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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0026 | 1 | 32 | 0.0313 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | HG02300.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0128 a0001c0001t0032g0275 |
2 | 33 | 0.0606 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01884.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0186 a0001c0001t0001g0239 a0001c0001t0001g0241 others(11): Show |
14 | 45 | 0.3111 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02132.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0004g0167 a0001c0001t0004g0194 a0001c0001t0005g0106 others(3): Show |
6 | 37 | 0.1622 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0112 | a0001c0001t0001g0250 a0001c0001t0112g0132 |
2 | 33 | 0.0606 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0003g0013 a0001c0001t0003g0066 a0001c0001t0009g0074 others(3): Show |
6 | 37 | 0.1622 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 32 | 0.0313 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(280): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01361.hp1 HG01981.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0112 a0001c0001t0002g0192 a0001c0001t0002g0247 others(5): Show |
8 | 39 | 0.2051 | 287 | c.563 others(306): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1025618 | T | TCTGTGGG others(280): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0009 | a0005c0009t0010 | a0005c0009t0010g0110 | 1 | 267 | 0.0037 | 287 | c.142 others(304): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993551 | C | CCCCTCCC others(280): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0014 | a0005c0014t0014 | a0005c0014t0014g0171 | 1 | 275 | 0.0036 | 287 | c.*56 others(298): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4923 | chr19 | TogoVar | |||||||
OPRM1_chr6_154034240_154137356 | 154100218 | C | CATATATC others(280): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 58 | 0.0172 | 287 | c.116 others(306): Show |
OPRM1 | ENSG00000112038.18 | transcript | ENST00000330432.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
OTOF_chr2_26452203_26483124 | 26476523 | C | CCCCTTCC others(280): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 261 | 0.0077 | 287 | c.436 others(302): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
OTOF_chr2_26452203_26483124 | 26476523 | C | CCCCTTCC others(280): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 260 | 0.0038 | 287 | c.436 others(302): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCCCCAC others(280): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0308 | 1 | 68 | 0.0147 | 287 | c.226 others(306): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981712 | A | ATGGTGAT others(280): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 357 | 0.0028 | 287 | c.255 others(306): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981752 | A | ATGGTGAT others(280): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 |
2 | 377 | 0.0053 | 287 | c.255 others(306): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(280): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(8): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0236 a0001c0001t0002g0228 a0001c0001t0002g0237 others(8): Show |
11 | 17 | 0.6471 | 287 | c.-37 others(298): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PDPK1_chr16_2533021_2608188 | 2551667 | T | TTTTTTTG others(280): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01943.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0111 |
3 | 182 | 0.0165 | 287 | c.25- others(302): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976875 | C | CCAACCCC others(280): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0009 | a0009c0013 | a0009c0013t0016 | a0009c0013t0016g0181 | 1 | 392 | 0.0026 | 287 | c.215 others(304): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7203172 | A | AACTGGAC others(280): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0215 | 1 | 419 | 0.0024 | 287 | c.847 others(302): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109358643 | C | CAAAAAAT others(280): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 HG02738.hp1 HG03491.hp2 others(2): Show |
a0003a0045 | a0003c0003a0045c0040 | a0003c0003t0003a0045c0040t0003 | a0003c0003t0003g0152 a0003c0003t0003g0158 a0003c0003t0003g0161 others(2): Show |
5 | 250 | 0.0200 | 287 | c.-39 others(298): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 3817 | chr8 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291551 | A | AGGGGAGG others(280): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0150 | 1 | 277 | 0.0036 | 287 | c.-21 others(296): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 149 | chr19 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50285652 | A | ACCGGCCG others(280): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0269 | 1 | 214 | 0.0047 | 287 | c.208 others(304): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998757 | A | ATATATTT others(280): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 |
2 | 278 | 0.0072 | 287 | c.-50 others(298): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4642 | chrX | TogoVar | |||||||
PPM1E_chr17_58750854_58990179 | 58966535 | A | ACTGACGC others(280): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 310 | 0.0032 | 287 | c.783 others(302): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12884832 | T | TAAGAAAA others(280): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02451.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0086 a0001c0001t0011g0083 a0001c0001t0011g0084 |
3 | 367 | 0.0082 | 287 | c.-69 others(296): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 596 | chr18 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1719898 | C | CAGAGAGA others(280): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 258 | 0.0039 | 287 | c.200 others(306): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500842 | A | AGGGAGGA others(280): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0146 a0001c0003t0002g0012 a0001c0003t0002g0048 others(2): Show |
8 | 293 | 0.0273 | 287 | c.*36 others(298): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2916 | chr19 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881964 | A | ATATAGAT others(280): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 399 | 0.0025 | 287 | c.*22 others(298): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2044 | chr13 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 340736 | C | CCAGGCCT others(280): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0029 | a0001c0001t0001g0104 a0001c0002t0029g0103 |
2 | 128 | 0.0156 | 287 | c.-21 others(306): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 340736 | C | CCAGGCCT others(280): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01358.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0061 a0001c0001t0013g0107 a0001c0001t0013g0108 |
3 | 129 | 0.0233 | 287 | c.-21 others(306): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477006 | G | GGGGGTGC others(280): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 403 | 0.0025 | 287 | c.727 others(302): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477223 | G | GCCCCCTC others(280): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 389 | 0.0026 | 287 | c.727 others(300): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCACAGC others(280): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 122 | 0.0082 | 287 | c.727 others(300): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(280): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 122 | 0.0082 | 287 | c.727 others(300): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477245 | C | CACACCCT others(280): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0164 | 1 | 153 | 0.0065 | 287 | c.727 others(300): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477245 | C | CACACCCT others(280): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18954.hp2 NA18955.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 others(3): Show |
6 | 158 | 0.0380 | 287 | c.727 others(300): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477245 | C | CACACCCT others(280): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18982.hp2 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 a0001c0002t0002g0110 a0001c0002t0002g0138 |
3 | 155 | 0.0194 | 287 | c.727 others(300): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477266 | C | CCCACAGC others(280): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0118 | 1 | 399 | 0.0025 | 287 | c.727 others(300): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148481015 | T | TAAAAATG others(280): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01243.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0151 a0001c0001t0002g0154 a0001c0001t0005g0224 others(14): Show |
17 | 287 | 0.0592 | 287 | c.628 others(304): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76800144 | T | TATACATG others(280): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 217 | 0.0046 | 287 | c.611 others(302): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 7/31 | chr15 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(280): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0012 | 1 | 173 | 0.0058 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(280): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0164 | 1 | 173 | 0.0058 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(280): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 173 | 0.0058 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(280): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0225 | 1 | 173 | 0.0058 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839692 | G | GGCACACA others(280): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18944.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0010 | a0001c0001t0004g0297 a0001c0007t0010g0156 |
2 | 236 | 0.0085 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839733 | G | GGCACACA others(280): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02280.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0016a0001c0005t0003a0001c0005t0004 | a0001c0001t0016g0240 a0001c0005t0003g0349 a0001c0005t0004g0347 |
3 | 309 | 0.0097 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839759 | C | CACCCTCA others(280): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0275 | 1 | 349 | 0.0029 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124839925 | C | CCCTCACC others(280): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0351 | 1 | 345 | 0.0029 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(280): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0341 | 1 | 21 | 0.0476 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar |