| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CPAMD8_chr19_16887951_17031810 | 17030820 | CACTAGCA others(983): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 NA20129.hp1 |
a0001a0023a0124 | a0001c0013a0023c0075a0124c0186 | a0001c0013t0001a0023c0075t0001a0124c0186t0001 | a0001c0013t0001g0138a0023c0075t0001g0137a0124c0186t0001g0049 | 3 | 278 | 0.0108 | -990 | c.-51 others(11): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 4011 | chr19 | TogoVar | ||||||
| LOC128092252_chr15_50643802_50691717 | 50654207 | AGGCCAAG others(983): Show |
A | intron_variant | MODIFIER | HG01516.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0065a0001c0001t0000g0066a0001c0001t0000g0069 | 3 | 388 | 0.0077 | -990 | c.306 others(17): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 3/3 | chr15 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113067784 | AGCTGGAG others(983): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0032 | a0001c0005t0032g0106 | 1 | 116 | 0.0086 | -990 | c.881 others(17): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45924160 | TGAACACT others(983): Show |
T | intron_variant | MODIFIER | NA18957.hp1 NA18963.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071a0001c0001t0003g0076a0001c0001t0003g0077 | 3 | 292 | 0.0103 | -990 | c.718 others(17): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PIEZO2_chr18_10665247_11154569 | 10813259 | GTGAGCCA others(983): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0074 | a0002c0074t0001 | a0002c0074t0001g0028 | 1 | 158 | 0.0063 | -990 | c.918 others(17): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 7/55 | chr18 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 3000503 | AATCAGCC others(983): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0007 | a0001c0007t0026 | a0001c0007t0026g0161 | 1 | 218 | 0.0046 | -990 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPAIN_chr17_5415182_5437877 | 5435768 | GCCTGTAA others(983): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0005 | a0001c0002t0001g0092a0002c0001t0001g0024a0002c0001t0001g0052others(5): Show | 9 | 400 | 0.0225 | -990 | c.*31 others(11): Show |
RPAIN | ENSG00000129197.15 | transcript | ENST00000381209.8 | protein_coding | 2892 | chr17 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 897348 | TTCAGTGT others(983): Show |
T | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 402 | 0.0025 | -990 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRPM7_chr15_50552158_50691797 | 50654207 | AGGCCAAG others(983): Show |
A | intron_variant | MODIFIER | HG01516.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0047a0001c0002t0023g0048a0001c0002t0023g0050 | 3 | 352 | 0.0085 | -990 | c.122 others(17): Show |
TRPM7 | ENSG00000092439.16 | transcript | ENST00000646667.1 | protein_coding | 3/38 | chr15 | TogoVar | ||||||
| COQ8A_chr1_226935294_226992544 | 226955535 | TCTCCCTG others(982): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02280.hp1 others(15): Show |
a0002 | a0002c0004a0002c0007a0002c0012others(1): Show | a0002c0004t0003a0002c0007t0003a0002c0012t0003others(1): Show | a0002c0004t0003g0015a0002c0004t0003g0135a0002c0004t0003g0165others(13): Show | 18 | 412 | 0.0437 | -989 | c.-9- others(15): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GOLGA3_chr12_132763914_132833869 | 132817067 | ACTCTAAC others(982): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0238 | 1 | 308 | 0.0033 | -989 | c.134 others(16): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
| POM121_chr7_72920095_72953299 | 72951207 | GCAATCCT others(982): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02630.hp1 |
a0040a0073 | a0040c0048a0073c0100 | a0040c0048t0054a0073c0100t0034 | a0040c0048t0054g0075a0073c0100t0034g0043 | 2 | 424 | 0.0047 | -989 | c.*49 others(11): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 2909 | chr7 | TogoVar | ||||||
| SLIT2_chr4_20246905_20625561 | 20405915 | AAACATTA others(982): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0036a0001c0001t0001g0081a0001c0001t0001g0128others(40): Show | 43 | 230 | 0.1870 | -989 | c.396 others(19): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TEX29_chr13_111315642_111349248 | 111340358 | GTGTTTAG others(982): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02698.hp2 HG03654.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0010a0001c0002t0002 | a0001c0001t0007g0025a0001c0001t0007g0104a0001c0001t0010g0292others(2): Show | 6 | 416 | 0.0144 | -989 | c.239 others(16): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| C7orf50_chr7_992006_1143247 | 1001620 | GGGAGTCC others(981): Show |
G | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 326 | 0.0031 | -988 | c.324 others(17): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675212 | TGAGGACA others(981): Show |
T | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 378 | 0.0027 | -988 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54349223 | TGGATGGA others(981): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0000 | a0000c0016 | a0000c0016t0033 | a0000c0016t0033g0194 | 1 | 462 | 0.0022 | -988 | c.*50 others(11): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 2160 | chr19 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560494 | GCCCTGAG others(981): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0033 | 1 | 180 | 0.0056 | -988 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(981): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 180 | 0.0056 | -988 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560832 | ATTCTTGG others(981): Show |
A | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 180 | 0.0056 | -988 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106698 | GCGTGCTG others(981): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0014 | a0014c0035 | a0014c0035t0001 | a0014c0035t0001g0071 | 1 | 190 | 0.0053 | -988 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMEM95_chr17_7350156_7362219 | 7361231 | AAAAAAAA others(981): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 432 | 0.0023 | -988 | c.*46 others(11): Show |
TMEM95 | ENSG00000182896.13 | transcript | ENST00000576060.6 | protein_coding | 4013 | chr17 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1531894 | TGTGTGCA others(981): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0127 | 1 | 130 | 0.0077 | -988 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UNKL_chr16_1358205_1419704 | 1372998 | ACACAGGG others(981): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0059 | a0001c0001t0017g0183a0001c0003t0059g0297 | 2 | 322 | 0.0062 | -988 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1117318 | TCCTCCCC others(980): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0178a0001c0001t0001g0226a0001c0001t0003g0062others(4): Show | 7 | 337 | 0.0208 | -987 | c.246 others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235621 | CCTCCCGG others(980): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 NA18945.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0032a0001c0003t0039a0002c0002t0007 | a0001c0003t0032g0071a0001c0003t0039g0044a0002c0002t0007g0002 | 3 | 106 | 0.0283 | -987 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235644 | GCCTCCCG others(980): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0046a0002c0002t0064 | a0002c0002t0046g0056a0002c0002t0064g0100 | 2 | 106 | 0.0189 | -987 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235668 | CCCTCCCG others(980): Show |
C | intron_variant | MODIFIER | NA18989.hp1 NA18989.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0035a0002c0002t0062 | a0001c0001t0035g0079a0002c0002t0062g0093 | 2 | 106 | 0.0189 | -987 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 212081 | ATGTGAGC others(980): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0075 | a0001c0001t0051g0210a0001c0001t0075g0211 | 2 | 406 | 0.0049 | -987 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 212302 | TGAGACAG others(980): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp2 others(33): Show |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0015a0001c0002t0042others(27): Show | a0001c0002t0014g0266a0001c0002t0015g0045a0001c0002t0015g0292others(29): Show | 36 | 406 | 0.0887 | -987 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(979): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0061 | 1 | 106 | 0.0094 | -986 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ARHGAP21_chr10_24578614_24728887 | 24656250 | CGGGAGGT others(979): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 352 | 0.0028 | -986 | c.268 others(18): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685648 | GCGTCCCC others(979): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 362 | 0.0028 | -986 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| TERB1_chr16_66749640_66806584 | 66759762 | TACTCCAG others(979): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 352 | 0.0028 | -986 | c.178 others(18): Show |
TERB1 | ENSG00000249961.10 | transcript | ENST00000433154.6 | protein_coding | 16/18 | chr16 | TogoVar | ||||||
| TERB1_chr16_66749640_66806584 | 66759817 | AAAGGAAA others(979): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02602.hp2 others(5): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0035a0001c0003t0001g0133a0001c0003t0001g0134others(5): Show | 8 | 352 | 0.0227 | -986 | c.178 others(18): Show |
TERB1 | ENSG00000249961.10 | transcript | ENST00000433154.6 | protein_coding | 16/18 | chr16 | TogoVar | ||||||
| TMEM95_chr17_7350156_7362219 | 7361233 | AAAAAATT others(979): Show |
A | downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | -986 | c.*46 others(11): Show |
TMEM95 | ENSG00000182896.13 | transcript | ENST00000576060.6 | protein_coding | 4015 | chr17 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238371 | TCCCTGCA others(978): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0031 | 1 | 106 | 0.0094 | -985 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CCT4_chr2_61863085_61893656 | 61892586 | GGGGAGGC others(978): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0238a0001c0002t0002g0239 | 2 | 414 | 0.0048 | -985 | c.-50 others(11): Show |
CCT4 | ENSG00000115484.15 | transcript | ENST00000394440.8 | protein_coding | 3931 | chr2 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686683 | GCCCCCAG others(978): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0170 | 1 | 362 | 0.0028 | -985 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| TBC1D13_chr9_128782253_128815430 | 128794507 | CCTCTGTC others(978): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02602.hp1 HG03490.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0121a0001c0001t0136others(1): Show | a0001c0001t0035g0016a0001c0001t0121g0116a0001c0001t0136g0165others(1): Show | 6 | 398 | 0.0151 | -985 | c.383 others(17): Show |
TBC1D13 | ENSG00000107021.16 | transcript | ENST00000372648.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TERB1_chr16_66749640_66806584 | 66759818 | AAGGAAAG others(978): Show |
A | intron_variant | MODIFIER | HG04228.hp2 NA20905.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137a0001c0003t0001g0138 | 2 | 352 | 0.0057 | -985 | c.178 others(18): Show |
TERB1 | ENSG00000249961.10 | transcript | ENST00000433154.6 | protein_coding | 16/18 | chr16 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25686249 | GCCTCCAG others(977): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(173): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0019a0002c0002others(62): Show | a0001c0001t0001a0001c0019t0001a0001c0019t0003others(72): Show | a0001c0001t0001g0200a0001c0001t0001g0245a0001c0019t0001g0031others(173): Show | 176 | 300 | 0.5867 | -984 | c.329 others(18): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 16/20 | chr15 | TogoVar | ||||||
| GOLGA6L1_chr15_23122066_23141822 | 23124298 | GATAGGCA others(977): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02257.hp1 |
a0003a0028 | a0003c0002a0028c0069 | a0003c0002t0001a0028c0069t0001 | a0003c0002t0001g0065a0028c0069t0001g0120 | 2 | 204 | 0.0098 | -984 | c.*35 others(11): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 2767 | chr15 | TogoVar | ||||||
| GOLGA6L26_chr15_23319535_23339196 | 23321763 | GATAGGCA others(977): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01109.hp2 others(30): Show |
a0001a0007a0008others(8): Show | a0001c0001a0007c0011a0008c0013others(9): Show | a0001c0001t0001a0001c0001t0004a0007c0011t0002others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(22): Show | 33 | 182 | 0.1813 | -984 | c.*35 others(11): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 2771 | chr15 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1024675 | GCTGTGGG others(977): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0078 | 1 | 319 | 0.0031 | -984 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SGTA_chr19_2749715_2788273 | 2772787 | AGGGACAC others(977): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0012a0001c0003t0013 | a0001c0003t0001g0340a0001c0003t0001g0341a0001c0003t0001g0342others(4): Show | 7 | 396 | 0.0177 | -984 | c.-23 others(17): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975609 | GGCCCAGG others(977): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 150 | 0.0067 | -984 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1261346 | TACCATCA others(976): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG02257.hp1 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0023others(5): Show | a0001c0001t0001g0078a0001c0001t0012g0009a0001c0001t0023g0023others(5): Show | 8 | 106 | 0.0755 | -983 | c.119 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
| CLVS1_chr8_61282970_61506629 | 61347346 | GATGGTGG others(976): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 184 | 0.0054 | -983 | c.456 others(19): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393250 | GAAGCCGG others(976): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0129 | a0001c0002t0129g0192 | 1 | 346 | 0.0029 | -983 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar |