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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(1116): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 | 1 | 337 | 0.0030 | 1123 | c.61+ others(1138): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1116): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp1 NA18956.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0026a0001c0004t0026 | a0001c0001t0026g0247 a0001c0004t0026g0103 |
2 | 350 | 0.0057 | 1123 | c.*23 others(1134): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344714 | G | GGTGTGTG others(1116): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 268 | 0.0037 | 1123 | c.62+ others(1136): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1116): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0108 | 1 | 242 | 0.0041 | 1123 | c.927 others(1140): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1116): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 391 | 0.0026 | 1123 | c.*36 others(1134): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(1116): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 391 | 0.0026 | 1123 | c.*36 others(1134): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1116): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0027 | 1 | 116 | 0.0086 | 1123 | c.-52 others(1144): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1116): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 NA18964.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 a0001c0003t0001g0057 |
2 | 374 | 0.0054 | 1123 | c.*14 others(1134): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1116): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18975.hp2 |
a0001a0003 | a0001c0011a0003c0013 | a0001c0011t0001a0003c0013t0001 | a0001c0011t0001g0079 a0003c0013t0001g0114 |
2 | 374 | 0.0054 | 1123 | c.*14 others(1134): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1116): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 374 | 0.0027 | 1123 | c.*14 others(1134): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1116): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 374 | 0.0027 | 1123 | c.*14 others(1134): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241343 | C | CCACACCC others(1116): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0038 | 1 | 183 | 0.0055 | 1123 | c.107 others(1142): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1116): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0228 a0001c0001t0003g0116 |
2 | 370 | 0.0054 | 1123 | c.572 others(1138): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1116): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0125 | 1 | 370 | 0.0027 | 1123 | c.572 others(1138): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294675 | T | TACATCTG others(1116): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 388 | 0.0026 | 1123 | c.105 others(1140): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1116): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0072a0001c0001t0150 | a0001c0001t0072g0124 a0001c0001t0150g0046 |
2 | 276 | 0.0073 | 1123 | c.*65 others(1134): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1116): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 312 | 0.0032 | 1123 | c.-41 others(1138): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(1116): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0017 | a0017c0038 | a0017c0038t0001 | a0017c0038t0001g0071 | 1 | 88 | 0.0114 | 1123 | c.507 others(1142): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LBP_chr20_38341482_38382013 | 38356155 | A | ACCACACC others(1116): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03654.hp1 |
a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0067 a0012c0016t0001g0068 |
2 | 394 | 0.0051 | 1123 | c.588 others(1138): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664507 | T | TCCTCTCC others(1116): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0070 | 1 | 326 | 0.0031 | 1123 | c.433 others(1140): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841603 | C | CGACCACG others(1116): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0159 | 1 | 242 | 0.0041 | 1123 | c.361 others(1142): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1116): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0149 | 1 | 322 | 0.0031 | 1123 | c.*48 others(1134): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACGCT others(1116): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02572.hp1 NA18954.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0252 others(2): Show |
5 | 338 | 0.0148 | 1123 | c.143 others(1140): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089178 | G | GAGCAAGT others(1116): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0129 | 1 | 304 | 0.0033 | 1123 | c.347 others(1138): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCAGGAC others(1116): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0009 | 1 | 445 | 0.0023 | 1123 | c.-25 others(1134): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(1116): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG01978.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0020 others(5): Show |
11 | 445 | 0.0247 | 1123 | c.-25 others(1134): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741764 | A | AGCAGGAC others(1116): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02965.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0090 a0002c0002t0001g0092 |
6 | 445 | 0.0135 | 1123 | c.-11 others(1134): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1106 | chr17 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1116): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19012.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0158 a0003c0006t0001g0162 |
2 | 228 | 0.0088 | 1123 | c.127 others(1140): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCAGGAC others(1116): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0002 | 1 | 431 | 0.0023 | 1123 | c.*26 others(1134): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(1116): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG01978.hp1 HG02055.hp2 others(6): Show |
a0001a0003a0035 | a0001c0013a0003c0004a0035c0080 | a0001c0013t0003a0003c0004t0003a0035c0080t0003 | a0001c0013t0003g0002 a0003c0004t0003g0002 a0003c0004t0003g0031 others(3): Show |
9 | 431 | 0.0209 | 1123 | c.*26 others(1134): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741764 | A | AGCAGGAC others(1116): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
a0001a0011 | a0001c0013a0011c0068 | a0001c0013t0003a0011c0068t0003 | a0001c0013t0003g0002 a0011c0068t0003g0002 |
3 | 431 | 0.0070 | 1123 | c.*40 others(1134): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 3180 | chr17 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22243731 | A | ATTTTTGA others(1117): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02818.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0281 a0005c0007t0001g0282 a0005c0007t0001g0283 others(1): Show |
4 | 364 | 0.0110 | 1124 | c.878 others(1141): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22243731 | A | ATTTTTGA others(1117): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18954.hp2 NA18994.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0248 |
3 | 364 | 0.0082 | 1124 | c.878 others(1141): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22243731 | A | ATTTTTGA others(1117): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00642.hp2 others(75): Show |
a0002a0004a0009 | a0002c0003a0002c0014a0002c0017others(2): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0004others(19): Show | a0002c0003t0001g0009 a0002c0003t0001g0152 a0002c0003t0001g0153 others(73): Show |
78 | 364 | 0.2143 | 1124 | c.878 others(1141): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22243731 | A | ATTTTTGA others(1117): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03516.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0010 a0001c0001t0016g0207 |
3 | 364 | 0.0082 | 1124 | c.878 others(1141): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22243731 | A | ATTTTTGA others(1117): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01069.hp1 others(33): Show |
a0001a0013 | a0001c0001a0001c0004a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0273 others(30): Show |
36 | 364 | 0.0989 | 1124 | c.878 others(1141): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22243731 | A | ATTTTTGA others(1117): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp2 others(47): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0101 others(45): Show |
50 | 364 | 0.1374 | 1124 | c.878 others(1141): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1117): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 242 | 0.0041 | 1124 | c.927 others(1141): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(1117): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 391 | 0.0026 | 1124 | c.*36 others(1135): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1117): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18939.hp1 NA18955.hp1 others(12): Show |
a0002a0009 | a0002c0003a0009c0013 | a0002c0003t0006a0002c0003t0008a0002c0003t0016others(2): Show | a0002c0003t0006g0010 a0002c0003t0006g0070 a0002c0003t0006g0071 others(9): Show |
15 | 376 | 0.0399 | 1124 | c.63+ others(1137): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1117): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02027.hp2 NA18943.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0008a0002c0003t0016others(1): Show | a0002c0003t0006g0017 a0002c0003t0006g0048 a0002c0003t0006g0052 others(5): Show |
9 | 376 | 0.0239 | 1124 | c.63+ others(1137): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1117): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0054 | a0002c0003t0054g0081 | 1 | 376 | 0.0027 | 1124 | c.63+ others(1137): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(1117): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 288 | 0.0035 | 1124 | c.303 others(1143): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1117): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0019 | a0001c0019t0008 | a0001c0019t0008g0109 | 1 | 284 | 0.0035 | 1124 | c.411 others(1141): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(1117): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0142 | 1 | 168 | 0.0060 | 1124 | c.-26 others(1133): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1117): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0183 | 1 | 364 | 0.0028 | 1124 | c.445 others(1139): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1117): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0156 | a0156c0053 | a0156c0053t0001 | a0156c0053t0001g0070 | 1 | 252 | 0.0040 | 1124 | c.118 others(1143): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1117): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 374 | 0.0027 | 1124 | c.*14 others(1135): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706323 | T | TAGATAGA others(1117): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0034 | a0034c0072 | a0034c0072t0002 | a0034c0072t0002g0229 | 1 | 292 | 0.0034 | 1124 | c.228 others(1141): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1117): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0015 | a0015c0027 | a0015c0027t0002 | a0015c0027t0002g0244 | 1 | 292 | 0.0034 | 1124 | c.228 others(1141): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar |