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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTG2_chr2_945849_1372613 | 1223101 | G | GATCGCTG others(2149): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 164 | 0.0061 | 2156 | c.719 others(2175): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTGGG others(2149): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0054 | 1 | 68 | 0.0147 | 2156 | c.218 others(2173): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(2150): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 241 | 0.0041 | 2157 | c.127 others(2174): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2150): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 19 | 0.0526 | 2157 | c.371 others(2176): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2150): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0021 | 1 | 69 | 0.0145 | 2157 | c.*52 others(2168): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(2150): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0054 | 1 | 83 | 0.0120 | 2157 | c.724 others(2176): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642849 | G | GAGGGACA others(2150): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 a0001c0002t0001g0245 a0001c0002t0001g0268 |
3 | 337 | 0.0089 | 2157 | c.*17 others(2168): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1383 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642849 | G | GAGGGACA others(2150): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03471.hp2 NA18522.hp2 |
a0001a0018 | a0001c0002a0018c0025 | a0001c0002t0001a0018c0025t0001 | a0001c0002t0001g0002 a0001c0002t0001g0027 a0018c0025t0001g0027 |
3 | 405 | 0.0074 | 2157 | c.*22 others(2168): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2144 | chr11 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2150): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 51 | 0.0196 | 2157 | c.183 others(2174): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2150): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20300.hp1 |
a0003 | a0003c0007 | a0003c0007t0020a0003c0007t0104 | a0003c0007t0020g0159 a0003c0007t0104g0165 |
2 | 52 | 0.0385 | 2157 | c.183 others(2174): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0173 | 1 | 8 | 0.1250 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0188 | 1 | 8 | 0.1250 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0144 others(11): Show |
14 | 21 | 0.6667 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0073 others(1): Show |
4 | 11 | 0.3636 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18522.hp1 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0004g0137 others(1): Show |
4 | 11 | 0.3636 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG01123.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0086 |
2 | 9 | 0.2222 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0099 |
2 | 9 | 0.2222 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2150): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 NA18612.hp2 NA18999.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 4 | 11 | 0.3636 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2150): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2150): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG03492.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 4 | 11 | 0.3636 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2150): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2150): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2150): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0233 a0001c0001t0026g0232 |
2 | 20 | 0.1000 | 2157 | c.389 others(2176): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411129 | C | CCGGATCC others(2151): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0025 | 1 | 218 | 0.0046 | 2158 | c.-21 others(2169): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1983 | chr19 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2151): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02970.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0009 | a0001c0001t0005g0173 a0001c0002t0002g0014 a0001c0002t0009g0013 |
3 | 18 | 0.1667 | 2158 | c.164 others(2177): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 212 | 0.0047 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 213 | 0.0094 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 3 | 214 | 0.0140 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
2 | 213 | 0.0094 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 212 | 0.0047 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | |||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 218 | 0.0046 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18953.hp2 NA18957.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0002c0002t0001a0005c0004t0001 | a0001c0001t0001g0220 a0001c0001t0001g0306 a0002c0002t0001g0219 others(1): Show |
4 | 221 | 0.0181 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0250 a0001c0001t0001g0251 |
3 | 220 | 0.0136 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 218 | 0.0046 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 218 | 0.0046 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2151): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0172 | 1 | 8 | 0.1250 | 2158 | c.-56 others(2177): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2151): Show |
intron_variant | MODIFIER | HG01981.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0142 a0001c0001t0023g0117 |
2 | 9 | 0.2222 | 2158 | c.-56 others(2177): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2151): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0098 a0001c0001t0002g0259 a0001c0001t0004g0048 |
3 | 10 | 0.3000 | 2158 | c.-56 others(2177): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2151): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 8 | 0.1250 | 2158 | c.-56 others(2177): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2151): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 8 | 0.1250 | 2158 | c.-20 others(2169): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2151): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2158 | c.-20 others(2169): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741110 | A | AGGGGCCT others(2151): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 343 | 0.0029 | 2158 | c.-18 others(2169): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1760 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741110 | A | AGGGGCCT others(2151): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 NA19090.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0029 |
2 | 344 | 0.0058 | 2158 | c.-18 others(2169): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1760 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741158 | A | AGCCTGAT others(2151): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 NA19079.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0032 |
2 | 440 | 0.0045 | 2158 | c.-17 others(2169): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1712 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741158 | A | AGCCTGAT others(2151): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0023 | 1 | 439 | 0.0023 | 2158 | c.-17 others(2169): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1712 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741110 | A | AGGGGCCT others(2151): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG01978.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 3 | 336 | 0.0089 | 2158 | c.*34 others(2169): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2526 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741158 | A | AGCCTGAT others(2151): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0002 | 1 | 427 | 0.0023 | 2158 | c.*34 others(2169): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2574 | chr17 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(2151): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 100 | 0.0100 | 2158 | c.-10 others(2175): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2152): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0060 | 1 | 30 | 0.0333 | 2159 | c.445 others(2174): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48520617 | G | GCTGGGAT others(2152): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 286 | 0.0035 | 2159 | c.114 others(2174): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | TogoVar |