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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(992): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 320 | 0.0031 | 999 | c.380 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(992): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 320 | 0.0031 | 999 | c.380 others(1016): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(992): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0038 | a0003c0038t0001 | a0003c0038t0001g0136 | 1 | 272 | 0.0037 | 999 | c.109 others(1018): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(992): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0028 | a0001c0028t0038 | a0001c0028t0038g0138 | 1 | 272 | 0.0037 | 999 | c.109 others(1018): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237121 | G | GGGAGAGG others(992): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 999 | c.*29 others(1010): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2841 | chr11 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(992): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 208 | 0.0048 | 999 | c.282 others(1018): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(992): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0048 | a0005c0048t0001 | a0005c0048t0001g0206 | 1 | 208 | 0.0048 | 999 | c.282 others(1018): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FHOD3_chr18_36292713_36785220 | 36463434 | A | AAAAAAAT others(992): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0101 | 1 | 168 | 0.0060 | 999 | c.338 others(1018): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(992): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 350 | 0.0029 | 999 | c.94- others(1012): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544868 | C | CACCACTA others(992): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0038 | a0003c0038t0059 | a0003c0038t0059g0080 | 1 | 134 | 0.0075 | 999 | c.520 others(1020): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184620 | A | ACCCAGTG others(992): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0269a0001c0005t0001g0270 | 2 | 358 | 0.0056 | 999 | c.*64 others(1010): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3825 | chr21 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186578 | G | GGAGGAAC others(992): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 350 | 0.0029 | 999 | c.*26 others(1010): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2411 | chr16 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(992): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0055 | a0001c0055t0007 | a0001c0055t0007g0074 | 1 | 278 | 0.0036 | 999 | c.115 others(1016): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(992): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG02055.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003a0001c0001t0005g0262a0001c0001t0005g0263others(10): Show | 17 | 328 | 0.0518 | 999 | c.27- others(1014): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(992): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG01934.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0153a0001c0001t0002g0017a0001c0001t0002g0152others(3): Show | 7 | 328 | 0.0213 | 999 | c.27- others(1014): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(992): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 308 | 0.0033 | 999 | c.371 others(1016): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(992): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0048 | 1 | 67 | 0.0149 | 999 | c.159 others(1016): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554464 | C | CACCTGGC others(992): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 154 | 0.0065 | 999 | c.-32 others(1020): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314675 | T | TCTGTGCC others(992): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023a0001c0001t0014g0106 | 2 | 133 | 0.0150 | 999 | c.351 others(1016): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(992): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 412 | 0.0073 | 999 | c.-48 others(1010): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(992): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0088 | 1 | 203 | 0.0049 | 999 | c.167 others(1014): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1148700 | T | TCCTCCTT others(992): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0068 | 1 | 203 | 0.0049 | 999 | c.167 others(1014): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(992): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0106 | 1 | 376 | 0.0027 | 999 | c.101 others(1018): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431967 | T | TAGGGTGG others(992): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0185 | 1 | 376 | 0.0027 | 999 | c.101 others(1016): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432083 | T | TTAGGGTG others(992): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0286 | 1 | 376 | 0.0027 | 999 | c.101 others(1016): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 246325221 | G | GGGAAGGA others(992): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 150 | 0.0067 | 999 | c.531 others(1016): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48384377 | G | GGAGAGGG others(992): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 322 | 0.0031 | 999 | c.909 others(1014): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46184620 | A | ACCCAGTG others(992): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0042 | 1 | 251 | 0.0040 | 999 | c.-12 others(1010): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 162 | chr21 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(992): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0067a0001c0001t0010g0034 | 2 | 94 | 0.0213 | 999 | c.79+ others(1016): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(992): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0004 | 1 | 174 | 0.0058 | 999 | c.41- others(1016): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3221997 | C | CCATCACC others(992): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 360 | 0.0028 | 999 | c.*27 others(1010): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2279 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(992): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 999 | c.*24 others(1010): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(992): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG01934.hp2 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0002g0022others(1): Show | 15 | 360 | 0.0417 | 999 | c.*24 others(1010): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(992): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 360 | 0.0028 | 999 | c.*24 others(1010): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(992): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 238 | 0.0042 | 999 | c.392 others(1016): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237121 | G | GGGAGAGG others(992): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 328 | 0.0031 | 999 | c.375 others(1012): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar |