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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(662): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0194a0001c0001t0004g0195 | 2 | 346 | 0.0058 | 669 | c.-70 others(686): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(662): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 346 | 0.0029 | 669 | c.-70 others(686): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(662): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 346 | 0.0029 | 669 | c.-70 others(686): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGA others(662): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 669 | c.*12 others(680): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(662): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 350 | 0.0029 | 669 | c.440 others(686): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(662): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 302 | 0.0033 | 669 | c.12+ others(684): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(662): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 302 | 0.0033 | 669 | c.12+ others(684): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(662): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 302 | 0.0033 | 669 | c.12+ others(684): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7454405 | G | GTGCTGTG others(662): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0028a0001c0002t0006g0158a0001c0002t0006g0159 | 3 | 168 | 0.0179 | 669 | c.548 others(688): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SRSF9_chr12_120456672_120474748 | 120467991 | A | AGCTGAGG others(662): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02622.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0053a0001c0001t0004g0024 | 4 | 444 | 0.0090 | 669 | c.188 others(686): Show |
SRSF9 | ENSG00000111786.10 | transcript | ENST00000229390.8 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273332 | A | ACATCAGA others(662): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 392 | 0.0026 | 669 | c.228 others(688): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(662): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 388 | 0.0026 | 669 | c.*22 others(680): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(662): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 384 | 0.0026 | 669 | c.424 others(686): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
VCX3B_chrX_8459830_8471510 | 8467226 | G | GGGAGGGG others(662): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0044 | a0044c0047 | a0044c0047t0025 | a0044c0047t0025g0031 | 1 | 271 | 0.0037 | 669 | c.*84 others(678): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 717 | chrX | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(662): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 326 | 0.0031 | 669 | c.483 others(684): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAGGG others(662): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0010 | a0010c0045 | a0010c0045t0003 | a0010c0045t0003g0085 | 1 | 290 | 0.0035 | 669 | c.205 others(688): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(663): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0178 | 1 | 249 | 0.0040 | 670 | c.49- others(685): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118421 | T | TTCCTCCC others(663): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0083 | a0001c0003t0083g0285 | 1 | 337 | 0.0030 | 670 | c.246 others(687): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153708 | T | TCCAGGCA others(663): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 337 | 0.0030 | 670 | c.61+ others(687): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6318734 | T | TGAGATCG others(663): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0153a0001c0001t0001g0342 | 3 | 396 | 0.0076 | 670 | c.94- others(685): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6318734 | T | TGAGATCG others(663): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02145.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0146others(11): Show | 14 | 396 | 0.0354 | 670 | c.94- others(685): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(663): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0035 | a0035c0046 | a0035c0046t0085 | a0035c0046t0085g0169 | 1 | 262 | 0.0038 | 670 | c.775 others(685): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(663): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0222 | 1 | 262 | 0.0038 | 670 | c.775 others(685): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581417 | C | CACGTATA others(663): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0111 | a0001c0002t0111g0096 | 1 | 169 | 0.0059 | 670 | c.48- others(687): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | chrX | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687156 | C | CCCCCGTG others(663): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 246 | 0.0041 | 670 | c.-15 others(681): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1311 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(663): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 246 | 0.0041 | 670 | c.-16 others(681): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687639 | T | TGAGCACT others(663): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 246 | 0.0041 | 670 | c.-20 others(681): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1794 | chr8 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421114 | G | GTGTGTAT others(663): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0286 | 1 | 304 | 0.0033 | 670 | c.331 others(689): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358066 | C | CCTGTGTG others(663): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 670 | c.290 others(689): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79358312 | G | GTGCTCTG others(663): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 298 | 0.0034 | 670 | c.290 others(689): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(663): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 292 | 0.0034 | 670 | c.*21 others(685): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 209082 | C | CAGGACTC others(663): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0139 | 1 | 406 | 0.0025 | 670 | c.122 others(687): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(663): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0069a0001c0001t0001g0080a0001c0001t0001g0081others(29): Show | 32 | 184 | 0.1739 | 670 | c.449 others(687): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(663): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0006 | 1 | 184 | 0.0054 | 670 | c.449 others(687): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(663): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03654.hp1 NA18964.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0010others(2): Show | a0001c0002t0001g0114a0001c0002t0005g0067a0001c0002t0010g0094others(2): Show | 5 | 184 | 0.0272 | 670 | c.449 others(687): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(663): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG03834.hp2 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060a0001c0002t0001g0068a0001c0002t0001g0076 | 3 | 168 | 0.0179 | 670 | c.-26 others(679): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(663): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(22): Show |
a0001a0003a0024others(2): Show | a0001c0001a0001c0009a0003c0003others(5): Show | a0001c0001t0001a0001c0009t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0101a0001c0001t0001g0124others(12): Show | 25 | 428 | 0.0584 | 670 | c.217 others(685): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(663): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 | 1 | 428 | 0.0023 | 670 | c.217 others(685): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(663): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18978.hp1 NA19003.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0223 | 5 | 428 | 0.0117 | 670 | c.217 others(685): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(663): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0072 | a0003c0072t0001 | a0003c0072t0001g0069 | 1 | 428 | 0.0023 | 670 | c.217 others(685): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1329481 | C | CTCTGCTT others(663): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 370 | 0.0027 | 670 | c.108 others(687): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255786 | A | AGGGGAAA others(663): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18982.hp1 |
a0003a0004 | a0003c0049a0004c0077 | a0003c0049t0001a0004c0077t0001 | a0003c0049t0001g0243a0004c0077t0001g0015 | 2 | 344 | 0.0058 | 670 | c.85- others(687): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(663): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 230 | 0.0044 | 670 | c.724 others(689): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135097 | G | GCTCCTCC others(663): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | 670 | c.*41 others(681): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1496 | chr12 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212132 | T | TATTTACT others(663): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 148 | 0.0068 | 670 | c.212 others(691): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(663): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 212 | 0.0047 | 670 | c.316 others(689): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400719 | C | CCACCACC others(663): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0049 | a0001c0049t0013 | a0001c0049t0013g0219 | 1 | 256 | 0.0039 | 670 | c.323 others(689): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EBF2_chr8_25836725_26050413 | 26005383 | T | TAATTATA others(663): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01071.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0080a0001c0001t0002g0022a0001c0001t0002g0137others(14): Show | 17 | 220 | 0.0773 | 670 | c.551 others(689): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGGAGGAA others(663): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0064 | 1 | 82 | 0.0122 | 670 | c.757 others(685): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113151727 | C | CCCTGAGG others(663): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0180 | 1 | 412 | 0.0024 | 670 | c.*22 others(681): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2199 | chr13 | TogoVar |