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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIRREL1_chr1_157988645_158105262 | 158016432 | TCAAAGGC others(2889): Show |
T | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 288 | 0.0035 | -2896 | c.52+ others(17): Show |
KIRREL1 | ENSG00000183853.18 | transcript | ENST00000359209.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48827270 | ACCAGCCT others(2883): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00741.hp1 others(48): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0003a0004c0004t0005others(6): Show | a0003c0003t0001g0028 a0004c0004t0003g0071 a0004c0004t0003g0073 others(48): Show |
51 | 328 | 0.1555 | -2890 | c.-38 others(10): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 3764 | chr17 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118848917 | GTTTCCAA others(2882): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 others(4): Show |
7 | 348 | 0.0201 | -2889 | c.132 others(19): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
PLPPR5_chr1_98885245_99009861 | 98939287 | TATAGAGG others(2882): Show |
T | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0246 | 1 | 280 | 0.0036 | -2889 | c.621 others(19): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33384465 | TTCCAATG others(2880): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02148.hp2 HG02257.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0025g0087 others(4): Show |
7 | 110 | 0.0636 | -2887 | c.893 others(16): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(2874): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 others(37): Show |
40 | 360 | 0.1111 | -2881 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637311 | GCACAGCC others(2873): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG03834.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0164 a0002c0002t0001g0018 |
2 | 223 | 0.0090 | -2880 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637196 | GTCCATCC others(2872): Show |
G | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 223 | 0.0045 | -2879 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430202 | GTCTTCTG others(2872): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 360 | 0.0028 | -2879 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1404214 | TGCTTACT others(2856): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0010a0002c0001t0003a0002c0001t0011others(2): Show | a0001c0002t0010g0008 a0002c0001t0003g0022 a0002c0001t0011g0001 others(2): Show |
5 | 40 | 0.1250 | -2863 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 210605 | TGAGACAG others(2855): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0258 | 1 | 406 | 0.0025 | -2862 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129810795 | ACAATGTC others(2854): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0025 | 1 | 94 | 0.0106 | -2861 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196320075 | ACCACTGC others(2851): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 330 | 0.0030 | -2858 | c.-47 others(11): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1836 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196320075 | ACCACTGC others(2851): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0129 | 1 | 370 | 0.0027 | -2858 | c.*88 others(10): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 3471 | chr3 | TogoVar | |||||||
PRR33_chr11_1883078_1896895 | 1894042 | TGGCTGGA others(2846): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 308 | 0.0033 | -2853 | c.-63 others(11): Show |
PRR33 | ENSG00000283787.2 | transcript | ENST00000640310.2 | protein_coding | 2148 | chr11 | TogoVar | |||||||
CREBRF_chr5_173051352_173144284 | 173068983 | AATTGCTT others(2841): Show |
A | intron_variant | MODIFIER | HG03491.hp1 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0036 a0001c0002t0005g0039 |
2 | 292 | 0.0069 | -2848 | c.-19 others(20): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRR33_chr11_1883078_1896895 | 1894047 | GGAGTGTG others(2841): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(302): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0009a0001c0012others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(33): Show |
305 | 308 | 0.9903 | -2848 | c.-63 others(11): Show |
PRR33 | ENSG00000283787.2 | transcript | ENST00000640310.2 | protein_coding | 2153 | chr11 | TogoVar | |||||||
S100A11_chr1_152027506_152042004 | 152039157 | CGCCTCCC others(2840): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 362 | 0.0028 | -2847 | c.-50 others(11): Show |
S100A11 | ENSG00000163191.6 | transcript | ENST00000271638.3 | protein_coding | 2154 | chr1 | TogoVar | |||||||
SLC1A1_chr9_4485468_4592469 | 4501099 | GTGTCCAA others(2840): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0344 a0001c0001t0005g0145 a0001c0001t0005g0335 others(5): Show |
8 | 384 | 0.0208 | -2847 | c.91+ others(17): Show |
SLC1A1 | ENSG00000106688.12 | transcript | ENST00000262352.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF30_chr19_34921903_34950168 | 34932578 | TTAATATA others(2840): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA18967.hp1 | a0015 | a0015c0018 | a0015c0018t0003 | a0015c0018t0003g0277 | 1 | 412 | 0.0024 | -2847 | c.160 others(16): Show |
ZNF30 | ENSG00000168661.15 | transcript | ENST00000601142.2 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PRR33_chr11_1883078_1896895 | 1894049 | AGTGTGGG others(2839): Show |
A | upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 308 | 0.0033 | -2846 | c.-63 others(11): Show |
PRR33 | ENSG00000283787.2 | transcript | ENST00000640310.2 | protein_coding | 2155 | chr11 | TogoVar | |||||||
DCPS_chr11_126299060_126355005 | 126314413 | TTACGGGA others(2838): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0103 | 1 | 342 | 0.0029 | -2845 | c.376 others(18): Show |
DCPS | ENSG00000110063.10 | transcript | ENST00000263579.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3568914 | CTGACCTC others(2833): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0027 | 1 | 80 | 0.0125 | -2840 | c.196 others(19): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1088059 | GAAAGTGC others(2833): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0057a0002c0002t0002 | a0001c0001t0057g0156 a0002c0002t0002g0087 a0002c0002t0002g0089 others(2): Show |
5 | 162 | 0.0309 | -2840 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20156313 | TCTGTTAA others(2829): Show |
T | intron_variant | MODIFIER | NA18980.hp1 NA18981.hp2 NA19009.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0005 | 3 | 434 | 0.0069 | -2836 | c.101 others(19): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1343382 | CTTTTCCC others(2829): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0149 | 1 | 190 | 0.0053 | -2836 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA2013_chr1_11914591_11931427 | 11928592 | TGCCTCAG others(2828): Show |
T | upstream_gene_variant | MODIFIER | HG04228.hp1 NA18948.hp2 NA18952.hp1 others(4): Show |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0001a0002c0004t0001 | a0001c0005t0001g0070 a0002c0004t0001g0016 a0002c0004t0001g0071 |
7 | 444 | 0.0158 | -2835 | c.-51 others(11): Show |
KIAA2013 | ENSG00000116685.17 | transcript | ENST00000376572.8 | protein_coding | 2166 | chr1 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(2827): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0059 a0001c0001t0001g0130 a0001c0001t0003g0268 |
3 | 360 | 0.0083 | -2834 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77864098 | GTTGCCCT others(2826): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0057 | a0001c0057t0022 | a0001c0057t0022g0111 | 1 | 331 | 0.0030 | -2833 | c.373 others(17): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 2/31 | chr10 | TogoVar | |||||||
SESN3_chr11_95160513_95236202 | 95207145 | AAGTTTAA others(2826): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0065 | a0001c0001t0030g0248 a0001c0001t0030g0296 a0001c0001t0030g0297 others(1): Show |
4 | 392 | 0.0102 | -2833 | c.79- others(17): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
OR6M1_chr11_123800408_123811349 | 123808260 | CTGGGCTG others(2824): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0006 | a0006c0011 | a0006c0011t0000 | a0006c0011t0000g0000 | 1 | 472 | 0.0021 | -2831 | c.-47 others(11): Show |
OR6M1 | ENSG00000196099.5 | transcript | ENST00000309154.3 | protein_coding | 1912 | chr11 | TogoVar | |||||||
LTBP1_chr2_32941953_33404509 | 32999395 | AGACATGG others(2823): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(44): Show | a0001c0001t0001g0060 a0001c0001t0003g0127 a0001c0001t0003g0129 others(54): Show |
57 | 164 | 0.3476 | -2830 | c.566 others(19): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 2/33 | chr2 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2093115 | GTGAGGAC others(2823): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 286 | 0.0035 | -2830 | c.334 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132232337 | AGACAGCG others(2821): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 NA18952.hp2 others(1): Show |
a0001 | a0001c0011a0001c0013a0001c0034 | a0001c0011t0001a0001c0013t0004a0001c0034t0004 | a0001c0011t0001g0057 a0001c0011t0001g0129 a0001c0013t0004g0124 others(1): Show |
4 | 183 | 0.0219 | -2828 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SBK3_chr19_55535656_55550543 | 55547717 | TTGAACCC others(2819): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 438 | 0.0023 | -2826 | c.-50 others(11): Show |
SBK3 | ENSG00000231274.5 | transcript | ENST00000612221.1 | protein_coding | 2175 | chr19 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070350 | GCCCCCAG others(2819): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0050 | 1 | 118 | 0.0085 | -2826 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
STK17A_chr7_43578108_43632379 | 43589652 | GTCATCCA others(2819): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 392 | 0.0026 | -2826 | c.206 others(17): Show |
STK17A | ENSG00000164543.7 | transcript | ENST00000319357.6 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44600466 | GCCATGTT others(2815): Show |
G | intron_variant | MODIFIER | HG02486.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105 a0001c0001t0002g0042 |
2 | 198 | 0.0101 | -2822 | c.377 others(21): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24832196 | TTTGATTT others(2815): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(317): Show |
320 | 344 | 0.9302 | -2822 | c.415 others(17): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152214266 | CGGAGCCA others(2813): Show |
C | conservative_inframe_deletion | MODERATE | HG01433.hp2 HG01884.hp1 HG02109.hp1 others(5): Show |
a0004a0006a0012 | a0004c0008a0006c0022a0012c0051 | a0004c0008t0004a0006c0022t0004a0012c0051t0004 | a0004c0008t0004g0011 a0004c0008t0004g0175 a0006c0022t0004g0039 others(1): Show |
8 | 418 | 0.0191 | -2820 | c.454 others(9): Show |
p.Ser others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7438/9629 | 4543/8553 | 1515/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215156 | CGGGAAGA others(2813): Show |
C | disruptive_inframe_deletion | MODERATE | NA21309.hp2 | a0001 | a0001c0191 | a0001c0191t0013 | a0001c0191t0013g0191 | 1 | 418 | 0.0024 | -2820 | c.365 others(9): Show |
p.His others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6548/9629 | 3653/8553 | 1218/2850 | chr1 | TogoVar | |||
H4C11_chr6_27819092_27829480 | 27823802 | GTCAGCCA others(2809): Show |
G | transcript_ablation | HIGH | HG02148.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 396 | 0.0025 | -2816 | c.-32 others(10): Show |
p.0? | H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220048133 | GCCTGTAA others(2807): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG02132.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0058 others(2): Show |
5 | 358 | 0.0140 | -2814 | c.-45 others(11): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 1629 | chr1 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 253675 | CGTTACTA others(2807): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023 | 1 | 133 | 0.0075 | -2814 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SLC9B1_chr4_102895928_103024705 | 102901660 | CTTAGTTG others(2805): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 318 | 0.0031 | -2812 | c.133 others(18): Show |
SLC9B1 | ENSG00000164037.17 | transcript | ENST00000296422.12 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3635430 | CGCCCGGC others(2801): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0028 | a0001c0001t0002g0047 a0001c0003t0028g0036 |
2 | 80 | 0.0250 | -2808 | c.159 others(21): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1637297 | TCATGAGG others(2790): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02273.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0002 | a0001c0001t0002g0168 a0001c0001t0005g0165 a0002c0002t0002g0217 |
3 | 223 | 0.0135 | -2797 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201281925 | TTCAAATT others(2785): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(214): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(122): Show |
217 | 386 | 0.5622 | -2792 | c.803 others(15): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCHS2_chr4_154226742_154496799 | 154346511 | AACATGTC others(2785): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 |
a0050a0104 | a0050c0045a0104c0103 | a0050c0045t0001a0104c0103t0018 | a0050c0045t0001g0044 a0104c0103t0018g0135 |
2 | 192 | 0.0104 | -2792 | c.247 others(21): Show |
DCHS2 | ENSG00000197410.14 | transcript | ENST00000357232.10 | protein_coding | 3/19 | chr4 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129545578 | CATGAACA others(2784): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02896.hp2 others(4): Show |
a0001a0004a0006 | a0001c0001a0001c0008a0004c0007others(1): Show | a0001c0001t0001a0001c0008t0002a0001c0008t0004others(2): Show | a0001c0001t0001g0017 a0001c0008t0002g0013 a0001c0008t0004g0011 others(4): Show |
7 | 226 | 0.0310 | -2791 | c.132 others(19): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |