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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(799): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02148.hp2 HG02735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0037others(2): Show | a0001c0001t0001g0017 a0001c0001t0004g0025 a0001c0001t0037g0160 others(2): Show |
5 | 23 | 0.2174 | 806 | c.24+ others(823): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAG others(799): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0034 | a0002c0034t0003 | a0002c0034t0003g0133 | 1 | 12 | 0.0833 | 806 | c.-3- others(821): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(799): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0117 | 1 | 133 | 0.0075 | 806 | c.389 others(827): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(799): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0088 | 1 | 119 | 0.0084 | 806 | c.389 others(827): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(799): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0194 | 1 | 2 | 0.5000 | 806 | c.-12 others(825): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167108995 | T | TATAAAAA others(799): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 74 | 0.0135 | 806 | c.190 others(825): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
STAM_chr10_17639151_17721824 | 17670782 | T | TAAGAAAT others(799): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0382 | 1 | 393 | 0.0025 | 806 | c.125 others(825): Show |
STAM | ENSG00000136738.15 | transcript | ENST00000377524.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STAM_chr10_17639151_17721824 | 17670782 | T | TAAGAAAT others(799): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01167.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0045 others(3): Show |
6 | 398 | 0.0151 | 806 | c.125 others(825): Show |
STAM | ENSG00000136738.15 | transcript | ENST00000377524.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STAM_chr10_17639151_17721824 | 17670782 | T | TAAGAAAT others(799): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 3 | 395 | 0.0076 | 806 | c.125 others(825): Show |
STAM | ENSG00000136738.15 | transcript | ENST00000377524.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STAM_chr10_17639151_17721824 | 17670782 | T | TAAGAAAT others(799): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0376 | 1 | 393 | 0.0025 | 806 | c.125 others(825): Show |
STAM | ENSG00000136738.15 | transcript | ENST00000377524.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(799): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 3 | 0.3333 | 806 | c.597 others(823): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(799): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 8 | 0.1250 | 806 | c.424 others(823): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GTTAGGGA others(799): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0154 | 1 | 166 | 0.0060 | 806 | c.*49 others(817): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3694857 | G | GCCCTGCA others(799): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0015a0001c0001t0042others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0213 a0001c0001t0015g0001 others(2): Show |
5 | 152 | 0.0329 | 806 | c.186 others(825): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204098 | G | GATATACT others(799): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0024 | 1 | 169 | 0.0059 | 806 | c.41- others(823): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(799): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00738.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0003a0001c0004t0003 | a0001c0001t0002g0036 a0001c0001t0002g0060 a0001c0001t0002g0073 others(4): Show |
8 | 16 | 0.5000 | 806 | c.4-1 others(819): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1432814 | G | GCGAGACT others(800): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 | 1 | 90 | 0.0111 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432814 | G | GCGAGACT others(800): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0128 | 1 | 90 | 0.0111 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432824 | G | GTCTCTAA others(800): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0038 | a0002c0038t0002 | a0002c0038t0002g0071 | 1 | 172 | 0.0058 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432824 | G | GTCTCTAA others(800): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0016 | a0016c0032 | a0016c0032t0001 | a0016c0032t0001g0152 | 1 | 172 | 0.0058 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432859 | C | CGGCCGAG others(800): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0111 | 1 | 108 | 0.0093 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432859 | C | CGGCCGAG others(800): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0164 | 1 | 108 | 0.0093 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432859 | C | CGGCCGAG others(800): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01257.hp2 HG01496.hp2 others(5): Show |
a0001a0003a0009 | a0001c0008a0003c0002a0009c0020 | a0001c0008t0001a0003c0002t0001a0009c0020t0001 | a0001c0008t0001g0150 a0003c0002t0001g0012 a0003c0002t0001g0028 others(5): Show |
8 | 115 | 0.0696 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432859 | C | CGGCCGAG others(800): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02165.hp1 NA18955.hp1 others(2): Show |
a0004 | a0004c0007a0004c0009 | a0004c0007t0001a0004c0009t0001 | a0004c0007t0001g0026 a0004c0007t0001g0059 a0004c0007t0001g0060 others(2): Show |
5 | 112 | 0.0446 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1432859 | C | CGGCCGAG others(800): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01346.hp2 others(3): Show |
a0002a0004a0011 | a0002c0004a0004c0007a0011c0040 | a0002c0004t0001a0004c0007t0001a0004c0007t0002others(1): Show | a0002c0004t0001g0093 a0004c0007t0001g0135 a0004c0007t0001g0137 others(3): Show |
6 | 113 | 0.0531 | 807 | c.401 others(822): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(800): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 807 | c.*36 others(818): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(800): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0016 | 1 | 8 | 0.1250 | 807 | c.-70 others(816): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420595 | T | TTCCATTA others(800): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0363 | 1 | 179 | 0.0056 | 807 | c.413 others(824): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(800): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18950.hp2 NA18951.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 others(6): Show |
9 | 257 | 0.0350 | 807 | c.165 others(824): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(800): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 249 | 0.0040 | 807 | c.165 others(824): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(800): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01074.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0227 others(35): Show |
38 | 286 | 0.1329 | 807 | c.165 others(824): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(800): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0007 | a0007c0007 | a0007c0007t0005 | a0007c0007t0005g0225 | 1 | 249 | 0.0040 | 807 | c.165 others(824): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505662 | C | CGGGCGGG others(800): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18985.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0261 |
3 | 320 | 0.0094 | 807 | c.165 others(824): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939844 | G | GAAGAAAA others(800): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 249 | 0.0040 | 807 | c.403 others(822): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(800): Show |
intron_variant | MODIFIER | HG02735.hp2 NA18942.hp1 NA18946.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 others(2): Show |
5 | 154 | 0.0325 | 807 | c.223 others(828): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(800): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 150 | 0.0067 | 807 | c.223 others(828): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CTTCCTCC others(800): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0124 | 1 | 68 | 0.0147 | 807 | c.-42 others(818): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1450088 | G | GCTGTGAG others(800): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 15 | 0.0667 | 807 | c.107 others(826): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55446361 | A | ACTCCTCA others(800): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 330 | 0.0030 | 807 | c.783 others(824): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(800): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 270 | 0.0037 | 807 | c.-51 others(818): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(800): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 12 | 0.0833 | 807 | c.617 others(824): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(800): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 12 | 0.0833 | 807 | c.617 others(824): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252881 | T | TCACCACC others(800): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 326 | 0.0031 | 807 | c.666 others(824): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(800): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0216 | 1 | 225 | 0.0044 | 807 | c.804 others(824): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(800): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0224 | 1 | 204 | 0.0049 | 807 | c.-36 others(818): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(800): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0222 a0002c0002t0002g0223 |
3 | 206 | 0.0146 | 807 | c.-36 others(818): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(800): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 2 | 205 | 0.0098 | 807 | c.-36 others(818): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(800): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 4 | 0.2500 | 807 | c.-27 others(818): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(800): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 71 | 0.0141 | 807 | c.683 others(826): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGCG others(800): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 37 | 0.0270 | 807 | c.717 others(824): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |