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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2178): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02970.hp1 |
a0002a0004 | a0002c0002a0004c0033 | a0002c0002t0002a0004c0033t0003 | a0002c0002t0002g0115a0002c0002t0002g0141a0004c0033t0003g0096 | 3 | 262 | 0.0115 | 2185 | c.212 others(2204): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(2178): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0200 | 1 | 208 | 0.0048 | 2185 | c.279 others(2200): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAG others(2178): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 242 | 0.0041 | 2185 | c.360 others(2204): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2178): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0003 | a0005c0003t0052 | a0005c0003t0052g0070 | 1 | 116 | 0.0086 | 2185 | c.199 others(2204): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758516 | T | TCACCTGC others(2179): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 300 | 0.0033 | 2186 | c.655 others(2205): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38854386 | T | TATAACAA others(2179): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02683.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0295a0001c0001t0009g0152a0001c0001t0009g0153others(4): Show | 7 | 342 | 0.0205 | 2186 | c.187 others(2203): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2179): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0006 | a0006c0018 | a0006c0018t0003 | a0006c0018t0003g0003 | 1 | 292 | 0.0034 | 2186 | c.228 others(2203): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2179): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0175 | 1 | 292 | 0.0034 | 2186 | c.228 others(2203): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2179): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0335 | 1 | 369 | 0.0027 | 2186 | c.-50 others(2197): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2179): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0283 | 1 | 369 | 0.0027 | 2186 | c.-50 others(2197): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2179): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0003a0001c0004t0004 | a0001c0002t0003g0241a0001c0002t0003g0251a0001c0004t0003g0168others(1): Show | 4 | 260 | 0.0154 | 2186 | c.*12 others(2197): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(2179): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 323 | 0.0031 | 2186 | c.-19 others(2197): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(2179): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 178 | 0.0056 | 2186 | c.773 others(2201): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(2179): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 2 | 432 | 0.0046 | 2186 | c.-20 others(2197): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2180): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00738.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0002c0002others(2): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0114a0001c0001t0001g0131a0001c0001t0001g0145others(11): Show | 14 | 262 | 0.0534 | 2187 | c.212 others(2206): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2180): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0025 | a0004c0025t0007 | a0004c0025t0007g0259 | 1 | 294 | 0.0034 | 2187 | c.515 others(2204): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2180): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0081 | 1 | 294 | 0.0034 | 2187 | c.515 others(2204): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2180): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0011 | a0011c0071 | a0011c0071t0001 | a0011c0071t0001g0046 | 1 | 282 | 0.0036 | 2187 | c.299 others(2202): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(2180): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 188 | 0.0053 | 2187 | c.147 others(2204): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2180): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0067 | a0001c0067t0068 | a0001c0067t0068g0110 | 1 | 196 | 0.0051 | 2187 | c.291 others(2206): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431922 | T | TAGTGTGG others(2180): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 | 1 | 376 | 0.0027 | 2187 | c.101 others(2206): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(2180): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0366 | 1 | 376 | 0.0027 | 2187 | c.101 others(2204): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(2180): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0214 | 1 | 376 | 0.0027 | 2187 | c.101 others(2204): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0039 | 1 | 345 | 0.0029 | 2188 | c.*16 others(2199): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 345 | 0.0029 | 2188 | c.*16 others(2199): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0182 | 1 | 345 | 0.0029 | 2188 | c.*16 others(2199): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0000 | a0000c0031 | a0000c0031t0001 | a0000c0031t0001g0019 | 1 | 421 | 0.0024 | 2188 | c.*22 others(2199): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2181): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 421 | 0.0024 | 2188 | c.*22 others(2199): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CCGGGGGG others(2181): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0008 | 1 | 308 | 0.0033 | 2188 | c.157 others(2205): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9406286 | T | TCTTCCTC others(2181): Show |
3_prime_UTR_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0220 | a0001c0001t0220g0105 | 1 | 276 | 0.0036 | 2188 | c.*54 others(2197): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 547 | chr2 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2181): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 301 | 0.0033 | 2188 | c.-11 others(2199): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2181): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0004 | a0004c0005 | a0004c0005t0025 | a0004c0005t0025g0030 | 1 | 238 | 0.0042 | 2188 | c.183 others(2205): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2182): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 262 | 0.0038 | 2189 | c.106 others(2208): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2182): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0142 | 1 | 332 | 0.0030 | 2189 | c.179 others(2204): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2182): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp2 HG02698.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0009a0002c0081a0004c0004others(2): Show | a0001c0009t0006a0002c0081t0001a0004c0004t0002others(2): Show | a0001c0009t0006g0134a0002c0081t0001g0043a0004c0004t0002g0061others(2): Show | 5 | 332 | 0.0151 | 2189 | c.179 others(2204): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0257 | 1 | 260 | 0.0039 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0153a0001c0002t0008g0227 | 2 | 260 | 0.0077 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0010 | 1 | 260 | 0.0039 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01169.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0113a0001c0004t0003g0114 | 2 | 260 | 0.0077 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(25): Show |
a0001 | a0001c0002a0001c0004a0001c0014 | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(5): Show | a0001c0002t0003g0170a0001c0002t0003g0183a0001c0002t0003g0189others(25): Show | 28 | 260 | 0.1077 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0132 | 1 | 260 | 0.0039 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 NA19074.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004 | a0001c0004t0003g0217a0001c0004t0004g0013 | 2 | 260 | 0.0077 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0004t0003others(4): Show | a0001c0002t0006g0110a0001c0002t0006g0148a0001c0002t0007g0045others(6): Show | 9 | 260 | 0.0346 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(31): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0109a0001c0002t0001g0119a0001c0002t0001g0121others(31): Show | 34 | 260 | 0.1308 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG02451.hp2 others(12): Show |
a0001 | a0001c0002a0001c0004a0001c0010others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(4): Show | a0001c0002t0001g0143a0001c0002t0001g0254a0001c0002t0002g0015others(12): Show | 15 | 260 | 0.0577 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2182): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0159 | 1 | 260 | 0.0039 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAG others(2182): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0228 | 1 | 260 | 0.0039 | 2189 | c.*12 others(2200): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2182): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0154 | 1 | 262 | 0.0038 | 2189 | c.212 others(2208): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298680 | A | ACATTATT others(2182): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0019 | a0002c0019t0022 | a0002c0019t0022g0138 | 1 | 176 | 0.0057 | 2189 | c.734 others(2204): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2182): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2189 | c.-20 others(2200): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar |