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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEI4_chr6_77648039_77932045 | 77717202 | CGTGAACA others(8455): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(27): Show |
30 | 360 | 0.0833 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77717373 | AGGTTTTA others(8455): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0004 | 1 | 360 | 0.0028 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77717503 | GGGCTGGG others(8455): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01891.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0238 a0001c0001t0003g0152 a0001c0001t0003g0166 others(18): Show |
21 | 360 | 0.0583 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FGD4_chr12_32394558_32651050 | 32465465 | GGAGACCA others(8411): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0193 | 1 | 232 | 0.0043 | -8418 | c.166 others(19): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39702769 | CTGTAGAC others(8389): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0007 | 1 | 336 | 0.0030 | -8396 | c.63+ others(16): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CREB3L3_chr19_4148631_4178054 | 4155866 | ACTTCCCG others(8353): Show |
A | exon_loss_variant | HIGH | NA18998.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0277 | 1 | 404 | 0.0025 | -8360 | c.156 others(15): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5310909 | AAGCGACT others(8346): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0163 | 1 | 352 | 0.0028 | -8353 | c.163 others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C14orf132_chr14_96034362_96098971 | 96061027 | AATGCCAC others(8327): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 372 | 0.0027 | -8334 | c.27+ others(17): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1394393 | ACCTCCTC others(8315): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -8322 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42635875 | GTGGGCAT others(8282): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0201 | 1 | 210 | 0.0048 | -8289 | c.136 others(18): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGEF4_chr2_130831914_131052253 | 130881495 | AAGAGCGG others(8237): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0120 | 1 | 144 | 0.0069 | -8244 | c.40- others(17): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107692856 | CCTGTTGT others(8236): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 HG02965.hp1 others(3): Show |
a0003a0008 | a0003c0003a0003c0011a0008c0012 | a0003c0003t0008a0003c0003t0057a0003c0011t0009others(1): Show | a0003c0003t0008g0044 a0003c0003t0008g0045 a0003c0003t0008g0118 others(3): Show |
6 | 222 | 0.0270 | -8243 | c.-9- others(16): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156657939 | GGGGAGAG others(8205): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0117 a0001c0001t0006g0038 others(6): Show |
9 | 150 | 0.0600 | -8212 | c.575 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84348731 | CCAACTTT others(8196): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0032 a0001c0001t0004g0016 a0001c0001t0004g0026 others(3): Show |
6 | 82 | 0.0732 | -8203 | c.-24 others(21): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185383280 | GGTTCCAA others(8195): Show |
G | intron_variant | MODIFIER | NA18982.hp2 NA19077.hp1 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0002a0009c0017t0002 | a0001c0001t0002g0029 a0009c0017t0002g0011 |
2 | 278 | 0.0072 | -8202 | c.-86 others(19): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
SPANXA2_chrX_141584708_141595762 | 141585342 | TGGACACT others(8179): Show |
T | transcript_ablation | HIGH | NA18968.hp1 NA18998.hp2 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 2 | 185 | 0.0108 | -8186 | c.-44 others(11): Show |
p.0? | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0000 | a0000c0002a0000c0008a0000c0013others(7): Show | a0000c0002t0003a0000c0008t0003a0000c0013t0003others(7): Show | a0000c0002t0003g0001 a0000c0002t0003g0025 a0000c0002t0003g0028 others(15): Show |
31 | 185 | 0.1676 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
TXLNG_chrX_16781466_16849519 | 16801347 | GGCTAATT others(8151): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 264 | 0.0038 | -8158 | c.102 others(18): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88408208 | AGGCAGTT others(8141): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152 a0002c0002t0001g0153 |
2 | 386 | 0.0052 | -8148 | c.-27 others(21): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GNPTG_chr16_1346931_1369113 | 1356771 | GTCTCCAA others(8137): Show |
G | exon_loss_variant | HIGH | HG02922.hp1 | a0000 | a0000c0007 | a0000c0007t0007 | a0000c0007t0007g0056 | 1 | 378 | 0.0027 | -8144 | c.178 others(14): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(8111): Show |
C | exon_loss_variant | HIGH | HG03540.hp1 NA18944.hp2 NA19056.hp1 others(2): Show |
a0014a0078a0090 | a0014c0023a0078c0068a0090c0046 | a0014c0023t0001a0014c0023t0003a0078c0068t0002others(1): Show | a0014c0023t0001g0107 a0014c0023t0001g0108 a0014c0023t0003g0135 others(2): Show |
5 | 282 | 0.0177 | -8118 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(8111): Show |
T | exon_loss_variant | HIGH | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(13): Show |
a0006a0008a0011others(2): Show | a0006c0012a0008c0009a0008c0028others(3): Show | a0006c0012t0002a0008c0009t0002a0008c0028t0003others(4): Show | a0006c0012t0002g0188 a0006c0012t0002g0189 a0006c0012t0002g0190 others(11): Show |
16 | 282 | 0.0567 | -8118 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(8111): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(18): Show |
a0006a0009a0011others(4): Show | a0006c0010a0009c0011a0009c0102others(6): Show | a0006c0010t0001a0006c0010t0003a0006c0010t0004others(8): Show | a0006c0010t0001g0011 a0006c0010t0001g0140 a0006c0010t0003g0139 others(15): Show |
21 | 282 | 0.0745 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122609025 | GGATTCCC others(8111): Show |
G | exon_loss_variant | HIGH | HG01346.hp1 | a0009 | a0009c0011 | a0009c0011t0003 | a0009c0011t0003g0083 | 1 | 282 | 0.0036 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122609057 | CACCTTTT others(8111): Show |
C | exon_loss_variant | HIGH | NA19060.hp2 NA19081.hp2 |
a0014 | a0014c0030 | a0014c0030t0001 | a0014c0030t0001g0158 a0014c0030t0001g0159 |
2 | 282 | 0.0071 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | chr10 | TogoVar | |||||||
LILRB3_chr19_54211278_54228007 | 54219897 | AAGGGGCT others(8103): Show |
A | exon_loss_variant | HIGH | HG00438.hp1 HG00621.hp2 HG02148.hp1 others(3): Show |
a0007 | a0007c0015 | a0007c0015t0006 | a0007c0015t0006g0018 | 6 | 455 | 0.0132 | -8110 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
MPP7_chr10_28045993_28308064 | 28275654 | GCCTCGGC others(8101): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0280 a0001c0001t0005g0281 |
2 | 300 | 0.0067 | -8108 | c.-13 others(21): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151982534 | GAATGCAG others(8096): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 250 | 0.0040 | -8103 | c.109 others(21): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GOLGA6C_chr15_75253334_75278455 | 75270384 | ATTTATTT others(8064): Show |
A | splice_region_variant | LOW | HG03492.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0119 a0001c0001t0010g0121 |
2 | 200 | 0.0100 | -8071 | c.*18 others(10): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 18/18 | chr15 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1398967 | GCTCCCTC others(8023): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 40 | 0.0250 | -8030 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TRIM64C_chr11_49048714_49064112 | 49056093 | AAGATCTC others(8012): Show |
A | exon_loss_variant | HIGH | HG01891.hp2 HG02896.hp1 HG03098.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0000 | a0006c0006t0000g0013 a0006c0006t0000g0022 a0006c0006t0000g0023 |
4 | 412 | 0.0097 | -8019 | c.-50 others(13): Show |
TRIM64C | ENSG00000214891.9 | transcript | ENST00000617704.1 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
LILRB3_chr19_54211278_54228007 | 54220017 | GACCCCCG others(7983): Show |
G | exon_loss_variant | HIGH | HG02630.hp2 HG02717.hp2 HG02818.hp2 others(1): Show |
a0007 | a0007c0021a0007c0077 | a0007c0021t0014a0007c0077t0006 | a0007c0021t0014g0029 a0007c0077t0006g0148 |
4 | 455 | 0.0088 | -7990 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
WNK1_chr12_747579_916452 | 757634 | GGTTGTCT others(7976): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01069.hp2 others(24): Show |
a0004a0005a0011others(2): Show | a0004c0004a0004c0020a0005c0027others(3): Show | a0004c0004t0003a0004c0004t0022a0004c0020t0003others(4): Show | a0004c0004t0003g0072 a0004c0004t0003g0073 a0004c0004t0003g0074 others(24): Show |
27 | 284 | 0.0951 | -7983 | c.759 others(18): Show |
WNK1 | ENSG00000060237.19 | transcript | ENST00000315939.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LILRB3_chr19_54211278_54228007 | 54220028 | CTCACCAG others(7972): Show |
C | exon_loss_variant | HIGH | HG02257.hp1 HG02976.hp2 |
a0007 | a0007c0029 | a0007c0029t0011 | a0007c0029t0011g0151 a0007c0029t0011g0152 |
2 | 455 | 0.0044 | -7979 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152593215 | CAAGAATC others(7970): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0058 | a0002c0058t0005 | a0002c0058t0005g0088 | 1 | 174 | 0.0058 | -7977 | c.67+ others(17): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174642841 | GTGGTGCA others(7958): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0222 | 1 | 272 | 0.0037 | -7965 | c.182 others(20): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192587087 | AATTAAAT others(7931): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 90 | 0.0111 | -7938 | c.13+ others(19): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
WHRN_chr9_114397080_114510473 | 114443798 | ACTGCTGA others(7906): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 330 | 0.0030 | -7913 | c.963 others(19): Show |
WHRN | ENSG00000095397.17 | transcript | ENST00000362057.4 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
TMEM65_chr8_124301189_124377701 | 124357035 | TCCACCCT others(7884): Show |
T | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0311 | 1 | 348 | 0.0029 | -7891 | c.304 others(18): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
NR1H4_chr12_100468866_100569414 | 100542824 | GGTAGATT others(7880): Show |
G | intron_variant | MODIFIER | HG01257.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0159 |
2 | 308 | 0.0065 | -7887 | c.107 others(19): Show |
NR1H4 | ENSG00000012504.15 | transcript | ENST00000392986.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114283553 | CTCAGTTA others(7870): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0086 | 1 | 206 | 0.0049 | -7877 | c.-33 others(21): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
LILRB3_chr19_54211278_54228007 | 54220136 | AGAGGCCT others(7864): Show |
A | exon_loss_variant | HIGH | HG02155.hp2 | a0026 | a0026c0078 | a0026c0078t0011 | a0026c0078t0011g0154 | 1 | 455 | 0.0022 | -7871 | c.-50 others(13): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154600191 | AATCTCAG others(7845): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG01952.hp1 others(12): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0011others(11): Show | a0001c0003t0007a0001c0006t0002a0001c0011t0003others(12): Show | a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0011t0003g0012 others(12): Show |
15 | 38 | 0.3947 | -7852 | c.627 others(19): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197733560 | TATACTAC others(7843): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 328 | 0.0031 | -7850 | c.828 others(17): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 10/10 | chr2 | TogoVar | |||||||
KRTAP4-16_chr17_41096502_41107209 | 41099365 | AAAATGTA others(7837): Show |
A | transcript_ablation | HIGH | NA20300.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 423 | 0.0024 | -7844 | c.-50 others(11): Show |
p.0? | KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21367471 | CTAACTGG others(7806): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02451.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0056 others(15): Show |
18 | 80 | 0.2250 | -7813 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213139099 | TGATTAGT others(7771): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 330 | 0.0030 | -7778 | c.835 others(18): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT7_chr1_6259272_6398767 | 6378109 | ACAAGGCC others(7719): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 a0001c0001t0003g0180 |
2 | 240 | 0.0083 | -7726 | c.143 others(18): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CELA3B_chr1_21972022_21994354 | 21986630 | AGGAAGCC others(7717): Show |
A | exon_loss_variant | HIGH | HG01243.hp1 HG02257.hp2 HG03098.hp1 others(2): Show |
a0000 | a0000c0005 | a0000c0005t0002 | a0000c0005t0002g0046 a0000c0005t0002g0167 a0000c0005t0002g0168 others(1): Show |
5 | 444 | 0.0113 | -7724 | c.743 others(9): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | 761/906 | chr1 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40477199 | AAATAGCC others(7716): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0223 | 1 | 256 | 0.0039 | -7723 | c.242 others(19): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar |