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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2775): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 18 | 0.0556 | 2782 | c.372 others(2797): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2775): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01516.hp2 HG01517.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | 25 | 0.3200 | 2782 | c.372 others(2797): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SOX13_chr1_204068115_204132743 | 204072705 | G | GTTCTTAA others(2775): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 362 | 0.0028 | 2782 | c.-10 others(2793): Show |
SOX13 | ENSG00000143842.15 | transcript | ENST00000367204.6 | protein_coding | 409 | chr1 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CCGGGGGG others(2776): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0283 | 1 | 242 | 0.0041 | 2783 | c.157 others(2798): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2776): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2783 | c.-17 others(2794): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2776): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0163 a0003c0004t0010g0164 |
2 | 107 | 0.0187 | 2783 | c.353 others(2800): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2776): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 63 | 0.0159 | 2783 | c.*14 others(2794): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2776): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0249 | 1 | 63 | 0.0159 | 2783 | c.*14 others(2794): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(2776): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0241 | 1 | 232 | 0.0043 | 2783 | c.781 others(2800): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2776): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 23 | 0.0435 | 2783 | c.284 others(2802): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2776): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01433.hp1 HG03834.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0188 |
3 | 20 | 0.1500 | 2783 | c.372 others(2798): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2776): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0173 | 1 | 18 | 0.0556 | 2783 | c.372 others(2798): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2776): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0281 |
2 | 19 | 0.1053 | 2783 | c.372 others(2798): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2777): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 50 | 0.0200 | 2784 | c.147 others(2801): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585351 | T | TGAGGGAG others(2777): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 337 | 0.0030 | 2784 | c.-22 others(2801): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGGA others(2777): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0169 | 1 | 257 | 0.0039 | 2784 | c.157 others(2801): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2777): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 227 | 0.0044 | 2784 | c.-25 others(2801): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76591340 | G | GTCAATCC others(2777): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0201 | 1 | 220 | 0.0045 | 2784 | c.819 others(2799): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2777): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 159 | 0.0063 | 2784 | c.-27 others(2801): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3358525 | G | GTTTTTTT others(2777): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 309 | 0.0032 | 2784 | c.199 others(2805): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2777): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0175 | 1 | 18 | 0.0556 | 2784 | c.372 others(2799): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2777): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 18 | 0.0556 | 2784 | c.372 others(2799): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2777): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0361 |
2 | 19 | 0.1053 | 2784 | c.372 others(2799): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2777): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0196 |
2 | 19 | 0.1053 | 2784 | c.372 others(2799): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2777): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 18 | 0.0556 | 2784 | c.372 others(2799): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2777): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0195 a0001c0001t0001g0260 |
3 | 20 | 0.1500 | 2784 | c.372 others(2799): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063911 | G | GAAGGGAG others(2777): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 163 | 0.0061 | 2784 | c.*53 others(2795): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2244 | chr13 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2778): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0069 | 1 | 371 | 0.0027 | 2785 | c.96+ others(2800): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2778): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0170 | 1 | 288 | 0.0035 | 2785 | c.96+ others(2800): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803280 | G | GCCGGGGG others(2778): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0119 | 1 | 309 | 0.0032 | 2785 | c.666 others(2800): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819299 | C | CTTCCCTC others(2778): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0005 | a0005c0004 | a0005c0004t0013 | a0005c0004t0013g0050 | 1 | 63 | 0.0159 | 2785 | c.56- others(2798): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2778): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18961.hp1 NA18962.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0156 a0001c0001t0011g0010 a0001c0001t0011g0138 others(5): Show |
9 | 114 | 0.0789 | 2785 | c.353 others(2802): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2778): Show |
intron_variant | MODIFIER | HG03492.hp1 HG04228.hp2 |
a0003 | a0003c0004a0003c0006 | a0003c0004t0007a0003c0006t0007 | a0003c0004t0007g0162 a0003c0006t0007g0076 |
2 | 107 | 0.0187 | 2785 | c.353 others(2802): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2778): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01071.hp1 others(6): Show |
a0001a0003a0011 | a0001c0001a0003c0004a0011c0015 | a0001c0001t0003a0001c0001t0021a0003c0004t0007others(1): Show | a0001c0001t0003g0130 a0001c0001t0021g0015 a0001c0001t0021g0127 others(6): Show |
9 | 114 | 0.0789 | 2785 | c.353 others(2802): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2778): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0101 | 1 | 63 | 0.0159 | 2785 | c.*14 others(2796): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGG others(2778): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0113 | 1 | 247 | 0.0040 | 2785 | c.-49 others(2796): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2778): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0176 a0002c0003t0001g0179 |
2 | 19 | 0.1053 | 2785 | c.372 others(2800): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2778): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0258 | 1 | 18 | 0.0556 | 2785 | c.372 others(2800): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2778): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0241 | 1 | 18 | 0.0556 | 2785 | c.372 others(2800): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2778): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 18 | 0.0556 | 2785 | c.372 others(2800): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2778): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 18 | 0.0556 | 2785 | c.372 others(2800): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46726621 | T | TTAAAATA others(2778): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 328 | 0.0030 | 2785 | c.132 others(2804): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58323670 | T | TAAAGAAG others(2778): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 393 | 0.0025 | 2785 | c.-34 others(2796): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 3323 | chr19 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(2779): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0217 | 1 | 57 | 0.0175 | 2786 | c.62+ others(2799): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2779): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0105 | 1 | 30 | 0.0333 | 2786 | c.445 others(2801): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2779): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0101 a0002c0002t0005g0102 |
2 | 31 | 0.0645 | 2786 | c.445 others(2801): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2779): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 159 | 0.0063 | 2786 | c.-27 others(2803): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2779): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 7 | 0.1429 | 2786 | c.*27 others(2797): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414379 | A | AGGCAGGG others(2779): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0032 | 1 | 372 | 0.0027 | 2786 | c.115 others(2803): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2780): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0056 | 1 | 371 | 0.0027 | 2787 | c.96+ others(2802): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar |