| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LMF1_chr16_848634_975984 | 858389 | T | TCGGGACG others(416): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 264 | 0.0038 | 423 | c.153 others(442): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 858543 | C | CAGTGGTG others(416): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0034 | a0004c0034t0015 | a0004c0034t0015g0273 | 1 | 268 | 0.0037 | 423 | c.153 others(442): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LUC7L_chr16_183990_234449 | 186391 | G | GGAGGAAC others(416): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0333 | 1 | 302 | 0.0033 | 423 | c.*28 others(434): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2598 | chr16 | TogoVar | |||||||
| MAN2B2_chr4_6570189_6628362 | 6579289 | T | TCACCACC others(416): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0258 |
2 | 267 | 0.0075 | 423 | c.391 others(438): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(416): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18983.hp1 |
a0001a0041 | a0001c0001a0041c0023 | a0001c0001t0001a0041c0023t0001 | a0001c0001t0001g0162 a0041c0023t0001g0056 |
2 | 33 | 0.0606 | 423 | c.218 others(438): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
| METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(416): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02145.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 |
4 | 244 | 0.0164 | 423 | c.112 others(440): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(416): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 241 | 0.0041 | 423 | c.112 others(440): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17876847 | G | GGGAAGTT others(416): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0166 | 1 | 236 | 0.0042 | 423 | c.224 others(442): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17877049 | G | GGTTAGGG others(416): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0048 | a0002c0048t0002 | a0002c0048t0002g0076 | 1 | 270 | 0.0037 | 423 | c.224 others(442): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17877522 | G | GGGAAGTT others(416): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 198 | 0.0051 | 423 | c.224 others(442): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237542873 | G | GGGGATGG others(416): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 | 1 | 282 | 0.0035 | 423 | c.153 others(440): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(416): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG02145.hp2 HG02148.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0034 |
4 | 226 | 0.0177 | 423 | c.*18 others(434): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(416): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 223 | 0.0045 | 423 | c.*18 others(434): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | |||||||
| MSH4_chr1_75791882_75918242 | 75906518 | T | TTGTATAT others(416): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0263 |
2 | 39 | 0.0513 | 423 | c.262 others(442): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | |||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(416): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 196 | 0.0051 | 423 | c.-28 others(434): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAT others(416): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0196 | 1 | 202 | 0.0050 | 423 | c.48+ others(438): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806805 | C | CCTCAACC others(416): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 317 | 0.0032 | 423 | c.-24 others(434): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2387 | chr2 | TogoVar | |||||||
| NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(416): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 157 | 0.0064 | 423 | c.91+ others(436): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NRDE2_chr14_90262860_90336941 | 90300868 | A | AGGAGGGG others(416): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0199 | 1 | 142 | 0.0070 | 423 | c.154 others(440): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(416): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0145 a0001c0001t0004g0002 |
2 | 31 | 0.0645 | 423 | c.433 others(440): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| NUP93_chr16_56725129_56855286 | 56808192 | A | ATAACTAT others(416): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18949.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0254 a0001c0003t0002g0273 |
2 | 315 | 0.0063 | 423 | c.489 others(440): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56808192 | A | ATAACTAT others(416): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0297 | 1 | 314 | 0.0032 | 423 | c.489 others(440): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841574 | A | AGCATCTC others(416): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0173 | 1 | 148 | 0.0068 | 423 | c.361 others(442): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OPCML_chr11_132409981_133537501 | 133082525 | C | CCCTCCTC others(416): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 | 1 | 59 | 0.0169 | 423 | c.62- others(442): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
| OPCML_chr11_132409981_133537501 | 133082525 | C | CCCTCCTC others(416): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01255.hp1 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 others(4): Show |
7 | 65 | 0.1077 | 423 | c.62- others(442): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
| OTOF_chr2_26452203_26483124 | 26476493 | T | TCCCCCAC others(416): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 324 | 0.0031 | 423 | c.436 others(438): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
| PLCB1_chr20_8127266_8889900 | 8661960 | T | TAATTATT others(416): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0036 | 1 | 86 | 0.0116 | 423 | c.862 others(440): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(416): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03579.hp2 |
a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0297 a0001c0008t0003g0302 |
2 | 211 | 0.0095 | 423 | c.227 others(440): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50397973 | A | AGGGGGCC others(416): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0113 | 1 | 257 | 0.0039 | 423 | c.227 others(440): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PRPF31_chr19_54110754_54136713 | 54133778 | T | TCTCTCCA others(416): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 207 | 0.0048 | 423 | c.*23 others(434): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2066 | chr19 | TogoVar | |||||||
| PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(416): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 73 | 0.0137 | 423 | c.*23 others(434): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
| RAB7B_chr1_205971740_206008395 | 205985758 | C | CACCAGGC others(416): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 300 | 0.0033 | 423 | c.397 others(436): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(416): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 30 | 0.0333 | 423 | c.*36 others(434): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(416): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 30 | 0.0333 | 423 | c.*36 others(434): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130641292 | C | CATGGTGA others(416): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0117 | 1 | 118 | 0.0085 | 423 | c.-35 others(444): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130641372 | C | CGGGCTGG others(416): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0116 | 1 | 155 | 0.0065 | 423 | c.-35 others(444): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| RPA3_chr7_7631518_7723607 | 7679038 | T | TATAAATA others(416): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0290 | 1 | 235 | 0.0043 | 423 | c.-75 others(442): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RPA3_chr7_7631518_7723607 | 7679122 | A | AAATATAT others(416): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 306 | 0.0033 | 423 | c.-75 others(442): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(416): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0116 | 1 | 2 | 0.5000 | 423 | c.807 others(440): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
| RUNDC3B_chr7_87623398_87837296 | 87626665 | T | TATACATG others(416): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0010 | 1 | 199 | 0.0050 | 423 | c.-21 others(434): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1732 | chr7 | TogoVar | |||||||
| SARDH_chr9_133658560_133743352 | 133669058 | T | TCTCTCTC others(416): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 248 | 0.0040 | 423 | c.249 others(442): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(416): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 136 | 0.0074 | 423 | c.464 others(436): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(416): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0004 | a0004c0048 | a0004c0048t0066 | a0004c0048t0066g0241 | 1 | 122 | 0.0082 | 423 | c.89- others(436): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31431769 | G | GAGGGTGG others(416): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0240 | 1 | 361 | 0.0028 | 423 | c.101 others(442): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431790 | G | GGTGGTTA others(416): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0033 | 1 | 374 | 0.0027 | 423 | c.101 others(442): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31432102 | C | CAGGGTGG others(416): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 | 1 | 182 | 0.0055 | 423 | c.101 others(440): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401787 | C | CCCGCTCA others(416): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 218 | 0.0046 | 423 | c.*41 others(434): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3928 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401787 | C | CCCGCTCA others(416): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 218 | 0.0046 | 423 | c.*41 others(434): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3928 | chr11 | TogoVar | |||||||
| SLC19A1_chr21_45507565_45547440 | 45527686 | A | AGGCAGGG others(416): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0049 | 1 | 178 | 0.0056 | 423 | c.115 others(442): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 4/5 | chr21 | TogoVar | |||||||
| SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(416): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0204 others(1): Show |
4 | 15 | 0.2667 | 423 | c.209 others(440): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar |