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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
METTL25B_chr1_156723469_156741960 | 156735544 | A | AAAAAAAA others(400): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0106 |
5 | 384 | 0.0130 | 407 | c.112 others(424): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCCTCC others(400): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 8 | 0.1250 | 407 | c.115 others(424): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(400): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 8 | 0.1250 | 407 | c.115 others(424): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(400): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0159 | 1 | 8 | 0.1250 | 407 | c.115 others(424): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(400): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0029 | a0002c0029t0001 | a0002c0029t0001g0149 | 1 | 8 | 0.1250 | 407 | c.115 others(424): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(400): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0248 | 1 | 8 | 0.1250 | 407 | c.115 others(424): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925244 | T | TCCCCTCC others(400): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0134 | 1 | 273 | 0.0037 | 407 | c.115 others(424): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82247 | G | GCTCCCCG others(400): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 135 | 0.0074 | 407 | c.301 others(422): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735542 | A | AAAAAAAA others(400): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 359 | 0.0028 | 407 | c.*18 others(418): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1760 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735544 | A | AAAAAAAA others(400): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 4 | 359 | 0.0111 | 407 | c.*18 others(418): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1758 | chr1 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767748 | G | GGGGGCGC others(400): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0012 | 2 | 321 | 0.0062 | 407 | c.159 others(424): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667983 | T | TCCTTACC others(400): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 257 | 0.0039 | 407 | c.148 others(426): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(400): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0369 | 1 | 167 | 0.0060 | 407 | c.147 others(426): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668342 | A | AACTGGGT others(400): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 292 | 0.0034 | 407 | c.147 others(426): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCR1_chr19_54901148_54918073 | 54916317 | C | CTTTTTTT others(400): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 NA18998.hp2 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0007 a0003c0004t0006g0042 |
2 | 147 | 0.0136 | 407 | c.*34 others(418): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3245 | chr19 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCG others(400): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 114 | 0.0088 | 407 | c.*44 others(418): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(400): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 30 | 0.0333 | 407 | c.433 others(424): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(400): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 30 | 0.0333 | 407 | c.433 others(424): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 892003 | G | GCAACAGG others(400): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0073 | 1 | 229 | 0.0044 | 407 | c.361 others(426): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCC others(400): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0151 | 1 | 13 | 0.0769 | 407 | c.242 others(424): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCC others(400): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0092 a0001c0001t0002g0001 a0001c0001t0002g0082 others(23): Show |
27 | 39 | 0.6923 | 407 | c.242 others(424): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCC others(400): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0159 | 1 | 13 | 0.0769 | 407 | c.242 others(424): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCC others(400): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 13 | 0.0769 | 407 | c.242 others(424): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCG others(400): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 13 | 0.0769 | 407 | c.242 others(424): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OTOF_chr2_26452203_26483124 | 26476536 | C | CCCTTCCC others(400): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 314 | 0.0032 | 407 | c.436 others(422): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
OTOF_chr2_26452203_26563756 | 26476536 | C | CCCTTCCC others(400): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0004 | a0004c0024 | a0004c0024t0001 | a0004c0024t0001g0062 | 1 | 269 | 0.0037 | 407 | c.267 others(424): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 22/46 | chr2 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746666 | C | CACACGGT others(400): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0171 |
2 | 185 | 0.0108 | 407 | c.-16 others(426): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909791 | C | CCCCCCCC others(400): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0284 | 1 | 250 | 0.0040 | 407 | c.471 others(422): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(400): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 10 | 0.1000 | 407 | c.305 others(428): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42690032 | C | CAGACGCG others(400): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 321 | 0.0031 | 407 | c.218 others(424): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31906170 | T | TGCCACCA others(400): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(73): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0083 others(73): Show |
76 | 165 | 0.4606 | 407 | c.477 others(426): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977224 | C | CAACCCCG others(400): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0076 | 1 | 282 | 0.0035 | 407 | c.215 others(424): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977572 | C | CCAACCCC others(400): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 185 | 0.0054 | 407 | c.215 others(424): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571084 | T | TGTCTGGC others(400): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0054 | 1 | 385 | 0.0026 | 407 | c.-10 others(422): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(400): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 113 | 0.0088 | 407 | c.-27 others(416): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(400): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 113 | 0.0088 | 407 | c.-27 others(416): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131939071 | T | TACGGCAG others(400): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 321 | 0.0031 | 407 | c.199 others(422): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106486 | A | ATGCGTGT others(400): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 284 | 0.0035 | 407 | c.335 others(426): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(400): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 73 | 0.0137 | 407 | c.*23 others(418): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(400): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0140 | 1 | 199 | 0.0050 | 407 | c.-46 others(418): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60548537 | G | GGACGGGG others(400): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 |
3 | 331 | 0.0091 | 407 | c.47- others(424): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114044256 | C | CCCCCGCC others(400): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 66 | 0.0152 | 407 | c.278 others(424): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(400): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 30 | 0.0333 | 407 | c.*36 others(418): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341470 | C | CGGGGGGA others(400): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0223 | 1 | 304 | 0.0033 | 407 | c.188 others(426): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 234298 | T | TCCCCGAG others(400): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0022 | 1 | 62 | 0.0161 | 407 | c.613 others(426): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971088 | A | AGCTGAGG others(400): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0092 | 1 | 253 | 0.0040 | 407 | c.157 others(426): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(400): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 39 | 0.0256 | 407 | c.115 others(424): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109048 | A | AAAAATAT others(400): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 134 | 0.0075 | 407 | c.190 others(426): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45587038 | T | TATTTTAA others(400): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 269 | 0.0037 | 407 | c.649 others(424): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642132 | G | GGGGGGGG others(400): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0026 | 1 | 406 | 0.0025 | 407 | c.*65 others(418): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4482 | chr20 | TogoVar |