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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTU2_chr16_88701503_88720396 | 88712912 | C | CCCCGAGA others(2217): Show |
intron_variant | MODIFIER | HG03710.hp1 NA20752.hp1 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0041 | 2 | 410 | 0.0049 | 2224 | c.737 others(2237): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HTN3_chr4_70023459_70041538 | 70029284 | T | TAAAAAGA others(2217): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 407 | 0.0025 | 2224 | c.-14 others(2239): Show |
HTN3 | ENSG00000205649.9 | transcript | ENST00000673563.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712912 | C | CCCCGAGA others(2217): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 NA20752.hp2 |
a0032 | a0032c0150a0032c0151 | a0032c0150t0001a0032c0151t0001 | a0032c0150t0001g0154 a0032c0151t0001g0156 |
2 | 276 | 0.0072 | 2224 | c.*26 others(2235): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2425 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2217): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0037 | a0037c0055 | a0037c0055t0002 | a0037c0055t0002g0192 | 1 | 2 | 0.5000 | 2224 | c.801 others(2241): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(2217): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0150 | 1 | 113 | 0.0088 | 2224 | c.*53 others(2235): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2217): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0133 | 1 | 356 | 0.0028 | 2224 | c.341 others(2241): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(2217): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02630.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0143 a0003c0004t0004g0148 |
2 | 22 | 0.0909 | 2224 | c.127 others(2241): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100690 | T | TAATCCAT others(2218): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0036 | a0001c0036t0065 | a0001c0036t0065g0148 | 1 | 197 | 0.0051 | 2225 | c.45+ others(2240): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP4R4_chr14_94169322_94284734 | 94248977 | T | TTGTTACA others(2218): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0131 | 1 | 301 | 0.0033 | 2225 | c.161 others(2244): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466718 | A | AGGTGGTG others(2218): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 126 | 0.0079 | 2225 | c.*33 others(2234): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 209 | chrX | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 977858 | C | CGTTCTGG others(2219): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03710.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0003 | a0001c0003t0001g0025 a0002c0001t0003g0021 |
2 | 16 | 0.1250 | 2226 | c.73+ others(2243): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 977920 | C | CTTTGGTG others(2219): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 38 | 0.0263 | 2226 | c.73+ others(2243): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 978353 | T | TGTGGGGA others(2219): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 29 | 0.0345 | 2226 | c.73+ others(2243): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2219): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0007 | a0007c0030 | a0007c0030t0001 | a0007c0030t0001g0227 | 1 | 260 | 0.0038 | 2226 | c.228 others(2243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2219): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 249 | 0.0040 | 2226 | c.228 others(2243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706353 | G | GATAGATA others(2219): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0208 | 1 | 288 | 0.0035 | 2226 | c.228 others(2243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2219): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0012 | a0012c0102 | a0012c0102t0010 | a0012c0102t0010g0210 | 1 | 335 | 0.0030 | 2226 | c.-50 others(2237): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2219): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0033 | a0033c0080 | a0033c0080t0002 | a0033c0080t0002g0178 | 1 | 318 | 0.0031 | 2226 | c.-50 others(2237): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2219): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 NA19002.hp1 NA19003.hp1 others(1): Show |
a0001a0008a0017 | a0001c0002a0008c0013a0017c0021 | a0001c0002t0003a0008c0013t0003a0017c0021t0001 | a0001c0002t0003g0176 a0008c0013t0003g0175 a0017c0021t0001g0179 others(1): Show |
4 | 321 | 0.0125 | 2226 | c.-50 others(2237): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223101 | G | GATCGCTG others(2219): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 164 | 0.0061 | 2226 | c.719 others(2245): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(2219): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02155.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 a0001c0002t0001g0046 |
2 | 274 | 0.0073 | 2226 | c.157 others(2245): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467337 | G | GGGGAGGG others(2219): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0032 | a0032c0041 | a0032c0041t0015 | a0032c0041t0015g0019 | 1 | 240 | 0.0042 | 2226 | c.*95 others(2235): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 828 | chrX | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2220): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0200 | 1 | 158 | 0.0063 | 2227 | c.126 others(2244): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATAGACA others(2220): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0016 | a0016c0038 | a0016c0038t0005 | a0016c0038t0005g0093 | 1 | 230 | 0.0043 | 2227 | c.228 others(2244): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATAGACA others(2220): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0061 | a0061c0087 | a0061c0087t0017 | a0061c0087t0017g0086 | 1 | 293 | 0.0034 | 2227 | c.-49 others(2238): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355407 | T | TGCGGCCC others(2220): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0064 | 1 | 79 | 0.0127 | 2227 | c.758 others(2242): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
MIGA2_chr9_129031626_129077082 | 129045441 | C | CAAAAAAA others(2220): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 167 | 0.0060 | 2227 | c.308 others(2244): Show |
MIGA2 | ENSG00000148343.19 | transcript | ENST00000684074.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426126 | A | AGTGGTGG others(2221): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0010 | a0002c0010t0016 | a0002c0010t0016g0234 | 1 | 327 | 0.0031 | 2228 | c.179 others(2243): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(2221): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 266 | 0.0038 | 2228 | c.300 others(2245): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7038999 | T | TGACTCTC others(2221): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 91 | 0.0110 | 2228 | c.46- others(2241): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246324972 | A | AGGAGAAG others(2221): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 144 | 0.0069 | 2228 | c.531 others(2245): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(2221): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0149 | 1 | 113 | 0.0088 | 2228 | c.*53 others(2239): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
ARMC9_chr2_231193631_231381848 | 231350967 | T | TTTTTTTT others(2222): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0136 | 1 | 198 | 0.0051 | 2229 | c.199 others(2248): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543733 | T | TGGGGGGA others(2222): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0155 | 1 | 178 | 0.0056 | 2229 | c.153 others(2248): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2222): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 322 | 0.0031 | 2229 | c.*44 others(2240): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72647782 | A | AAACATTG others(2222): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 170 | 0.0059 | 2229 | c.-52 others(2244): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634611 | C | CCCTTCCT others(2223): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 192 | 0.0052 | 2230 | c.105 others(2247): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2223): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0007 | a0007c0081 | a0007c0081t0002 | a0007c0081t0002g0221 | 1 | 260 | 0.0038 | 2230 | c.228 others(2247): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2223): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 | 1 | 249 | 0.0040 | 2230 | c.228 others(2247): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2223): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0214 | 1 | 249 | 0.0040 | 2230 | c.228 others(2247): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2223): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0049 | a0002c0049t0002 | a0002c0049t0002g0172 | 1 | 249 | 0.0040 | 2230 | c.228 others(2247): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2223): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0173 | 1 | 249 | 0.0040 | 2230 | c.228 others(2247): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2223): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0012 | a0012c0103 | a0012c0103t0006 | a0012c0103t0006g0205 | 1 | 335 | 0.0030 | 2230 | c.-50 others(2241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2223): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0182 | 1 | 318 | 0.0031 | 2230 | c.-50 others(2241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2223): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0010 | a0006c0010t0009 | a0006c0010t0009g0240 | 1 | 318 | 0.0031 | 2230 | c.-50 others(2241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2223): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0040 | a0040c0054 | a0040c0054t0001 | a0040c0054t0001g0270 | 1 | 318 | 0.0031 | 2230 | c.-50 others(2241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2223): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0014 | a0004c0014t0006 | a0004c0014t0006g0271 | 1 | 318 | 0.0031 | 2230 | c.-50 others(2241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2223): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0253 | 1 | 318 | 0.0031 | 2230 | c.-50 others(2241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706367 | T | TACATAGA others(2223): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0172 | 1 | 315 | 0.0032 | 2230 | c.-50 others(2241): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4833 | chr4 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162672 | C | CCCCAGGT others(2223): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 359 | 0.0056 | 2230 | c.418 others(2247): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar |