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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(819): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0022 | 1 | 3 | 0.3333 | 826 | c.159 others(843): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924228 | C | CATACTCC others(819): Show |
intron_variant | MODIFIER | HG02486.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0157 a0001c0002t0002g0158 |
2 | 254 | 0.0079 | 826 | c.58- others(843): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(819): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02922.hp1 |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0025a0001c0002t0007a0005c0007t0002 | a0001c0001t0025g0078 a0001c0002t0007g0115 a0005c0007t0002g0083 |
3 | 121 | 0.0248 | 826 | c.389 others(847): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166416131 | C | CCCACCAT others(819): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01255.hp2 HG01256.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0047others(3): Show | a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0121 others(10): Show |
13 | 16 | 0.8125 | 826 | c.193 others(845): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 19/20 | chr6 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665328 | T | TTTCTTTT others(819): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0065 | a0001c0065t0006 | a0001c0065t0006g0104 | 1 | 193 | 0.0052 | 826 | c.348 others(845): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(819): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0122 | 1 | 2 | 0.5000 | 826 | c.-12 others(845): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(819): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0137 others(32): Show |
35 | 36 | 0.9722 | 826 | c.-12 others(845): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339615 | C | CCCCTACT others(819): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0011 | 1 | 276 | 0.0036 | 826 | c.89- others(839): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SPADH_chr10_122667850_122684494 | 122681692 | G | GTGTGTGA others(819): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 387 | 0.0026 | 826 | c.*26 others(837): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 2199 | chr10 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(819): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 121 | 0.0083 | 826 | c.-78 others(845): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89908689 | C | CCTCCCAG others(819): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 179 | 0.0056 | 826 | c.179 others(845): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273554 | C | CCACACAT others(819): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 240 | 0.0042 | 826 | c.228 others(845): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TEX19_chr17_82354247_82368775 | 82360211 | T | TTTCCCTC others(819): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 373 | 0.0027 | 826 | c.-27 others(843): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(819): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 12 | 0.0833 | 826 | c.*22 others(837): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(819): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp1 HG01258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0276 a0001c0001t0003g0277 others(4): Show |
8 | 44 | 0.1818 | 826 | c.327 others(843): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(819): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0006 | a0006c0021 | a0006c0021t0001 | a0006c0021t0001g0130 | 1 | 241 | 0.0041 | 826 | c.728 others(843): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377604 | T | TCTCCCCT others(819): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 82 | 0.0122 | 826 | c.-25 others(845): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287451 | C | CCCTCCCC others(819): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 234 | 0.0043 | 826 | c.519 others(843): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(819): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18522.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0185 a0001c0001t0001g0323 a0001c0001t0002g0325 |
3 | 37 | 0.0811 | 826 | c.*35 others(845): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(819): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 2 | 0.5000 | 826 | c.*53 others(837): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024900 | A | ACTATGAT others(819): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 72 | 0.0139 | 826 | c.427 others(845): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(819): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 100 | 0.0100 | 826 | c.-10 others(843): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(820): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 82 | 0.0122 | 827 | c.106 others(846): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(820): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 206 | 0.0049 | 827 | c.106 others(846): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(820): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0062 | a0001c0001t0006g0037 a0001c0001t0062g0038 |
2 | 182 | 0.0110 | 827 | c.-37 others(838): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0271 | 1 | 94 | 0.0106 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0133 | 1 | 94 | 0.0106 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0003 | a0002c0003t0022 | a0002c0003t0022g0289 | 1 | 94 | 0.0106 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01169.hp1 others(8): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0008a0002c0003t0016a0002c0003t0023others(2): Show | a0002c0003t0008g0275 a0002c0003t0008g0276 a0002c0003t0008g0277 others(8): Show |
11 | 104 | 0.1058 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03453.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 a0001c0001t0004g0253 a0001c0001t0004g0255 others(1): Show |
4 | 97 | 0.0412 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 94 | 0.0106 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0200 | 1 | 94 | 0.0106 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0177 | 1 | 94 | 0.0106 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02615.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 others(5): Show |
8 | 101 | 0.0792 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02083.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0104 a0001c0001t0003g0108 a0001c0001t0003g0129 |
3 | 96 | 0.0313 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(820): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18949.hp2 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0047 | a0001c0001t0003g0068 a0001c0001t0003g0096 a0001c0001t0003g0097 others(1): Show |
4 | 97 | 0.0412 | 827 | c.207 others(848): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(820): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0008 | 1 | 8 | 0.1250 | 827 | c.-70 others(836): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(820): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0008 | 1 | 8 | 0.1250 | 827 | c.-70 others(836): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(820): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0164 a0001c0001t0004g0174 |
2 | 39 | 0.0513 | 827 | c.248 others(844): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(820): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0233 a0001c0001t0011g0180 |
2 | 39 | 0.0513 | 827 | c.248 others(844): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(820): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0242 | 1 | 2 | 0.5000 | 827 | c.162 others(848): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(820): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0251 | 1 | 2 | 0.5000 | 827 | c.162 others(848): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CCCTCCCT others(820): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 68 | 0.0147 | 827 | c.-42 others(838): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(820): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0027 a0001c0001t0004g0028 a0001c0001t0009g0014 others(1): Show |
4 | 77 | 0.0519 | 827 | c.937 others(842): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485414 | C | CCCCCCCA others(820): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0148 | 1 | 336 | 0.0030 | 827 | c.844 others(844): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCGTGTCA others(820): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 268 | 0.0037 | 827 | c.927 others(842): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(820): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03130.hp2 |
a0001 | a0001c0014 | a0001c0014t0005 | a0001c0014t0005g0007 | 2 | 159 | 0.0126 | 827 | c.126 others(844): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(820): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 12 | 0.0833 | 827 | c.*28 others(838): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(820): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 285 | 0.0035 | 827 | c.666 others(844): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323165 | A | ATATATAT others(820): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 320 | 0.0031 | 827 | c.-18 others(838): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1804 | chr21 | TogoVar |