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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OSGIN1_chr16_83948240_83971332 | 83950857 | A | ACACACGT others(1079): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 350 | 0.0029 | 1086 | c.-25 others(1097): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2382 | chr16 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325239 | T | TGAGTGAG others(1079): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 398 | 0.0025 | 1086 | c.194 others(1103): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1079): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 330 | 0.0030 | 1086 | c.-50 others(1097): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATAG others(1079): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0154 | 1 | 156 | 0.0064 | 1086 | c.176 others(1103): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATAG others(1079): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0131 | 1 | 156 | 0.0064 | 1086 | c.176 others(1103): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273733 | C | CCACACAT others(1079): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 392 | 0.0026 | 1086 | c.228 others(1105): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACCG others(1079): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 392 | 0.0026 | 1086 | c.228 others(1105): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(1079): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0167 | 1 | 314 | 0.0032 | 1086 | c.189 others(1103): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM242_chr6_157284025_157328519 | 157312448 | C | CTCATCAT others(1079): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(1): Show | 4 | 344 | 0.0116 | 1086 | c.327 others(1103): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744303 | T | TAAAAAAC others(1079): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 372 | 0.0027 | 1086 | c.749 others(1101): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744303 | T | TAAAAACT others(1079): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0062 | 1 | 372 | 0.0027 | 1086 | c.749 others(1101): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1079): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00741.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0255a0001c0001t0003g0124a0001c0001t0006g0008others(13): Show | 19 | 372 | 0.0511 | 1086 | c.749 others(1101): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1079): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 388 | 0.0026 | 1086 | c.-23 others(1103): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3437337 | C | CCACCCCT others(1079): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0066 | 1 | 344 | 0.0029 | 1086 | c.141 others(1105): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1079): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 360 | 0.0028 | 1086 | c.*24 others(1097): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1079): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0322a0001c0002t0002g0323 | 2 | 394 | 0.0051 | 1086 | c.129 others(1103): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1079): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 167 | 0.0060 | 1086 | c.*53 others(1097): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
ZNF675_chr19_23647801_23692212 | 23658855 | A | ATATAGAT others(1079): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0267 | 1 | 376 | 0.0027 | 1086 | c.226 others(1103): Show |
ZNF675 | ENSG00000197372.10 | transcript | ENST00000359788.9 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(1080): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0005 | a0005c0015 | a0005c0015t0004 | a0005c0015t0004g0310 | 1 | 360 | 0.0028 | 1087 | c.170 others(1108): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TGCCCCGC others(1080): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0007 | a0007c0009 | a0007c0009t0111 | a0007c0009t0111g0211 | 1 | 262 | 0.0038 | 1087 | c.106 others(1106): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1080): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0237 | 1 | 242 | 0.0041 | 1087 | c.927 others(1104): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1439671 | A | ACCCCGTC others(1080): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0127 | 1 | 185 | 0.0054 | 1087 | c.225 others(1103): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 2/12 | chrX | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1080): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 376 | 0.0027 | 1087 | c.63+ others(1100): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1080): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0052 | a0052c0124 | a0052c0124t0001 | a0052c0124t0001g0211 | 1 | 252 | 0.0040 | 1087 | c.118 others(1106): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1080): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0111 | a0001c0111t0001 | a0001c0111t0001g0069 | 1 | 252 | 0.0040 | 1087 | c.118 others(1106): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(1080): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 384 | 0.0026 | 1087 | c.215 others(1104): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(1080): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 384 | 0.0026 | 1087 | c.215 others(1104): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ETHE1_chr19_43501719_43532201 | 43517377 | C | CACCTGTA others(1080): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 408 | 0.0025 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 408 | 0.0025 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0146 | 2 | 408 | 0.0049 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0148a0001c0001t0001g0149 | 3 | 408 | 0.0074 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 408 | 0.0049 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(93): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(67): Show | 96 | 408 | 0.2353 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1080): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0267a0002c0003t0001g0306 | 2 | 408 | 0.0049 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03669.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220a0001c0001t0001g0222a0001c0001t0001g0225 | 3 | 408 | 0.0074 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 408 | 0.0025 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(173): Show |
a0000a0001 | a0000c0004a0001c0001 | a0000c0004t0003a0001c0001t0001 | a0000c0004t0003g0235a0001c0001t0001g0003a0001c0001t0001g0004others(126): Show | 176 | 408 | 0.4314 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241a0001c0001t0001g0242 | 2 | 408 | 0.0049 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 408 | 0.0025 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 408 | 0.0025 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01069.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0030others(22): Show | 40 | 408 | 0.0980 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1080): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0175a0001c0001t0001g0179others(1): Show | 6 | 408 | 0.0147 | 1087 | c.376 others(1104): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1080): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0169 | 1 | 282 | 0.0036 | 1087 | c.258 others(1104): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1080): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0011 | a0003c0011t0004 | a0003c0011t0004g0198 | 1 | 236 | 0.0042 | 1087 | c.193 others(1106): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1080): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 236 | 0.0042 | 1087 | c.193 others(1106): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1080): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0236 | 1 | 236 | 0.0042 | 1087 | c.193 others(1106): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1080): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 |
a0006a0008 | a0006c0027a0008c0092 | a0006c0027t0002a0008c0092t0001 | a0006c0027t0002g0079a0008c0092t0001g0078 | 2 | 228 | 0.0088 | 1087 | c.252 others(1106): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1080): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02109.hp2 others(5): Show |
a0006a0008a0009others(3): Show | a0006c0062a0008c0016a0009c0018others(4): Show | a0006c0062t0001a0008c0016t0001a0009c0018t0002others(4): Show | a0006c0062t0001g0228a0008c0016t0001g0012a0009c0018t0002g0011others(5): Show | 8 | 228 | 0.0351 | 1087 | c.252 others(1106): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1080): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0070 | a0070c0100 | a0070c0100t0001 | a0070c0100t0001g0001 | 1 | 228 | 0.0044 | 1087 | c.252 others(1106): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1080): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0018 | 1 | 326 | 0.0031 | 1087 | c.433 others(1104): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar |