| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LAIR1_chr19_54346384_54369931 | 54349830 | G | GTGAATGG others(515): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0176 | 1 | 462 | 0.0022 | 522 | c.*54 others(533): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1553 | chr19 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54349830 | G | GTGAATGG others(515): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01358.hp2 others(13): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0007a0001c0001t0013a0001c0005t0013others(3): Show | a0001c0001t0007g0024a0001c0001t0007g0079a0001c0001t0007g0080others(9): Show | 16 | 462 | 0.0346 | 522 | c.*54 others(533): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1553 | chr19 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54349830 | G | GTGAATGG others(515): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG03579.hp1 HG06807.hp2 |
a0001a0004 | a0001c0001a0004c0023 | a0001c0001t0024a0004c0023t0031 | a0001c0001t0024g0180a0001c0001t0024g0182a0004c0023t0031g0069 | 3 | 462 | 0.0065 | 522 | c.*54 others(533): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1553 | chr19 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62349743 | G | GTGGGGGT others(515): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0031 | a0031c0070 | a0031c0070t0001 | a0031c0070t0001g0050 | 1 | 186 | 0.0054 | 522 | c.956 others(539): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(515): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 308 | 0.0033 | 522 | c.*66 others(533): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | ||||||
| LHFPL3_chr7_104323603_104913561 | 104824192 | T | TATTATAT others(515): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0011 | 1 | 86 | 0.0116 | 522 | c.683 others(541): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471517 | T | TTATATAT others(515): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 260 | 0.0039 | 522 | c.125 others(539): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 961150 | G | GACACAGA others(515): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02976.hp1 |
a0001a0009 | a0001c0005a0009c0024 | a0001c0005t0001a0009c0024t0001 | a0001c0005t0001g0109a0009c0024t0001g0118 | 2 | 294 | 0.0068 | 522 | c.194 others(539): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCGGTG others(515): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0257 | 1 | 414 | 0.0024 | 522 | c.171 others(539): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(515): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03490.hp2 |
a0004a0025 | a0004c0038a0025c0030 | a0004c0038t0001a0025c0030t0001 | a0004c0038t0001g0084a0025c0030t0001g0067 | 2 | 246 | 0.0081 | 522 | c.171 others(539): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579066 | C | CCACCACC others(515): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0027 | 1 | 362 | 0.0028 | 522 | c.391 others(537): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MBD3L3_chr19_7051207_7063676 | 7061806 | T | TATATAAT others(515): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0025a0005c0006t0001g0031 | 2 | 288 | 0.0069 | 522 | c.-32 others(533): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3131 | chr19 | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314939 | T | TTTTGAGA others(515): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02257.hp2 NA19240.hp1 |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0012 | a0001c0001t0005a0002c0002t0006a0014c0012t0009 | a0001c0001t0005g0172a0002c0002t0006g0117a0014c0012t0009g0173 | 3 | 176 | 0.0171 | 522 | c.753 others(539): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314943 | T | TTTTGAGA others(515): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0100a0001c0001t0001g0103a0001c0001t0002g0094others(3): Show | 6 | 176 | 0.0341 | 522 | c.753 others(539): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583376 | C | CCGCAGCC others(515): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0084 | a0084c0064 | a0084c0064t0035 | a0084c0064t0035g0001 | 1 | 292 | 0.0034 | 522 | c.377 others(539): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583504 | G | GCAGCCAC others(515): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0007 | a0007c0008 | a0007c0008t0014 | a0007c0008t0014g0002 | 1 | 292 | 0.0034 | 522 | c.377 others(539): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17876874 | G | GGGAGGTT others(515): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 274 | 0.0037 | 522 | c.224 others(541): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17877167 | G | GTGAGGGA others(515): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 274 | 0.0037 | 522 | c.224 others(541): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17877396 | G | GAGAAGTT others(515): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0162 | 1 | 274 | 0.0037 | 522 | c.224 others(541): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767711 | G | GGAGTGTG others(515): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 388 | 0.0026 | 522 | c.159 others(539): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(515): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0140 | 1 | 312 | 0.0032 | 522 | c.293 others(541): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(515): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0137 | 1 | 364 | 0.0028 | 522 | c.394 others(537): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MYO1C_chr17_1459186_1497686 | 1482669 | C | CCCCTCCC others(515): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0119 | 1 | 430 | 0.0023 | 522 | c.547 others(537): Show |
MYO1C | ENSG00000197879.17 | transcript | ENST00000648651.1 | protein_coding | 4/31 | chr17 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCGGTG others(515): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 384 | 0.0026 | 522 | c.-41 others(533): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NFILZ_chr19_8625633_8686151 | 8678099 | A | ATCCGTTC others(515): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01069.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0053a0003c0003t0011g0070a0003c0003t0011g0072others(2): Show | 5 | 366 | 0.0137 | 522 | c.*46 others(531): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 468 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NOC4L_chr12_132139457_132157468 | 132149664 | C | CACACCAC others(515): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 294 | 0.0034 | 522 | c.901 others(537): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(515): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0244 | 1 | 324 | 0.0031 | 522 | c.140 others(539): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(515): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 386 | 0.0026 | 522 | c.*92 others(533): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(515): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003a0001c0005t0035 | a0001c0001t0003g0182a0001c0005t0003g0239a0001c0005t0035g0316 | 3 | 386 | 0.0078 | 522 | c.*92 others(533): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(515): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02717.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0026a0001c0002t0053 | a0001c0002t0026g0009a0001c0002t0026g0278a0001c0002t0053g0327 | 4 | 386 | 0.0104 | 522 | c.*92 others(533): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(515): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 268 | 0.0037 | 522 | c.292 others(537): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(515): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 400 | 0.0025 | 522 | c.*70 others(533): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(515): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 216 | 0.0046 | 522 | c.106 others(539): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 398758 | G | GTACCCCC others(515): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0041 | 1 | 216 | 0.0046 | 522 | c.106 others(539): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3287611 | T | TGCGGGCA others(515): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0038 | 1 | 210 | 0.0048 | 522 | c.438 others(541): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(515): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 295 | 0.0034 | 522 | c.126 others(541): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(515): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0144 | 1 | 218 | 0.0046 | 522 | c.80+ others(539): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RIN3_chr14_92508781_92693994 | 92547135 | G | GTAAATTA others(515): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0232 | 1 | 334 | 0.0030 | 522 | c.45- others(537): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RNF213_chr17_80255852_80403794 | 80281590 | G | GCCAACAC others(515): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0013 | a0013c0012 | a0013c0012t0055 | a0013c0012t0055g0225 | 1 | 292 | 0.0034 | 522 | c.262 others(539): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RNF213_chr17_80255852_80403794 | 80355600 | G | GGGGAAGA others(515): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0054 | a0054c0137 | a0054c0137t0016 | a0054c0137t0016g0015 | 1 | 292 | 0.0034 | 522 | c.108 others(543): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80743919 | A | ACTAGCAC others(515): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19068.hp1 |
a0001 | a0001c0004a0001c0022 | a0001c0004t0001a0001c0022t0001 | a0001c0004t0001g0152a0001c0022t0001g0132 | 2 | 196 | 0.0102 | 522 | c.655 others(541): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80743919 | A | ACTAGCAC others(515): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0015 | a0001c0015t0008 | a0001c0015t0008g0139 | 1 | 196 | 0.0051 | 522 | c.655 others(541): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744277 | T | TTACTAGC others(515): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0055 | 1 | 196 | 0.0051 | 522 | c.655 others(539): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744523 | C | CCCTGGTT others(515): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18747.hp1 |
a0001 | a0001c0003a0001c0034 | a0001c0003t0001a0001c0034t0004 | a0001c0003t0001g0154a0001c0034t0004g0133 | 2 | 196 | 0.0102 | 522 | c.655 others(539): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744536 | C | CACTGTCC others(515): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03834.hp1 |
a0001 | a0001c0084a0001c0086 | a0001c0084t0059a0001c0086t0004 | a0001c0084t0059g0165a0001c0086t0004g0172 | 2 | 196 | 0.0102 | 522 | c.655 others(539): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744613 | C | CCCTGGTT others(515): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0096 | a0001c0096t0072 | a0001c0096t0072g0171 | 1 | 196 | 0.0051 | 522 | c.655 others(539): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744631 | C | CCCTGGCT others(515): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0057 | 1 | 196 | 0.0051 | 522 | c.655 others(539): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744785 | T | TAGCACAG others(515): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0032 | a0001c0032t0033 | a0001c0032t0033g0039 | 1 | 196 | 0.0051 | 522 | c.655 others(539): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RTP5_chr2_241864729_241878823 | 241874867 | A | AGAAACCC others(515): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0005 | 1 | 365 | 0.0027 | 522 | c.*15 others(533): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 1045 | chr2 | TogoVar | ||||||
| RUNDC3B_chr7_87623398_87837296 | 87626748 | A | ATGTGTCA others(515): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0052 | 1 | 202 | 0.0050 | 522 | c.-20 others(533): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1649 | chr7 | TogoVar |