 1 | 245 | 0.0041 | 491 | c.*54 others(502): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4540 | chr19 | TogoVar | |||||||
| MYEOV_chr11_69289155_69302287 | 69291987 | C | CACCATCA others(484): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0001 | 1 | 197 | 0.0051 | 491 | c.-27 others(502): Show |
MYEOV | ENSG00000172927.9 | transcript | ENST00000441339.3 | protein_coding | 2167 | chr11 | TogoVar | |||||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(484): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 4 | 0.2500 | 491 | c.160 others(508): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(484): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0024 | 2 | 203 | 0.0099 | 491 | c.48+ others(506): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
| NME4_chr16_392199_405754 | 397716 | G | GGTGAGGG others(484): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0207 | 1 | 261 | 0.0038 | 491 | c.91+ others(504): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132148904 | C | CGCCGCCT others(484): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 283 | 0.0035 | 491 | c.901 others(504): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(484): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 38 | 0.0263 | 491 | c.342 others(510): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCCCTCC others(484): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0146 | 1 | 206 | 0.0049 | 491 | c.433 others(508): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(484): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0183 | 1 | 30 | 0.0333 | 491 | c.433 others(508): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(484): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 122 | 0.0082 | 491 | c.*70 others(502): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CGAAAGAA others(484): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0142 | 1 | 202 | 0.0050 | 491 | c.20- others(506): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
| PERM1_chr1_970198_987093 | 977572 | C | CAACCCCG others(484): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0007 | 1 | 185 | 0.0054 | 491 | c.215 others(508): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(484): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0200 | 1 | 335 | 0.0030 | 491 | c.167 others(506): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
| PLEKHN1_chr1_961482_980865 | 977572 | C | CAACCCCG others(484): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0160 | 1 | 193 | 0.0052 | 491 | c.*29 others(502): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1708 | chr1 | TogoVar | |||||||
| PRPF31_chr19_54110754_54136713 | 54133829 | C | CTCCCTCC others(484): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 73 | 0.0137 | 491 | c.*23 others(502): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
| PYM1_chr12_55896413_55932894 | 55905923 | A | ATATATAT others(484): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 339 | 0.0029 | 491 | c.38- others(506): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar |